In the most recent episode of The Genetics Podcast, Patrick Short speaks with Dr. Sarah Marzi, Senior Lecturer at King’s College London and Group Leader at the UK Dementia Research Institute (UKDRI), about ahow genetic and environmental risk factors influence neurodegenerative disease.
Precision medicine sponsors invest heavily to identify, educate, screen, consent, genotype, and support rare patients. In many programs, once a trial ends, that infrastructure does not persist. Patient relationships become inactive, data remains fragmented across systems, and subsequent programs rebuild from the beginning.
UK Biobank and similar resources have made an extraordinary contribution to biomedical research, enabling important advances across genomics, population health, and disease understanding. Recent reports concerning data access have prompted important discussion across the research ecosystem – not about one institution alone, but about how participant trust is maintained as precision medicine becomes more data-intensive, distributed, and global.
Recruitment in precision medicine and rare disease trials remains constrained by fragmented data, low prevalence populations, and heavy reliance on site-based pathways. Even in well-designed studies, a significant proportion of eligible patients are never identified.
On the latest episode of The Genetics Podcast, Patrick Short speaks with Dr. Suzanne Schindler associate professor of neurology at Washington University in St. Louis, about how Alzheimer’s disease develops, why biomarkers like p-tau217 matter, and what new blood-based tools could mean for diagnosis, prognosis, and clinical trials.
Rare disease exposes the limits of current clinical development models. Small, fragmented populations make patient identification difficult. Heterogeneous biology complicates endpoint selection. Limited precedent creates uncertainty in regulatory pathways. At the same time, the therapies being developed in this space are among the most advanced in medicine, often reaching patients before systems are fully equipped to support them.
Rare disease drug development involves decision-making under extreme uncertainty. Teams are asked to design trials without well-established endpoints, in small and heterogeneous populations, often with limited natural history data and no prior approvals to learn from. For many programs, there is only one realistic shot to generate a clear signal. The cost of getting those early decisions wrong is high.
Liver disease remains one of the few major disease areas where outcomes have not improved in line with other fields such as cardiovascular disease and cancer. In the latest episode of The Genetics Podcast, host and Sano Co-Founder and CEO Patrick Short spoke with Dr. Tim Jobson, Medical Director of Predictive Health Intelligence and Consultant Gastroenterologist at Somerset NHS Foundation Trust, about why that is and what it will take to change it.
In rare disease and genetically stratified trials, recruitment often depends on a single critical step: confirming that a patient carries the relevant genetic variant.
Genetic testing has become a core component of patient identification and stratification in modern clinical trials, particularly in rare disease and precision medicine programs. Direct-to-patient testing models are now widely used to expand reach, reduce site burden, and accelerate eligibility assessment.