blog-icon

Clinical research blog

Explore our blog for insights into the big questions in precision medicine and clinical research.

Podcast recap: Sharon Terry on patient-led research, biobanking, and the future of rare disease advocacy

In the latest episode of The Genetics Podcast, host Patrick Short sat down with Sharon Terry, the CEO of Genetic Alliance, to discuss her extraordinary journey from a homeschooling mother to a leader in rare disease advocacy. Sharon has pioneered patient-led research, built innovative biobanking solutions, and played a key role in landmark policies like the Genetic Information Nondiscrimination Act (GINA). Their conversation covered everything from the challenges of running a patient-led biobank to the future of rare disease drug development and international collaboration.

Continue reading

Overcoming barriers to genetic hearing loss treatment

Despite the huge potential of new technologies to enable precision approaches to diagnosing, managing and treating genetic hearing loss, significant barriers and challenges to implementation remain. First and foremost, the complex heterogeneity of hearing loss conditions means that getting an accurate diagnosis can be a challenging process. This in turn impacts treatment development efforts, as, despite having high efficacy, the majority of gene therapy treatments are limited to treating highly specific mutations within a single gene. In this blog, we explore key barriers to genetic hearing loss treatment.

Continue reading

The future of hearing: How gene therapy and precision medicine are transforming treatment [whitepaper]

Hearing loss affects over 1.5 billion people worldwide, with nearly half of all cases linked to genetic factors. Despite this, diagnosis and treatment options have remained limited, especially in low- and middle-income countries. However, advances in precision medicine and gene therapy are changing this by offering the potential for earlier diagnosis, targeted interventions, and even hearing restoration.

Continue reading

Podcast recap: Dr. John Lepore on the expanded human proteome and the future of drug discovery

In the latest episode of The Genetics Podcast, Patrick spoke with Dr. John Lepore, physician-scientist and CEO of ProFound Therapeutics. ProFound Therapeutics, a company incubated at Flagship Pioneering, is leading an entirely new approach to drug discovery by exploring the "expanded human proteome." With a background spanning nearly two decades at GSK, where he ultimately led R&D as Senior Vice President, Dr. Lepore brings deep experience in translating scientific discoveries into impactful therapeutics.

Continue reading

The future of hearing loss treatment

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.

Continue reading

Podcast recap: Dr. Raghib Ali on Our Future Health and large-scale genetic research

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.

Continue reading

Advancing the diagnosis of genetic hearing loss

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.

Continue reading

Podcast recap: Anthony Bleyer and Stan Kmoch on hunting rare kidney disease mutations

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.

Continue reading

Podcast recap: Michelle Werner on tRNA therapeutics, basket trials, and innovation in rare disease

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.

Continue reading

Podcast recap: Jocelynn Pearl on systems biology, decentralized science, and innovation in cancer cell therapy

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.

Continue reading