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The Genetics Podcast featuring Matthew Goldstein

rare disease genetic testing podcast recap

Podcast recap: Matthew Goldstein on expanding access to genetic screening

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...

patient recruitment rare disease

Why site selection is failing rare disease trials and what to do differently

Rare disease trials operate under structural constraints that make site selection more important than in common disease programs. Patient populations are small,...

rare disease patient engagement

Rare disease drug development requires designing for access from day one

Rare disease innovation has accelerated in recent years, particularly in cell and gene therapy (CGT). Yet for drug developers, one challenge remains persistent:...

The Genetics Podcast featuring Ryan Dhindsa and Caleb Lareau

biomarkers genetic epidemiology podcast recap

Podcast recap: Ryan Dhindsa and Caleb Lareau on using biobank genomics to measure EBV persistence

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...

The Genetics Podcast featuring Nicky Whiffin

genetic testing neurodegenerative disease podcast recap

Podcast recap: Nicky Whiffin on the discovery of ReNU syndrome and what it unlocks for genetic medicine

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. ...

The Genetics Podcast featuring David Dismuke and Steven Gray

rare disease podcast recap

Podcast recap: David Dismuke and Steven Gray on scaling AAV gene therapy

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...

rare disease patient engagement

Barriers to long-term follow-up in cell and gene therapy

Cell and gene therapy (CGT) programs are committing to 10-15 years of follow-up – often without the infrastructure to support it. FDA guidance for certain gene ...

The Genetics Podcast featuring Daniel Chung

rare disease genetic testing podcast recap

Podcast recap: Daniel Chung on the evolution of retinal gene therapy

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...

patient recruitment patient engagement

From click to randomization: What truly predicts trial success?

Digital recruitment has become a standard part of clinical trial execution. Sponsors invest heavily in online outreach, patient referrals, and awareness campaig...

rare disease protocol design

Rethinking drug approval for ultra-rare disease: Inside the UK’s n-of-1 ASO trial

Last week, the rare disease field celebrated another breakthrough. A teenage girl with an ultra-rare genetic neurodegenerative disease was treated with a bespok...

Clinical research blog