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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.