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. I...
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On the latest episode of The Genetics Podcast, Patrick welcomed Dr. Andrea Ganna, an Associate Professor at the Institute for Molecular Medicine Finland (FIMM),...
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At Seqera Sessions London 2026, Dr. Katie Barnes, Head of Clinical Genetics at Sano Genetics, outlined a practical challenge facing the field: how to move from ...
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Recruitment in genetically stratified clinical trials is often constrained by a simple problem: large screening volumes do not translate into eligible patients....
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Genome sequencing is now a core part of rare disease diagnostics in several healthcare systems. However, the path from sequencing technology to clinical impact ...
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Genetic screening has advanced rapidly over the past two decades. Sequencing is faster and far less expensive, and the ability to interpret genetic variants con...
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Rare disease trials operate under structural constraints that make site selection more important than in common disease programs. Patient populations are small,...
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In a recent episode of The Genetics Podcast, Patrick Short spoke with Dr. Ryan Dhindsa, Assistant Professor at Baylor College of Medicine and Investigator at th...
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The majority of rare disease discovery has been linked to protein coding genes, where changes are easier to interpret and easier to capture in routine testing. ...
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Adeno-associated virus (AAV) gene therapy has moved from proof of concept to approved products. As more programs enter the clinic and target larger patient popu...
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