Rare disease drug development involves decision-making under extreme uncertainty. Teams are asked to design trials without well-established endpoints, in small ...
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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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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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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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In the latest episode of The Genetics Podcast, we spoke with Dr. Daniel Chung, Chief Medical Officer at Beacon Therapeutics. The conversation focused on how ret...
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As genetic medicine has continued to advance, experts have consistently highlighted the importance of newborn genomic screening as a practical avenue for early ...
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