Although long COVID cases have surged in recent years, scientific insights into its underlying mechanisms are still limited. Few studies have explored the genetic factors that may influence who develops long COVID. The Sano GOLD dataset offers a valuable resource for investigating such gaps as it combines genotype and phenotype data from 1,996 individuals who have experienced long COVID. In a new study that was just published in Nature Genetics, investigators conducted a genome-wide association study (GWAS) and replication using data from 33 cohorts, including the Sano GOLD cohort, spanning 19 countries. In this blog, we cover key insights from the study.
We’re proud to share that Sano Genetics plays a key role in the newly announced Lupus Nexus Foundational Analyses, a groundbreaking initiative led by the Lupus Research Alliance (LRA) to accelerate personalized treatments for people living with lupus.
Site disengagement can be a major barrier to successful and timely trial execution. A significant contributor to disengagement is overloading sites with redundant processes and technologies that are not cross-compatible. Accordingly, careful consideration of systems and tools can enhance site adoption and subsequent engagement.
Clinical trial recruitment is notoriously difficult – and nowhere is this more acute than at the referral stage. When a participant who looks potentially eligible is referred by a patient advocacy group, HCP, or site, it is not uncommon for them to fall out of touch before enrolling. Manual handoffs, scattered systems, and limited visibility are common culprits.
In the most recent episode of the Genetics Podcast, Patrick spoke with Helen O’Neill, a molecular geneticist who is the founder of Hertility Health and an associate professor at University College London (UCL). They discuss how Helen’s experience as an identical twin sparked her interest in genetics, her firsthand account of the CRISPR baby controversy, and why stubborn perceptions and sensational headlines continue to cast a shadow over the gene editing field, despite major scientific progress.
Fostering and maintaining a high standard for site engagement are key priorities for sponsors as they can enhance the likelihood of effective and timely trial execution. However, as clinical trials become more innovative and tech-integrated, the level of effort and perceived barriers at sites can also increase. In this blog, we cover site barriers related to technology fatigue and enablers that could help alleviate site burden.
Despite continued progress in rare disease research, only 5% of rare diseases have an FDA-approved treatment, leaving many patients with limited therapeutic options and delayed access to trials. One of the most persistent challenges in orphan drug development is identifying and reaching eligible patients, particularly given the small and geographically dispersed populations involved. Traditional site models and recruitment strategies are frequently insufficient and impractical in these settings. However, recent advances in AI, genetic screening, and flexible site activation models are creating new opportunities to improve both reach and speed.
While there have been significant strides in the development of drugs for rare diseases over the past few decades, only 5% of rare diseases have FDA-approved treatments. This scarcity of orphan drugs – defined as medications that treat rare diseases that affect less than 200,000 individuals in the US – leaves many patients waiting years for life-saving treatments. Orphan drug development is hampered by various challenges, such as business concerns over pricing and demand, small patient populations limiting clinical trials, and complex regulatory pathways that slow down approval.
In the most recent episode of The Genetics Podcast, Patrick speaks with Dr. Madhuri Hegde, SVP and Chief Scientific Officer at Revvity. Madhuri’s work has helped shape how genetic technologies, from next-gen sequencing to mass spectrometry, are applied in clinical practice around the world. Their conversation covers the evolution of newborn screening, the promise of whole genome sequencing at birth, and the infrastructure needed to make this work on a global scale.
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In a recent episode of The Genetics Podcast, Patrick Short sits down with Dr. Euan Ashley, Chair of Medicine at Stanford University, author of The Genome Odyssey, and co-founder of various biotech companies. Euan’s work ranges across ultra-rapid genome sequencing, generative AI for drug development, and even the molecular basis of elite athletic performance.