For decades, treatment for congenital and genetic hearing loss has largely relied on devices such as hearing aids and cochlear implants. While these technologies have helped millions, they don’t address the underlying genetic causes of hearing loss. Now, thanks to breakthroughs in gene therapy, pharmacogenomics, and AI, a new wave of personalized hearing care is emerging—one that has the potential to restore hearing, prevent loss before it occurs, and improve diagnostic accuracy like never before.
In the latest episode of The Genetics Podcast, Patrick spoke with Dr. Raghib Ali, CEO and CMO of Our Future Health (OFH), a UK initiative aimed at recruiting 5 million participants for large-scale genetic and health data research. This ambitious program, launched in partnership with the NHS, seeks to improve early disease detection and prevention by integrating genetic, lifestyle, and environmental data. You can find out more about Our Future Health here.
Diagnosing genetic hearing loss hasn’t always been straightforward. With so many different causes and overlapping symptoms, traditional methods have often struggled to provide clear answers—especially when genetic sequencing was expensive and less accessible. But as technology advances, genetic testing is making diagnosis faster, more accurate, and more affordable, opening the door to earlier interventions and better treatment options.
In the most recent episode of The Genetics Podcast, Patrick Short sits down with Dr. Anthony Bleyer, Professor of Medicine at Wake Forest University, and Stan Kmoch, head of the National Infrastructure for Medical Genomics in the Czech Republic. This conversation is especially personal for Patrick, as both guests played a crucial role in identifying the genetic cause of kidney disease in his own family. They discuss their work in inherited kidney diseases, the challenges of genetic diagnosis, and the future of treatment, including the exciting potential of xenotransplantation.
In a recent episode of The Genetics Podcast, Patrick sat down with Michelle Werner, CEO of Alltrna and CEO Partner at Flagship Pioneering. If you’ve been following the podcast, you might remember Michelle from Episode 139, where she introduced the potential of tRNA-based therapies for rare genetic diseases. A lot has happened since then. Now, with exciting preclinical data in hand, Michelle shared Alltrna’s progress, the challenges of pioneering a new therapeutic modality, and how basket trial design could change the way we approach rare disease treatment.
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In last week’s episode of The Genetics Podcast, Patrick spoke with Jocelynn Pearl, Director of Cancer Cell Therapy at the TAM Center. With a career spanning genomics, biotech, and decentralized science, Jocelynn has a unique perspective on the intersection of technology, research, and patient care. From her early work in systems biology to her current role in cancer immunotherapy, she shares her thoughts on how research is evolving and where it’s headed next.
Effectively balancing the essential role of ethical and legal regulations with the challenges of patient finding and enrollment within a complex and competitive landscape requires a proactive approach. In this blog, we'll outline key approaches to achieving balance:
Growing numbers of rare disease clinical trials mean it’s never been more important to ensure that patient recruitment campaigns are identifying the right patients in support of the future of treatment development. However, conversion and compliance can feel increasingly in conflict when stringent regulations present barriers to participation.
In last week’s episode of The Genetics Podcast, Patrick Short spoke with Dr. Eric Adler, Professor of Medicine at UC San Diego and Chief Medical Officer at Lexeo Therapeutics. Dr. Adler’s work bridges the gap between cutting-edge gene therapy research and patient-centered cardiology, particularly for those with genetic heart diseases like Danon disease.
In last week’s episode of The Genetics Podcast, Patrick sat down with Dr. Versha Pleasant, Clinical Assistant Professor at the University of Michigan and Director of the Cancer Genetics and Breast Health Clinic at the Von Voigtlander Women’s Hospital. Versha’s work focuses on addressing racial health disparities, particularly in breast cancer outcomes for Black women, and expanding access to genetic testing and counseling.