Clinical research blog

When it comes to rare and ultra-rare diseases, finding the right data can be one of the biggest hurdles in research and drug development. With thousands of rare conditions affecting only a small number of people, the data needed to understand these diseases is often scattered, inconsistent, or hard to access. That’s why collaboration, smart technology, and a focus on patient trust are so important. Here, we take a closer look at how better data practices, from standardization to secure sharing, can help researchers, clinicians, and patients work together to move precision medicine forward.

As clinical trials become more complex and patient populations more diverse, the traditional focus on recruitment alone is no longer enough. Building long-term patient relationships grounded in trust, education, and collaboration, is increasingly recognized as essential to trial success. Here, we explore how a patient-centric approach can improve retention, enhance data quality, and ultimately accelerate the development of new treatments.

In the latest episode of The Genetics Podcast, Patrick Short chatted with Leeland Ekstrom, CEO and co-founder of Nashville Biosciences (NashBio), a for-profit subsidiary of Vanderbilt University Medical Center. Leeland shares the story of how he went from consultant to CEO, building a company that now operates one of the most powerful integrated clinical-genomic data resources in the world. From sequencing 250,000 whole genomes to enabling global research partnerships, NashBio is helping shape the next era of drug discovery.

In the latest episode of The Genetics Podcast, host Patrick Short sat down with Sharon Terry, the CEO of Genetic Alliance, to discuss her extraordinary journey from a homeschooling mother to a leader in rare disease advocacy. Sharon has pioneered patient-led research, built innovative biobanking solutions, and played a key role in landmark policies like the Genetic Information Nondiscrimination Act (GINA). Their conversation covered everything from the challenges of running a patient-led biobank to the future of rare disease drug development and international collaboration.

Despite the huge potential of new technologies to enable precision approaches to diagnosing, managing and treating genetic hearing loss, significant barriers and challenges to implementation remain. First and foremost, the complex heterogeneity of hearing loss conditions means that getting an accurate diagnosis can be a challenging process. This in turn impacts treatment development efforts, as, despite having high efficacy, the majority of gene therapy treatments are limited to treating highly specific variants within a single gene. In this blog, we explore key barriers to genetic hearing loss treatment.

Hearing loss affects over 1.5 billion people worldwide, with nearly half of all cases linked to genetic factors. Despite this, diagnosis and treatment options have remained limited, especially in low- and middle-income countries. However, advances in precision medicine and gene therapy are changing this by offering the potential for earlier diagnosis, targeted interventions, and even hearing restoration.

In the latest episode of The Genetics Podcast, Patrick spoke with Dr. John Lepore, physician-scientist and CEO of ProFound Therapeutics. ProFound Therapeutics, a company incubated at Flagship Pioneering, is leading an entirely new approach to drug discovery by exploring the "expanded human proteome." With a background spanning nearly two decades at GSK, where he ultimately led R&D as Senior Vice President, Dr. Lepore brings deep experience in translating scientific discoveries into impactful therapeutics.

For decades, treatment for congenital and genetic hearing loss has largely relied on devices such as hearing aids and cochlear implants. While these technologies have helped millions, they don’t address the underlying genetic causes of hearing loss. Now, thanks to breakthroughs in gene therapy, pharmacogenomics, and AI, a new wave of personalized hearing care is emerging—one that has the potential to restore hearing, prevent loss before it occurs, and improve diagnostic accuracy like never before.

In the latest episode of The Genetics Podcast, Patrick spoke with Dr. Raghib Ali, CEO and CMO of Our Future Health (OFH), a UK initiative aimed at recruiting 5 million participants for large-scale genetic and health data research. This ambitious program, launched in partnership with the NHS, seeks to improve early disease detection and prevention by integrating genetic, lifestyle, and environmental data. You can find out more about Our Future Health here.

Diagnosing genetic hearing loss hasn’t always been straightforward. With so many different causes and overlapping symptoms, traditional methods have often struggled to provide clear answers—especially when genetic sequencing was expensive and less accessible. But as technology advances, genetic testing is making diagnosis faster, more accurate, and more affordable, opening the door to earlier interventions and better treatment options.

In the most recent episode of The Genetics Podcast, Patrick Short sits down with Dr. Anthony Bleyer, Professor of Medicine at Wake Forest University, and Stan Kmoch, head of the National Infrastructure for Medical Genomics in the Czech Republic. This conversation is especially personal for Patrick, as both guests played a crucial role in identifying the genetic cause of kidney disease in his own family. They discuss their work in inherited kidney diseases, the challenges of genetic diagnosis, and the future of treatment, including the exciting potential of xenotransplantation.

In a recent episode of The Genetics Podcast, Patrick sat down with Michelle Werner, CEO of Alltrna and CEO Partner at Flagship Pioneering. If you’ve been following the podcast, you might remember Michelle from Episode 139, where she introduced the potential of tRNA-based therapies for rare genetic diseases. A lot has happened since then. Now, with exciting preclinical data in hand, Michelle shared Alltrna’s progress, the challenges of pioneering a new therapeutic modality, and how basket trial design could change the way we approach rare disease treatment.

In last week’s episode of The Genetics Podcast, Patrick spoke with Jocelynn Pearl, Director of Cancer Cell Therapy at the TAM Center. With a career spanning genomics, biotech, and decentralized science, Jocelynn has a unique perspective on the intersection of technology, research, and patient care. From her early work in systems biology to her current role in cancer immunotherapy, she shares her thoughts on how research is evolving and where it’s headed next.

Effectively balancing the essential role of ethical and legal regulations with the challenges of patient finding and enrollment within a complex and competitive landscape requires a proactive approach. In this blog, we'll outline key approaches to achieving balance:

Growing numbers of rare disease clinical trials mean it’s never been more important to ensure that patient recruitment campaigns are identifying the right patients in support of the future of treatment development. However, conversion and compliance can feel increasingly in conflict when stringent regulations present barriers to participation.

In last week’s episode of The Genetics Podcast, Patrick Short spoke with Dr. Eric Adler, Professor of Medicine at UC San Diego and Chief Medical Officer at Lexeo Therapeutics. Dr. Adler’s work bridges the gap between cutting-edge gene therapy research and patient-centered cardiology, particularly for those with genetic heart diseases like Danon disease.

In last week’s episode of The Genetics Podcast, Patrick sat down with Dr. Versha Pleasant, Clinical Assistant Professor at the University of Michigan and Director of the Cancer Genetics and Breast Health Clinic at the Von Voigtlander Women’s Hospital. Versha’s work focuses on addressing racial health disparities, particularly in breast cancer outcomes for Black women, and expanding access to genetic testing and counseling.

Patient recruitment efforts are often designed with the best of intentions, incorporating processes that fulfill every regulatory requirement. However, without effective conversion, the time, money, and effort invested in building a recruitment strategy can fall short. Although recruitment workflows may look ideal from a research perspective, lacking a strong patient experience in the design process can lead to missed opportunities in onboarding motivated patients.

On October 18th, 2024 20/20 Onsite, Sano Genetics, and Clinical Enrollment announced the launch of a new partnership to offer a comprehensive solution for identifying and screening potential participants for Inherited Retinal Disease (IRD) clinical trials. (Read more here.)

In a recent episode of The Genetics Podcast, Patrick Short is joined by Dr. Jonathon Hill, Associate Professor at Brigham Young University and Co-Founder and VP of Science and Technology at Wasatch Biolabs. Together, they explore how long-read sequencing and epigenetic biomarkers are changing the game in diagnostics and how Jonathon is helping to build a thriving biotech community in Utah.

Effective data management and innovative clinical trial designs are pivotal in advancing precision medicine, particularly for biotech companies operating with budget constraints. By implementing robust data management systems, maximizing data reuse and sharing, and adopting cost-effective clinical trial methodologies, biotechs can enhance research efficiency, reduce operational costs, and accelerate the development of personalized therapies.

We were excited to welcome Angela Bradshaw, Director of Research at Alzheimer Europe, to The Genetics Podcast this week. Angela shared her journey from academic research to collaborating on initiatives that tackle Alzheimer’s disease and dementia across Europe. With a career spanning oncology and gene therapy, and a personal connection to rare diseases and dementia, Angela offered a unique perspective on the challenges and opportunities in dementia research, diagnostics, and care.

Today’s biotech market has never been more competitive, so the ability to innovate quickly and efficiently is a critical success factor. To achieve this, some organizations have turned to agile methodologies, open-source solutions, and advanced analytics powered by artificial intelligence (AI). By strategically integrating these approaches, biotech companies can enhance research productivity, control expenditures, and ultimately bring new precision medicine therapies to market more rapidly.

Metabolic-associated steatotic hepatitis (MASH) is primarily managed through lifestyle modifications, such as adopting a restricted diet high in antiinflammatory ingredients like fruits, vegetables and whole grains, planned exercise routines and cutting out alcohol. However, precision medicine approaches are also showing promise for not only managing the condition, but improving the diagnostic process, enabling early detection and preventing disease progression. Below, we explore the data-driven insights precision medicine is starting to enable in MASH.

In the latest episode of The Genetics Podcast, host Patrick Short is joined by Dr. Hilary Martin, Group Leader in Human Genetics at the Wellcome Sanger Institute, to discuss her research in neurodevelopmental disorders, consanguinity, and genetic complexity. With a career spanning studies in population genomics and developmental disorders, Hilary offers a unique perspective on the interplay between rare and common genetic variants, as well as the ethical and scientific considerations surrounding her work.

Recently on The Genetics Podcast, Patrick sat down with Dr. Erik Ingelsson, Chief Scientific Officer at Wave Life Sciences, to explore some of the most exciting developments in RNA medicine, target discovery, and biotech. With a career spanning academic research, big pharma, and now biotech, Erik shared his unique perspective on advancing genetic discoveries into real treatments for patients.

Precision medicine approaches to cardiometabolic conditions are still in their infancy but stand poised to transform treatment approaches and are increasingly recognized as key to tackling the global epidemic of CV and metabolic disease.

Cardiovascular disease remains a leading global health concern, claiming millions of lives each year and disproportionately affecting communities worldwide. Factor in conditions like diabetes, hypertension, and fatty liver disease, and you start to see how deeply cardiometabolic issues are woven into our healthcare systems—and our daily lives. Yet there’s a new wave of hope: precision medicine. By tailoring diagnosis, prevention, and treatment to each individual’s genetic profile, environment, and lifestyle, we’re redefining what’s possible in patient care.

In the latest episode of The Genetics Podcast, host and Sano Genetics CEO Patrick Short welcomes Dr. Eric Green, CEO and Founder of Trace Neuroscience. Eric has a wide range of experience in genomics and precision medicine, having co-founded Maze Therapeutics and previously worked as a cardiologist and academic researcher. Together, they explore the evolution of genomic medicine, drug development, and building biotechs.

Numbers of gene and cell therapy trials are expanding rapidly. Here, we examine the market forces and regulatory pathways allowing this field to grow.

There are strong indications that patient acceptance of cell and gene therapies increases significantly following the provision of clear, easy-to-understand information. Here, we outline some opportunities to create more patient-centric research in this area.

What are gene and cell therapies, and why are they key for rare disease innovation? In this blog, we explore these questions and more.

Gene and cell therapies are providing new treatment for those with rare diseases. These therapies offer hope for long-term solutions—and even potential cures—for millions of people worldwide. However, for these treatments to truly make a difference, they must align with patient values, perspectives, and access needs.

In one of our recent webinars, Charlotte Guzzo, COO of Sano Genetics, led a discussion on the challenges and opportunities in rare disease research and drug development. The conversation featured Harriet Holme, chair and founder of PCD Research, whose professional and personal experiences shed light on the current difficulties of rare disease treatments and potential solutions. Read on for a quick recap of the webinar:

In a recent episode of The Genetics Podcast, Patrick Short hosted Dr. Nessan Bermingham, a scientist turned biotech entrepreneur and operating partner at Khosla Ventures. Dr. Bermingham has co-founded over six biotech companies, including Intellia Therapeutics and Korro Bio, and played an important role in advancing CRISPR-based genome editing and RNA editing technologies. Their conversation dove into the challenges and opportunities in biotech, from founding companies to navigating regulatory hurdles and leveraging cutting-edge science.

There are a number of innovative tools and technologies which are enabling precision patient finding. From AI to e-consent, here we explore how they are changing the face of the clinical trial landscape.

In the latest episode of The Genetics Podcast, Patrick Short was joined by Dr. Luis Diaz, head of the Division of Solid Tumor Oncology at Memorial Sloan Kettering Cancer Center. Known for his contributions to precision oncology, Dr. Diaz has played an important role in the development of targeted therapies and immunotherapies that are reshaping cancer care. The discussion spans his landmark studies, the evolution of liquid biopsies, and the potential for precision medicine to expand into other fields. Here's a quick recap of the conversation:

On a recent episode of The Genetics Podcast, Patrick Short speaks with Dr. Susan Liebman, a professor emerita and researcher, about her personal and professional journey in genetics. Dr. Liebman shares her deeply moving story of uncovering the genetic underpinnings of her family’s health tragedy—a sudden, fatal cardiac event that claimed the life of her niece—and how it inspired her to write her memoir, The Dressmaker’s Mirror. The conversation goes into detail on the role of genetics in health, the importance of early screening, and the human side of science.

Precision patient finding has the potential to radically reduce the cost of trials and create a more centralized approach which serves to benefit a multitude of stakeholders, from biotechs to HCPs and patients.

Clinical trials are essential for bringing new treatments to patients, but they’re not without challenges. Recruiting the right participants, staying on budget, and avoiding delays are some of the biggest hurdles. Unfortunately, traditional methods of finding and enrolling patients often fall short—costing time, money, and sometimes even the success of the trial.

That’s where precision patient finding comes in. By using tools like genomic profiling and AI, this approach is making trials faster, more efficient, and ultimately more patient-friendly.

Precision patient finding is an evolving field that is growing in line with the demands of precision medicine and rare disease research. Unlike traditional patient recruitment methods, it harnesses technologies such as data analysis and advanced analytics, and utilizes comprehensive patient data (including genomic profiles) to rapidly identify groups of patients who have an increased likelihood of study eligibility and enrollment. Here we’ll explore some of the key elements of precision patient finding and how they interlink.

In the latest episode of The Genetics Podcast, Patrick speaks with Dr. Jim Wilson, Professor of Human Genetics at the University of Edinburgh, about his work studying isolated populations and their unique genetic makeup. As the lead of the Viking Genes project, Jim's research explores the genetic history of Scottish islanders. They have already found several genetic variants of interest, including a BRCA1 mutation present in 1 in 20 individuals on one island, and a cardiomyopathy variant 4,700 times more common in Shetland. Discoveries like these have profound implications for population health and preventive medicine. Read on for a quick summary of the episode:

Last week on The Genetics Podcast, Patrick Short sat down with Michelle Teng, CEO and co-founder of Etcembly, to explore her work at the intersection of immunotherapy and machine learning. The discussion ranged from breakthroughs in cancer treatment to Michelle’s deeply personal motivation for advancing rare disease therapies. In case you missed it, here's a quick recap of the episode:

Precision medicine is transforming neurology by enabling more accurate diagnoses and tailored treatments. Here, we explore key components driving this progress, including biomarkers, advances in genomic sequencing, and other critical areas of research.

In a recent episode of The Genetics Podcast, host Patrick Short sits down with Eric Fauman, Executive Director and Head of Computational Biology in Pfizer's Internal Medicine Research Unit. With over 26 years at Pfizer and a background in protein crystallography and genetics, Eric's work combines computational biology and genetics to drive drug discovery, particularly through the development of tools and datasets that bring genetic insights into the drug development process.

Millions of people worldwide are affected by neurological disorders like ALS, Alzheimer’s, and Parkinson’s. These conditions bring unique challenges for patients and healthcare providers, but precision medicine is helping change how we approach them. By focusing on the genetic and molecular causes of these diseases, precision neurology is opening the door to more effective, personalized care.

In the most recent episode of The Genetics Podcast, host Patrick Short speaks with Noam Baumatz, co-founder and CEO of Noga Therapeutics. Noam shares his deeply personal journey into gene therapy and the mission behind Noga Therapeutics, a company focused on developing gene therapies for rare genetic disorders. The conversation explores Noam’s work, the powerful motivation behind it, and how it supports families through rare diseases.

Today, the Lupus Research Alliance (LRA) launched the Data Repository, Exchange, and Analytics Platform (DREAM)—a pioneering knowledge-sharing platform dedicated to advancing lupus research. DREAM offers two interfaces: one designed for secure data-sharing and collaboration among researchers, and another focused on research engagement for individuals living with lupus.

In a recent webinar, former Reata Pharmaceuticals CEO Warren Huff shared his journey leading the company from its founding in 2002 to its landmark acquisition by Biogen in 2023. Warren offered an in-depth look into Reata’s development of Skyclarys, the first FDA-approved treatment for Friedrich’s ataxia, a rare neurodegenerative disease that dramatically affects patients’ quality and length of life. Below is a quick summary of the key bits of info from the webinar.

Inherited retinal disorders (IRDs) are a diverse group of genetic eye conditions that impact millions worldwide, affecting light-sensitive cells in the retina and leading to vision impairment. Our latest report, "Inherited retinal Disorders: A primer," explores these conditions, their prevalence, the genetics behind them, and current treatment options.

In the latest episode of The Genetics Podcast, Patrick welcomes back Dr. Veera Rajagopal, a drug discovery scientist at Regeneron, for his quarterly discussion about the latest breakthroughs in genetic research. Together, they take a close look at some of the most exciting papers from the past few months, focusing on evolutionary genetics, structural variants, and new research into disease mechanisms.

Inherited retinal diseases (IRDs) are a leading cause of genetic vision loss, yet they remain difficult to identify and diagnose. Genetic testing plays a pivotal role in identifying the underlying causes, opening the door to timely treatment and improved patient outcomes. Here, we explore key barriers to diagnosing IRDs and the importance of early genetic screening in managing these rare conditions.

LONDON – 22 October 2024: Sano Genetics, the UK-based precision medicine company accelerating precision medicine clinical trials, has been named as one of Bloomberg’s Startups to Watch 2024. This latest recognition highlights the business’s significant growth and impact improving access to clinical trials and precision medicine. 

Over 350 hereditary eye conditions are currently known, collectively affecting around one in every 1,000 people globally. These genetic disorders can influence various parts of the eye, such as the cornea, lens, retina, and optic nerve. Though they differ in their symptoms and severity, they all face a shared challenge: the critical need for early, precise diagnosis and tailored treatments.

In the latest episode of The Genetics Podcast, host Patrick Short interviews Mark Taylor, Head of Strategic Partnerships at the National Institute for Health and Care Research (NIHR) in the UK. During their conversation, Mark offers insights from his dual perspective as a leader in health research and as someone living with multiple sclerosis (MS). They discuss advancements in healthcare, the barriers to introducing new technologies into the National Health Service (NHS), and how engaging with underrepresented communities will shape the future of medical research.

Genetic eye diseases present significant challenges for patients and healthcare providers alike. Conditions like retinitis pigmentosa, Stargardt disease, and Leber Congenital Amaurosis (LCA) can lead to progressive vision loss, but with ongoing advancements in genetic research, there is growing hope for earlier diagnosis and more targeted therapies.

A new partnership announced today will offer seamless, end-to-end solutions that will drive progress in both patient care and research outcomes in inherited retinal diseases (IRD). 

Chronic Kidney Disease (CKD) is a major health concern that impacts millions of people worldwide. While there are environmental and lifestyle factors that increase a person's risk of developing the condition, like smoking or obesity, there are also several genes like APOL1, PKD1, and PKD2, that have been shown to significantly influence CKD risk and progression. Understanding these genetic risk factors opens the door for precision medicine, offering faster diagnoses and more effective treatments for CKD patients.

In the latest episode of the Genetics Podcast, host Patrick Short spoke with Paul Wille, Director of Product Development at Abeona Therapeutics, about adeno-associated virus (AAV) in gene therapy. The conversation covered the advantages of AAV as a gene delivery vehicle, the challenges slowing down its uptake, and its potential uses, particularly in eye conditions. Here’s a breakdown of the key points from their discussion:

In a recent webinar hosted by Lindsey Wahlstrom-Edwards, Partnerships Lead at Sano Genetics, expert speakers explored the complexities of genetic testing and its ethical considerations, particularly in relation to patient care, public health programs, and data privacy. What follows is a recap on “Precision medicine ethics: Navigating genetic screening with care.”

On last week's episode of The Genetics Podcast, host Patrick Short was joined by Dr. Mike Snyder, Director of the Center for Genomics and Personalized Medicine at Stanford University. Known for his work in multiomics and personalized health monitoring, Dr. Snyder shares his career journey and discusses his unique approach of using himself as the first participant in his own studies. Their conversation covers everything from the future of healthcare to the potential of wearables and multiomics data in predicting illness before symptoms show.

Precision medicine is paving the way for better healthcare by providing hope for more personalized and effective treatments for patients. But how is this approach evolving around the world? Our latest report, Mapping the precision medicine landscape: Regional insights and future horizons, takes a deep dive into how precision medicine is shaping healthcare systems across North America, Asia Pacific, Europe, Africa, and Latin America.

Precision medicine is reshaping healthcare by moving away from a one-size-fits-all approach to more personalized care. By understanding each patient's genetic makeup, environment, and lifestyle, healthcare professionals can develop targeted treatment and prevention strategies. In this blog, we’ll explore how this approach is making treatments more effective, identifying at-risk individuals, and potentially reducing healthcare costs while addressing key challenges along the way.

In the latest episode of The Genetics Podcast, host Patrick Short welcomes Dr. Lon Cardon, CEO of the Jackson Laboratory, to discuss his career journey, the rise of genome-wide association studies (GWAS), the shift from candidate gene studies, and the future of drug discovery in both rare and common diseases. With a career spanning academia, industry, and now leading one of the most iconic genetics research institutions, Lon shares his insights into how the field of genetics has evolved and what lies ahead.

While precision medicine holds great promise for both patients and the growth of global markets, there are significant obstacles to be overcome to enable its widespread adoption in a context which ensures equality of access. In this blog, we’ll explore how mind-bending volumes of data, a lack of trained specialists, and the huge costs of drug development all pose challenges which must be addressed to ensure successful implementation of precision medicine strategies internationally.

As the global population ages, understanding the genetic, biological, social, and environmental factors influencing longevity has become a key area of research. Advances in genetics are helping researchers unravel how our genes interact with lifestyle and environmental factors to influence not only how long we live but also how healthily we age. Here, we examine genetic research areas that could shape the future of aging and longevity.

In the latest episode of The Genetics Podcast, host Patrick Short welcomes Nadav Ahituv, Director of the Institute for Human Genetics at the University of California San Francisco (UCSF). Together, they discuss the complex world of gene regulation, covering everything from non-coding DNA to advances in genetic technologies. Nadav shares his research on how gene regulatory elements influence human evolution, disease, and diversity, as well as the cutting-edge methods his lab is using to explore these elements.

Breakthrough technologies and data innovation are driving cost reductions and increasing return on investment in precision medicine, fueling accelerated international market growth. With the sector poised for rapid expansion—the market is projected to reach $50.2 billion by 2028—innovators must adopt a global mindset to tackle the challenges of managing and processing data at an unprecedented scale. Addressing the shortage of trained specialists and confronting emerging ethical challenges will also be critical to unlocking the full potential of the precision medicine market and delivering for patients.

In this episode of The Genetics Podcast, host Patrick Short sits down with Marco Quarta, Co-founder and CEO of Rubedo Life Sciences, to discuss the biology of aging and the innovative work his company is doing to address age-related diseases. They discuss cellular senescence (a biological process where cells stop dividing but remain alive), the challenges of understanding aging at the molecular level, and Rubedo’s unique approach to developing therapeutics targeting aging cells.

Longevity – length of life – is influenced by a complex interplay of genetic, environmental, and epigenetic factors. As the global population ages, understanding the determinants of longevity has become a central focus in the fields of genetics and precision medicine. We’ve recently been having some very interesting discussions around aging on The Genetics Podcast – so here, we explore the key genetic and epigenetic factors that contribute to human lifespan and highlight their potential impact on health outcomes as we age.

In this episode of The Genetics Podcast, host Patrick Short talks with Martin Borch Jensen, Co-founder and Chief Scientific Officer at Gordian Biotechnology, about his journey into the biology of aging and the innovative approaches his company is using to tackle age-related diseases. They discuss the science behind aging, intermittent fasting, and Gordian's cutting-edge tools for drug development.

Genetic screening is poised to significantly enhance public health by improving the way we detect, prevent, and manage diseases. However, successfully integrating genetic screening into public health systems requires strategic planning across several key areas. Our report, "Strategic pathways for integrating genetic screening into public health," outlines the essential steps needed, focusing on infrastructure development, policy, and international collaboration.

In the latest episode of The Genetics Podcast, host Patrick Short welcomes Dr. Tony Cox, CEO of the UK Biocentre, to discuss his 20 years of experience at the Wellcome Sanger Institute. Dr. Cox also shares his journey from joining the UK Biocentre at the onset of the COVID-19 pandemic to leading one of the UK's Lighthouse Labs, a role for which he was awarded an Officer of the Order of the British Empire (OBE).

Genetic sequencing has significantly advanced our ability to detect individuals at increased risk of developing specific conditions and to identify diseases in their earliest stages. Predictive genetic testing can reveal susceptibilities to conditions like cancer, while diagnostic testing enables the detection of diseases before symptoms arise. These tools offer the potential for more personalized and effective healthcare. However, with these advancements come important considerations around accessibility, ethics, and practical implementation. This blog will explore how genetic testing is shaping the future of early disease detection and the essential need for equitable access to these critical technologies.

In the latest episode of The Genetics Podcast, host and Sano CEO Patrick Short explores population genomics and precision medicine with Dr. Mike Gaziano. Dr. Gaziano is a Professor of Medicine at Harvard, working at VA Boston and Brigham and Women's Hospital. He is one of the two principal investigators of the Million Veterans Program (MVP), the largest health system-based mega biobank in the world.

Decreasing costs, improved technologies, and increased prevalence of chronic and infectious disease are driving an explosion in the use of genetic testing across research, clinical trials, and public health. Healthcare is on the cusp of an unprecedented opportunity to integrate sequencing as a core initiative which not only improves individual patient outcomes and population-scale research, but reduces burden on stressed health systems and opens the door to international collaboration on an unparalleled scale. 

In the latest episode of The Genetics Podcast, host and Sano Genetics CEO Patrick Short explores the evolving landscape of personalized medicine with Dr. Scott Weiss, a Professor of Medicine at Harvard Medical School and Associate Director of the Channing Division of Network Medicine (CDNM) at Brigham and Women's Hospital (BWH).

The integration of precision medicine into healthcare systems presents significant economic opportunities. By focusing on tailored treatments, precision medicine not only promises improved patient outcomes but also drives cost savings and efficiency across the healthcare sector. In this blog, we explore the economic impacts of precision medicine and the necessity of supportive policy measures to fully harness its benefits. This strategy not only fosters economic growth but also improves patient care and enhances the efficiency of the overall healthcare system.

Medical research is moving faster than ever, and while this is exciting news for patients waiting for new and better treatments, it also highlights the bottlenecks that are slowing the process down. One such bottleneck is clinical trial patient recruitment; a third of all delays for Phase III studies are caused by difficulties finding patients to take part. And while it’s estimated that recruitment costs make up 40% of all trial expenditures, 80% of studies fail to meet their enrollment deadlines. These delays are costly, too – for many sponsors, every month delayed can cost an additional $1 million. 

Despite being in the early stages, AI's integration into genomics has already created a wave of change in many aspects of healthcare.

In the latest episode of The Genetics Podcast, host and Sano Genetics CEO Patrick Short explores the world of aging research with Dr. Austin Argentieri. Dr. Argentieri is a research fellow at Harvard and the Broad Institute, working in the Analytical and Translational Genetics Unit at Massachusetts General Hospital. With a background that includes a PhD and postdoc from the Big Data Institute at the University of Oxford, Dr. Argentieri focuses on large-scale analyses to understand the genetic, biological, and environmental determinants of human aging and aging-related diseases.

While AI can be incredibly helpful in interpreting complex genomic data and predicting patient outcomes, using it within healthcare is not without challenges and raises important ethical considerations as well. Here, we'll outline some of these important issues:

At Sano, we are constantly exploring new ways to use our technology expertise to make a meaningful impact on healthcare. That’s why we’re excited about our partnership with the Lupus Research Alliance (LRA) on a profoundly important project: the Lupus Nexus initiative. This collaboration represents a significant step forward in our efforts to contribute to critical advancements in the field of lupus research.

The progress in genome sequencing has catalyzed a significant transformation in the field of digital biology. Genomics programs across the world are gaining momentum as the cost of high-throughput, next-generation sequencing has dropped dramatically over the past decade. Now, whole genome sequencing is becoming a fundamental step in clinical workflows and drug discovery, especially for critical-care patients with rare diseases and in population-scale genetics research. However, traditional methods for analyzing genomic data are facing challenges in coping with the explosion of bioinformatics data.

In the most recent episode of The Genetics Podcast, Sano CEO Dr. Patrick Short explored the latest discoveries in genetics and precision medicine with returning guest Dr. Veera Rajagopal. Dr. Veera, a scientist at Regeneron and quarterly guest on our podcast, provided insights into recent influential studies reshaping our understanding of genetic disorders and their implications for medical treatment.

Predicting how a patient will react to medication or treatment involves understanding many factors, including their genetic makeup. Each patient's genome can hold clues about how they might respond to certain drugs, their risk of adverse drug reactions, or their susceptibility to particular diseases. However, the sheer volume and complexity of genomic data make it challenging for traditional analysis methods to efficiently process and interpret this information.

In the latest episode of The Genetics Podcast, Sano CEO Patrick Short sat down with Jakob Steinfeldt, co-founder and Chief Scientific Officer at Pheiron. Jakob shared his journey from academia to entrepreneurship and the innovative work Pheiron is doing in disease prediction and drug development.

In a recent webinar, Hayley Holt, Senior Programme Manager at Sano Genetics, provided an insightful discussion on Sano's innovative approach to patient finding, starting with the development of a patient finding protocol.

AI's significance in genomics lies in its ability to uncover hidden patterns, provide diagnostic insights, and enhance our understanding of genetic information. The reason AI can be so helpful in genetics is that the complexity and sheer volume of genomic data poses significant challenges to traditional methods, which struggle to efficiently analyse and interpret this information. AI addresses this hurdle by offering computational tools capable of handling, extracting, and deciphering valuable insights from a huge amount of data.

Integrating precision medicine into clinical practice offers immense benefits for patient care but also poses significant challenges and ethical considerations that need careful navigation in the coming years. Here's a summary of the key issues:

In the latest episode of The Genetics Podcast, Sano CEO Patrick Short had a fascinating discussion with Dr. Andrea Gropman, a distinguished expert in paediatric neurology, genetics, and inborn errors of metabolism. Dr. Gropman shared her extensive experience in the field and discussed the challenges and opportunities in integrating genetics and genomics into modern medical practice.

Last week on The Genetics Podcast, Sano CEO Patrick Short sat down with Lori Orlando, Director of the Precision Medicine Program at the Center for Applied Genomics and Precision Medicine at Duke University. Lori shared her journey from mathematical modelling to integrating family history and genetic data into primary care, discussing the impact of genomics on healthcare and the future of personalised medicine.

The incorporation of genetics into contemporary clinical practice is essential for facilitating personalised treatment plans and early diagnosis, and can lead to significantly better patient outcomes. This guide provides healthcare providers with a comprehensive overview of how to effectively integrate genetic data into clinical settings. Here are some key points covered:

In terms of identifying and supporting at-risk populations, genomics has multiple potential applications in frontline healthcare. While confirmation of an underlying genetic factor can’t currently change patient outcomes, it’s hoped that collecting genomic data will enable families to quickly identify members at increased risk, and ultimately accelerate the development of potential new drug targets and personalised treatment journeys.

The advancement of precision medicine hinges on supportive policies, legislative frameworks, and collaborative efforts that foster innovation, streamline regulatory processes, and ensure equitable access to cutting-edge treatments. Here, we share notable policy initiatives and examples of collaborative efforts in the United States and the United Kingdom, highlighting their goals, implementation, and potential impacts.

In the latest episode of The Genetics Podcast, Sano CEO Patrick Short had an enlightening conversation with Ben Goldacre, a prominent figure in healthcare data and open science. Ben discussed his pivotal work at the Bennett Institute, highlighting projects that leverage open data to improve healthcare outcomes.

British toddler Opal Sandy has had her hearing restored thanks to a first-of-its-kind gene therapy. Eighteen-month-old Opal received the treatment as part of the CHORD study (sponsored by biotechnology company, Regeneron), which offers the therapy – DB-OTO – to children born with OTOF linked hearing loss. The Guardian reported last month that Opal’s parents “couldn’t really believe it,” when their daughter was able to hear for the first time after receiving the treatment.

Establishing robust policy frameworks to support precision medicine involves creating an ecosystem that fosters innovation, ensures safety and efficacy, and promotes equitable access. This includes addressing challenges and opportunities related to privacy, data protection, insurance, and genetic discrimination. Here, we outline the key strategies and components for setting up such programs, focusing on regulatory frameworks, data infrastructure, funding, ethical considerations, and collaborative ecosystems.

In the recent webinar hosted by Jess Burrows, Product Designer at Sano Genetics, and Marisa Ngbemeneh, Product Manager at Sano Genetics, we took a deep dive into the importance of patient-centric design in healthcare. The conversation highlighted how prioritising the patient experience can significantly improve clinical trials and research initiatives. 

Precision medicine is transforming healthcare by tailoring treatments to individual patients based on genetic, environmental, and lifestyle factors. Our latest whitepaper, "From policy to practise: Integrating precision medicine into healthcare systems," highlights how effective policies can make this a reality.

In the latest episode of The Genetics Podcast, Sano CEO Patrick Short had a fascinating conversation with Michelle Werner, CEO of Alltrna and CEO/Partner at Flagship Pioneering. Michelle and her team are pushing the boundaries of tRNA therapies, aiming to provide scalable treatment options for people with rare and ultra-rare diseases.

Genomics has come a long way since the first human genome was sequenced in 2003. Today, sequencing a genome is not only faster but also significantly more affordable, thanks to advancements from industry leaders like Illumina and Oxford Nanopore. This progress has opened new avenues for research and precision medicine, particularly in identifying and supporting at-risk populations.

In the latest episode of The Genetics Podcast, Sano CEO Patrick Short had the pleasure of speaking with Almut Heinken, a junior professor at the INSERM Institute of Nutrition, Genetics, Environment, and Risk Exposure at Université de Lorraine. Almut’s fascinating research sits at the intersection of the microbiome, human genetics, drug discovery, and pharmacogenomics.

In this webinar, "Alpha-1 Antitrypsin Deficiency: Engagement, screening, and retention," Sano Senior Project Manager, Hayley Holt, shares a case study on our work with an industry-leading sponsor to deliver genetically-qualified volunteers for a precision medicine clinical trial focused on Alpha-1 Antitrypsin Deficiency (AATD). The webinar explores the methodologies used and describes the success of the project.

In the latest episode of the Genetics Podcast, Sano CEO Patrick Short had the pleasure of speaking with Mavis Machirori, a senior researcher at the Ada Lovelace Institute and co-founder of Genetics Engage. 

Developing treatments for rare diseases involves unique obstacles due to the rarity and complexity of these conditions. To address these challenges, the FDA offers guidance on conducting natural history studies. These studies are essential for comprehending disease progression, identifying patient subgroups, discovering biomarkers, and refining clinical outcome assessments – all of which enhance the effectiveness and design of clinical trials.

In honour of Clinical Trials Day, we're sharing some reflections from our team at Sano about why we do what we do. Clinical Trials Day marks the anniversary of James Lind's first controlled clinical trial in 1747, a key moment in medical history. For us at Sano, it’s a chance to celebrate the work we’re passionate about and the incredible people who make it possible. These quotes reflect some of our personal journeys and the reasons why we’re dedicated to advancing precision medicine. From living with genetic conditions to striving for groundbreaking discoveries, our team’s stories show the heart and commitment behind our mission to transform healthcare.

Natural history studies are essential for advancing our understanding of diseases, especially rare conditions with limited research. These studies monitor disease progression in their natural, untreated forms, providing invaluable insights that inform the development of effective treatments and precision medicine.

This webinar is the second in a series on the complex legal environment of precision medicine, featuring Mina Frost, General Counsel for Sano Genetics. In this episode, Mina focuses on issues like market access, reimbursement, and intellectual property. Mina provides a clear breakdown of these topics, helping us understand how laws affect the delivery of innovative medical treatments.

Last week, our team had the opportunity to attend the World Orphan Drug Congress in Boston. The event was a dynamic gathering, where leaders from biopharma, regulatory agencies, and patient advocacy groups came together to discuss the challenges and advancements in treating rare diseases. 

Newborn genome sequencing represents a major shift in paediatric healthcare, offering the potential for early detection of genetic disorders and setting the stage for personalised treatment strategies from the very beginning of life.

In the informative webinar hosted by Dr. Patrick Short, Co-founder and CEO of Sano Genetics, guest Dr. Andrea Gropman explored the profound impact of genetics and genomics on modern medical practice. The discussion provided valuable insights into the journey of translating genetic discoveries from the laboratory to the bedside, particularly focusing on neurogenetics and metabolic disorders.

Last week, Sano had the privilege of travelling to Boston for the Chief Medical Officer Summit 360°, where our Co-founder and COO, Charlotte Guzzo, shared her expertise on a panel focused on practical approaches to patient engagement. This event provided a platform for rich discussions on the shifting paradigms of drug development and precision medicine. Here, we’ll share an overview of key discussions and insights from the conference, emphasising the innovative strategies highlighted during the panels.

Natural history studies are instrumental in advancing precision medicine by offering a nuanced understanding of the patient journey across various diseases, including Duchenne Muscular Dystrophy, Spinal Muscular Atrophy, and Huntington's Disease. This blog post explores the crucial role these studies play in disease modelling and the development of precisely targeted treatments within the realm of precision medicine.

This webinar, co-hosted by Sano Genetics and PrecisionLife, highlighted the complex nature of long Covid, which affects up to 30% of Covid-19 survivors and presents with more than 50 symptoms. The discussion brought to light the limitations of traditional genomic research, which has struggled to identify significant genetic risk factors, and underscored the necessity for innovative methodologies in understanding and treating this condition.

Liver disease remains one of the leading causes of morbidity and mortality worldwide, presenting complex challenges in healthcare due to its multifaceted nature and often silent progression. Advancements in genetic research have begun to illuminate the pathways through which liver diseases develop, revealing that conditions like metabolic dysfunction-associated steatohepatitis (MASH), previously known as nonalcoholic steatohepatitis (NASH), are not only influenced by lifestyle but also by genetic predispositions.

At Sano, our mission to accelerate the world’s transition to personalised medicine hinges on precise, individualised insights from vast amounts of health data. Understanding the sensitive nature of this data, we've committed to the highest standards of privacy and data protection, as detailed in our latest whitepaper, "Sano’s privacy promise." 

This webinar focused on the potential of artificial intelligence (AI) in drug development, particularly within the realms of precision medicine. Hosted by Charlotte Guzzo, COO of Sano, the session featured insights from top industry experts who discussed their personal journeys at the intersection of technology and healthcare, the challenges of integrating AI into drug development, and the cutting-edge innovations their companies are pioneering.

Natural history studies play a pivotal role in deepening our understanding of diseases by observing them in their unmodified state. These studies offer invaluable insights by serving as "natural" comparisons for assessing the impact of treatments, thus playing a crucial role during the drug development process and in comprehending how diseases evolve without medical intervention. They act as fundamental benchmarks to gauge the effectiveness of new therapies.

In this webinar, Sano’s Senior Project Manager Clare Clarke shares the approach Sano employs to achieve its mission of accelerating the world’s transition to precision medicine. She outlines the seamless integration of recruitment, biomarker testing, and engagement within research trials, and provides an overview of Sano’s technology. This is the first in a series of webinars that will showcase various aspects of Sano’s product.

In recent years, the advent of population genomic screening has emerged as a promising approach to combat prevalent diseases such as cancer and heart disease. Population genetic screening tests a large population of otherwise healthy individuals to find genomic variants that might predispose them to diseases that are clinically actionable, meaning that they can be prevented or mitigated if they are detected early. By identifying individuals at risk of preventable and treatable conditions, this screening method has the potential to significantly reduce morbidity and mortality rates.

In this webinar, “Parkinson's disease: Engagement, screening, and retention," Sano CEO and Co-Founder Patrick Short shares a case study of Sano’s work on a genetic Parkinson’s disease clinical trial. He explores the methodologies used for this cutting-edge program, and describes the success of the project.

Our latest whitepaper, "Bridging Genes and Medicine: How genetics is redefining healthcare," examines how the adoption of genetic information is changing clinical practice by requiring a more personalised approach to healthcare. It highlights the importance of this shift, both for improving patient outcomes and for the efficiency of healthcare delivery, painting a picture of a future where treatments are as unique as the patients themselves.

Over the last two decades, following the landmark achievement of sequencing the first complete human genome, a suite of powerful genetic tools has emerged. Gene panel testing, whole exome sequencing, and whole genome sequencing are now pivotal in gathering detailed genetic information. The integration of these tools into neonatal care holds the potential for helpful genetic insight from the moment of birth.

Tissue engineering and regenerative medicine (TERM), integral to the evolution of precision medicine, are making strides in regenerating or repairing damaged tissues and organs. Tissue engineering uses cells, scaffolds, and growth factors to regenerate or replace damaged or diseased tissues, while regenerative medicine combines tissue engineering with other treatments like gene therapy, immunomodulation and cell-based therapy to induce tissue regeneration within the body. When combined with precision medicine's tailored approach, TERM holds immense promise for addressing some of the biggest modern healthcare issues, such as the urgent demand for organ replacements amidst an ageing population. 

Last year, Sano CEO Dr. Patrick Short presented a webinar called “Genetics Essentials for Clinical Research professionals.” In it, he explained the fundamentals of genetics in clinical research, explored the trends propelling genetics in drug development, and shared practical applications in drug discovery, development, and delivery. Now, we’re back with part 2, which goes beyond fundamentals and is presented by Sano COO Charlotte Guzzo.

Genomic screening is transforming prenatal and neonatal care, offering new insights and challenges in equal measure. Our latest report, "Precision from the start: Balancing progress and principles in prenatal and neonatal care," dives into these advancements and the ethical dilemmas they present.

This webinar, hosted by Sano CEO Dr. Patrick Short and featuring Dr. Wendy Chung, Dr. Holly Peay, and Kira Dineen, offered a deep dive into the latest advancements in newborn screening, showcasing how cutting-edge genetic technologies are paving the way for a new era in medical care for our youngest patients. The link to the full webinar is here; a brief summary is below for easy reference.

The global battle against COVID-19 has shifted focus from acute infections to the lingering challenge posed by long COVID, a condition where signs and symptoms persist well beyond the initial infection. While most individuals experience a mild reaction to the virus, approximately 10% develop hypoxemic pneumonia, 3% progress to critical illness, and 28% go on to experience Long COVID.

Genetic testing offers a powerful lens through which we can understand and address a wide array of medical conditions, ranging from neurocognitive disorders in children to various cancers in adults. However, the rapid evolution of genomic technologies and the increasing demand for genetic testing bring to the forefront the complexities involved in interpreting genetic results. This issue is becoming increasingly pertinent for both healthcare providers and patients.

This webinar featuring Mina Frost, General Counsel for Sano Genetics, provides an insightful overview of the legal and ethical intricacies involved in precision medicine. Mina expertly explores the complexities of patient privacy, data protection, and the regulatory landscape that govern precision medicine.

Recently, our team had the pleasure of attending the 16th Annual Patient Recruitment and Retention Summit, a hallmark event in the field of clinical research and patient advocacy. Hosted in an intimate, knowledge-sharing environment, this summit brought together experts from across the globe to share insights, strategies, and innovations aimed at enhancing patient involvement in clinical research. We were proud to sponsor a booth, which served as a hub for discussions, networking, and sharing our contributions to the field. In this blog, we’ll share the themes that rose to the top in our discussions. 

In observance of Rare Disease Day, our latest episode of the Genetics Podcast presents a fascinating conversation with John Matthews, who was recently promoted to Chief Medical Officer at ReCode Therapeutics. This special episode not only commemorates the day dedicated to raising awareness for rare diseases but also showcases the innovative strides being made in the field of genetic medicine for the diagnosis and treatment of rare diseases.

In our latest whitepaper, "Beyond the bench: The role of patient empowerment in shaping precision medicine research," we examine how patient involvement is transforming the field of genomics- and biomarker-driven research. In highlighting the shift towards patient-centric models, we emphasise the importance of including patient insights in the development of new treatments.

In today's digital age, scientists and medical professionals are harnessing the power of healthcare data to unravel the genetic foundations of various diseases. But despite the growing portfolio of precision medicines, their integration into healthcare systems is not without its hurdles. This blog explores the challenges and opportunities of integrating precision medicine into healthcare systems. 

In the ever-evolving world of healthcare and scientific research, the rapid growth of genomic data stands out as both a remarkable achievement and a formidable challenge. Our new report, "Scaling genomic data: Addressing the storage, analysis, and accessibility hurdles of large-scale genomic data," sheds light on the complexities of managing this vast ocean of information that holds the key to unlocking the future of personalised medicine.

In the age of advanced medical treatments, achieving health equity—in which every individual has the chance to attain their highest level of health regardless of background—is a fundamental yet unmet goal. Despite good intentions, healthcare systems globally face significant challenges in providing equal access and quality of care to all communities.

With Parkinson's disease affecting millions worldwide, the need for enhanced research is both critical and immediate to improve patient outcomes and quality of life. Here, we showcase a curated selection of recent advancements in Parkinson's research. 

We recently had the privilege of hosting a booth and speaking in the Precision Medicine World Conference (PMWC) 2024, an event that stands at the intersection of technology, medicine, and research. This gathering of the minds is where the future of healthcare is debated, shaped, and set into motion. Our team returned invigorated by the discussions, collaborations, and insights that PMWC fostered, reflecting a shared ambition to redefine the boundaries of personalised medicine. In this recap, we share three pivotal insights that resonated with us and will continue to shape our vision for the future of precision medicine.

In the realm of clinical genetics, the surge in digital health technology adoption has been remarkable. These innovations, ranging from chatbots assisting with patient admissions to sophisticated machine learning algorithms enhancing genomic analysis and reporting, are revolutionising the delivery of genetic services. They are not only streamlining operations but also ensuring consistent access to healthcare. The abundance of data and the advancement of precision medicine necessitate a digital approach to healthcare interactions, fostering broader access and more tailored care.

In the rapidly advancing realm of precision medicine, healthcare professionals (HCPs) are witnessing a transformative shift in their roles. This approach, which tailors treatment to the individual's genetic makeup, lifestyle, and environment, demands a new set of skills and knowledge from HCPs – including physicians, nurses, and pharmacists. They are now at the forefront of integrating complex genetic information into patient care, navigating ethical dilemmas, and maintaining an up-to-date understanding of technological innovations. This blog post explores how precision medicine is reshaping the responsibilities and expertise of HCPs, and what this means for patient care.

• Sano Genetics is the only software platform tailored to running precision medicine clinical trials, leveraging AI to manage all aspects from design to patient recruitment, to genetic and other biomarker testing and patient engagement
• Precision medicine is a fast-growing category - today more than 30% of trials are precision-driven which is predicted to reach 80% by the end of the decade
• Sano Genetics is experiencing huge demand for its product, experiencing 5x growth ARR year-on-year and now serving four of the major pharmaceutical companies 
• New funding brings the total raised by the company to $22M to help it meet demand and further automate its processes 

In the realm of healthcare, a pivotal shift is taking place: the growing collaboration between academia, biotechnology, and pharmaceutical industries in the field of precision medicine. This evolving partnership is more than a trend; it's transforming how we approach the development of new drugs and treatments.

In the ever-evolving field of rare disease research, it's crucial to remain informed about the latest progress. At Sano, our commitment is to stay ahead of these developments. We are excited to offer a curated overview of some of the most significant advancements in rare disease research from the past few months.

In the rapidly evolving world of healthcare, a profound transformation is taking place at the intersection of Artificial Intelligence (AI) and genomics. This convergence is not just a fleeting trend; it's a fundamental shift in how we approach medicine, diagnosis, and treatment. Our latest whitepaper explores this significant development, shedding light on how AI is unlocking new possibilities in genomic medicine.

Since the advent of precision medicine, there has been a noticeable shift in patient engagement and decision-making in healthcare. Patients are now more vocal and proactive, expressing a strong desire to be actively involved in their healthcare journey. This engagement reflects an increased awareness and understanding of their health needs and options, aligning with the personalised nature of precision medicine. In this blog, we examine precision medicine’s role in empowering patients to be more involved in their healthcare decisions, then explore how this shift is shaping the dynamics between healthcare providers and their patients.

In the rapidly evolving field of precision medicine, the role of patient engagement and communication is pivotal. As we venture into this new era of personalised healthcare, it's essential for pharmaceutical and biotech companies to establish trust and transparency with patients. This checklist serves as a guide to ensure companies are taking the right steps to effectively engage and communicate with patients participating in precision medicine research.

Natural history studies play a pivotal role in advancing our knowledge of diseases. These observational studies, which track the progression of diseases in their natural state without medical intervention, are particularly crucial in the realm of rare disease research. They serve as fundamental benchmarks against which the effectiveness of new treatments can be measured. In conducting these studies, extensive data is collected over an individual's lifetime, including initial diagnosis, clinical observations, and patient insights on quality of life. This rich tapestry of information provides a deep and nuanced understanding of how a disease progresses and its impact on those affected.

Last week, we attended the NASH-TAG conference in beautiful Park City, Utah. Against a winter wonderland backdrop, we dove deep into the latest research on metabolic associated steatohepatitis (MASH, also known as non-alcoholic steatohepatitis or NASH) and connected with leading experts in the field. Here, we’ll share some of our key learnings, underscoring the evolving landscape of liver disease research. 

In the ever-changing field of precision medicine, continuous evaluation of data sharing and collaboration practices is essential for biotech and pharma companies. This ongoing assessment is vital to ensure compliance with evolving regulations, protect patient privacy, and foster innovative research. Drawing from our expertise in this area, we've created a straightforward checklist to help these companies responsibly handle genetic and biomarker data and collaborate effectively with third parties.

The digitisation of medical records is catalysing the use of AI in various sectors of healthcare, including clinical trials, precision medicine, and drug discovery, thereby supporting biotech and pharmaceutical companies in their quest for more efficient and personalised medical solutions. This blog post explores the transformative role of AI in fostering collaborations within and beyond these industries, highlighting its impact on drug discovery and the development of personalised medicines, while also addressing the challenges and ethical considerations involved.

As the new year unfolds, it's a time for reflection on some of the most inspirational stories in human genetics last year, and anticipation of what's to come in this area in 2024.

In the two decades since the first human genome sequencing, technological progress has unlocked an enormous collection of genetic data. This invaluable resource has deepened our understanding of DNA's role in diseases and the diverse genetic makeup among individuals. However, a significant caveat exists: a disproportionate amount of this data stems from individuals of European descent. As of 2021, over 86% of genomic data hails from this group, with East Asians contributing around 6%, Africans 1%, and all other demographics less than 1%. This skew in data collection limits the potential benefits of genomic research for underrepresented populations. And one issue at the heart of it is a lack of genomic literacy. 

In today's increasingly interconnected global landscape, the ease of movement and migration has led to a significant rise in diversity within numerous countries. This diversity is characterised by distinct cultural backgrounds that considerably influence individuals' reactions to various healthcare services, including the progressively important field of genomic medicine. In this context, cultural competency becomes an essential skill for researchers and healthcare providers. It plays a pivotal role in bridging cultural differences, ensuring that high-quality care is delivered uniformly, transcending barriers of race, gender, or beliefs.

Health equity, defined as everyone having the opportunity to be as healthy as possible, has long been a primary goal of public health. Still, across the world, people don't have the same opportunities to see doctors, take part in research, or access medications and genetic testing. This disparity of care can affect rates of disease and disability – and most importantly, hinder quality and length of life. 

Our new whitepaper "Inclusive genomics: A path to equitable precision medicine" offers a close look at the intersection of genomic research and diversity. It's an exploration of how embracing the full spectrum of human diversity is not just beneficial but essential for the advancement of precision medicine.

The 34th International Symposium on ALS/MND represented a pivotal moment in the ongoing fight against Amyotrophic Lateral Sclerosis (ALS). This year's event was especially significant, commemorating the 30th anniversary of the discovery of SOD1, the first monogenic cause of ALS, and showcasing the substantial progress made in understanding the genetic components of this complex disease.

As we step into a new era of medical innovation, it's crucial to shine a light on diseases that have long remained in the shadows. Amyotrophic lateral sclerosis (ALS), a progressive neurodegenerative disease also known as motor neuron disease (MND), is one such condition that has challenged medical experts for decades. Today, we’re thrilled to share a beacon of hope in this challenging landscape: Sano’s launch of “Light the Way.”

Families affected by ALS urged to join free program to uncover their genetic risk, contribute to research, and access new therapies

• Sano Genetics launches ‘Light The Way’, offering peer support, DNA testing, genetic counseling and education to those diagnosed with or experiencing symptoms of ALS, and those at risk of genetic ALS due to their family history.
• Around one in five ALS cases are now thought to be genetic; 40+ genes have been linked to the disease thanks to new discoveries funded in part by the 2014 ALS ice bucket challenge.*
• Knowing their genetic risk could offer relief to many, while those who test positive may be able to access newly approved therapies, clinical trials and observational studies like Beacon, which charts the psychological impact of ALS genetic testing.

In the ever-evolving landscape of healthcare, precision medicine trials stand out as a beacon of personalised treatment, tailored to the unique genetic and environmental makeup of each individual. But the backbone of these trials isn't just cutting-edge technology or groundbreaking research; it's the patients. Engaging them effectively is both an art and a science. Here, we explore best practices for patient engagement in this dynamic field.

As the interest in precision medicine grows, so does the interest in its economic implications. Economic evaluations are used to determine the value of treatments, helping policymakers allocate resources wisely. However, these evaluations can be difficult for precision medicine. In this blog post, we delve into the economics of precision medicine, exploring its cost-effectiveness and the broader economic benefits of tailored treatments.

In our latest report, we explore the complexities of Amyotrophic Lateral Sclerosis (ALS), offering a comprehensive overview of the disease. From genetic components to the latest FDA-approved treatments, we cover the entire spectrum of ALS research and care.

Metabolic dysfunction-associated steatohepatitis (MASH), previously known as nonalcoholic steatohepatitis (NASH), is a complex liver disease characterized by fat accumulation, inflammation, and fibrosis. With its global prevalence rising alongside obesity and type 2 diabetes rates, the medical community is urgently seeking innovative prediction, diagnosis, and treatment strategies.

This webinar, hosted by Sano CEO Dr. Patrick Short and featuring David Ochoa, Platform Coordinator at Open Targets, explores the significance of human genetics in pinpointing drug targets, the variety of data sets employed, target safety, and methods of intervention. It also touches on the changing nature of drug modalities and prospective avenues for future research.

The relationship between DNA and health is being understood better every day. We now know that our genes affect our risk of disease, symptoms, and even how we react to medications. But with genetic testing becoming a more prominent part of healthcare, genetic counsellors play a vital role in supporting people through the process and helping them understand the results of testing and what it means for them as patients. In this blog, we'll discuss the importance of genetic counsellors and how they bridge the gap between scientific advancement and patient care.

The 21st century heralds a paradigm shift in healthcare and medicine, driven predominantly by the breakthroughs in genetic testing. This blog post explores how genetic testing is redefining the fields of biotechnology and pharmaceuticals, marking a new era of precision medicine. From decoding our DNA to ushering in targeted therapies, genetic testing stands as a cornerstone of modern medical innovation.

Digital twins are virtual models designed to accurately reflect a physical object or system. The concept comes from engineering and has been applied to complex systems such as airplanes, manufacturing, and even cities. While the use of digital twins in healthcare is still very new, it is already showing promise for more personalised treatments and creating a better understanding of patient health.

While lifestyle choices and environment can impact risk, genes are often what most affect how likely a person is to develop a disease. People commonly have different versions of a gene throughout a population, and some of these versions are associated with an increase in disease risk. Polygenic risk scores consider these gene variations and can provide a measurement of a person's risk for a specific disease.

Clinical trials are the cornerstone of medical advancements, allowing researchers to develop new treatments, therapies, and medications. However, a critical challenge in conducting successful clinical trials is patient recruitment. Efficient patient recruitment ensures that trials progress smoothly, providing results that benefit both the medical community and patients. To overcome this challenge, clinical trial patient recruitment companies and platforms play a vital role. In this blog, we’ll examine the world of clinical trial patient recruitment, exploring the role of various vendors and platforms.

Clustered regularly interspaced short palindromic repeat (CRISPR) and CRISPR-associated protein (Cas) systems are programmable genome editing tools that can mediate site-specific DNA modifications. Although gene-editing technologies, including CRISPR, enable highly specific treatments tailored to individuals, their clinical success depends on overcoming issues like efficiency, gene correction specificity, and precise cell targeting. Here, we'll discuss the potential gene-editing technologies like CRISPR have for personalised therapies, as well as the challenges and regulatory landscape that affect its clinical uptake.

The development of MASH, the advanced stage of nonalcoholic fatty liver disease, is a complex interplay of genetic and environmental factors. Genes like PNPLA3, TM6SF2, GCKR, MBOAT7, and HSD17B13 play pivotal roles in MASH susceptibility. Lifestyle factors, particularly diet and exercise, amplify the genetic influence on MASH risk.

Pharmacogenomics, also known as pharmacogenetics, is a field of research dedicated to investigating how an individual's genetic makeup influences their response to medications.

This webinar, hosted by Sano CEO Dr. Patrick Short and featuring Dr. Dimitar Tonev, an expert in liver disease and hepatology, sheds light on the latest developments in liver disease – particularly metabolic dysfunction-associated steatohepatitis (MASH) – including significant changes and predictions for the future.

Keeping participants engaged in clinical research can be difficult. Here, we let the statistics tell the story:

Genetic data is at the heart of precision medicine. Understanding the influence of genetics on health has helped us to recognise risk factors for disease, predict how patients might respond to treatments, and develop targeted treatments. But how does this knowledge connect to phenotypic data – the expression of the interaction between genes and the environment?

DPharm 2023 has come to a close, and as we reflect on the sessions and insights shared, two themes clearly stood out this year: The participant experience and incentives for participants. In this blog, we’ll dive deeper into these central areas of discussion.

As COVID-19 continues to affect us all, it has become evident that our fight against the virus is not just about developing vaccines and therapeutics. Equally crucial is our ability to track the virus’s mutations and adaptations. Enter genomic sequencing – a technology that has taken centre stage in our ongoing battle against the pandemic. Here, we explore how genomic sequencing has been instrumental in tracking SARS-CoV-2 variants and its implications for future pandemics.

In this blog, we're exploring whether ALS can be caught early, including the tests that may be used in order to diagnose ALS, and if there are any measures that can be put in place to stop it early. 

In the constantly evolving pharmaceutical and biotech industries, the search for new drug targets is an ongoing effort. Clinical operations professionals play a pivotal role in this endeavour, and one of the most promising tools at their disposal is genetic data. In this blog, we will explore how genetic data is harnessed to identify drug targets, and what this means for the drug development process.

Long COVID, affecting nearly 28% of COVID-19 survivors, is a multifaceted condition that extends well beyond its initial impact. Typical include fatigue, concentration difficulties, and shortness of breath – but researchers have identified more than 200 symptoms associated with long COVID. It remains a global health puzzle, but research is paving the way for a deeper understanding and improved treatments.

In the ever-evolving landscape of clinical trial recruitment, an omnichannel approach is becoming increasingly crucial to ensure a diverse and engaged participant pool. This approach involves the integration of various outreach methods to reach potential participants through traditional methods, digital channels, patient advocacy groups, patient databases, and more. Each of these approaches has its pros and cons, offering unique opportunities and challenges to recruit participants effectively. Understanding these benefits and disadvantages can help researchers put together a perfectly blended omnichannel approach.

When a person undergoes genetic testing, they often expect to find definitive answers about their genes. However, around 20% of genetic tests identify variants of uncertain significance (VUS). These enigmatic genetic mutations often leave researchers and patients with more questions than answers. Unlike harmful mutations that may cause cancers or benign ones that aren't linked to illness, researchers lack sufficient information about VUS to determine their association with any conditions. Here, we'll outline what VUS actually are, their significance in clinical trials, and some effective strategies to manage them.

Back in 2015, a study published in Nature suggested that by harnessing genetic data to support the selection of candidate drugs, researchers could double their success rates. Considering that only around 10% of clinical programs ultimately result in an approved drug, using genetic data can be game-changing for drug development. Patient registries serve as repositories of genetic information that can be used during precision medicine trials to help us better understand medical conditions and why people react to treatments differently. In this blog, we’ll define genetic patient registries and discuss how they support research and what to keep in mind if you're considering making use of one.

Clinical trials drive medical progress, but their success relies on effective patient recruitment. And recruiting patients for clinical trials is no small task. Consider these statistics: 37% of trial sites struggle with under-enrollment, 11% fail to enrol any patients, and 90% of trials need their timelines doubled to meet goals. Recruiting one patient costs an average of $6,533, with replacing a drop-out patient soaring to $19,533. Getting patient recruitment right is paramount.

In the ever-evolving world of healthcare and pharmaceuticals, researchers are constantly seeking ways to make drug development more efficient and effective. Sano’s new report, “Why are drug targets with genetic evidence twice as likely to succeed in trials?” sheds light on the use of genetic evidence to significantly increase the success rates of drugs in clinical trials, offering a glimpse into the future of personalised medicine.

Genetics plays a principal role in health and disease, and continues to become increasingly important for drug development. With genetic data, the focus is shifting from traditional trial-and-error approaches towards precision medicine. This data helps us to understand the genetic underpinnings of diseases, enabling the identification of potential drug targets and more personalised treatment strategies. In this blog, we explore the major sources of genetic data that drive advancements in drug discovery, ranging from genomic databases to cutting-edge sequencing technologies.

In the world of healthcare, genetics is ushering in a new era of personalised insights that are transforming how we approach healthcare. Our latest report, “The Genetic testing landscape: A look at the modern approach and the value of sponsored programs,” offers a valuable exploration of the evolving genetic testing landscape. 

In the fast-paced world of medical research, patient advocacy groups have emerged as powerful drivers of change. One critical ingredient in their recipe for success is patient registries. These tools offer a direct relationship between patients and researchers, propelling medical advancements and accelerating the search for better treatments. Our newly released whitepaper, titled "Connecting communities: Engaging patients in registries for long-term impact," shares strategies and insights for patient advocacy groups that want to create impactful patient registries. 

The rapidly evolving landscape of precision medicine has opened new avenues for personalised treatments, transforming how we approach patient care. Genetic information is now pivotal in tailoring medical interventions to individual needs. However, with this innovation comes a complex web of ethical and regulatory considerations that must be carefully navigated to ensure patient safety, data privacy, and ethical conduct. Here are the key insights and lessons from a recent Sano webinar in which Sarah Howard, our Head of Quality and Regulatory, shed light on the ethical and regulatory landscapes surrounding precision medicine.

Are you curious about the blueprint of life that shapes everything around us? Genetics podcasts offer an easy and engaging way to explore the fascinating world of DNA, genes, and heredity. Whether you're a science enthusiast or just intrigued by how our genes work, tuning into these podcasts can be both educational and entertaining. Here are six great options:

In the complex world of medical research, collaboration is key to driving innovation and progress. Sano exists to accelerate the transition to precision medicine, and in the spirit of collaboration, we’ve honed our offerings to ensure value for clients based on their specific needs. Below you’ll find seven practical ways sponsors and other researchers have worked with us to achieve their goals. 

The healthcare sector is constantly changing, with cutting-edge medical equipment, life-changing drugs, and innovative procedures evolving to provide care to patients around the globe. Genetic testing has become an integral tool within the sector over the past few years, offering new ways to understand and diagnose conditions, while providing a gateway to more personalised treatment options.

Genetics is reshaping the landscape of clinical research, and our latest whitepaper, "Guide: Genetics Essentials for Clinical Research Professionals," offers a concise yet comprehensive overview of this rapidly evolving field. This guide explores genetics' crucial role in drug development, discovery, and patient care.

Precision medicine marks a shift from the one-size-fits-all approach to healthcare to tailored treatments and interventions that cater to an individual's unique genetic makeup, lifestyle, and environment. While precision medicine has the potential to improve patient outcomes and speed up clinical trials, it relies on the participation of diverse and representative populations. Diversity ensures that medical insights are applicable across a wide range of individuals, preventing biassed results that may favour specific ethnic or demographic groups.