In the last episode of The Genetics Podcast, we spoke with Dr. Ellen Reisinger, Professor at the University of Tübingen. Ellen has spent nearly twenty years studying the molecular mechanisms of hearing, particularly the role of otoferlin (OTOF) in inner hair cell neurotransmission. Her early work was fully basic science, focused on gene expression during cochlear development and the fundamental biology of hair cell function.
Recent activity in the US and UK offers important signals for how personalized and rare disease therapies may evolve. Scientific teams are building structured editing platforms, regulators are considering new evidence models, and national systems are exploring flexible licensing approaches. Taken together, these shifts reflect growing recognition that traditional development and regulatory pathways cannot accommodate the rising number of gene-specific and variant-specific therapies. They point toward practical strategies that could make next-generation therapies more feasible to develop and deliver. This blog highlights three developments and what they could mean for future sustainability and commercial viability in precision medicine.
At the recent Evolution of the Cell and Gene Therapy (CGT) Sector Workshop by the Alliance for Regenerative Medicine (ARM), speakers from across industry, academia, and advocacy explored what needs to happen next for cell and gene therapies to become reliably scalable, reimbursable, and accessible to patients who need them.
On the latest episode of The Genetics Podcast, we spoke with Ananth Sridhar, Chief Operating Officer for cardiorenal programs at BridgeBio, and Sun-Gou Ji, the company’s Vice President of Computational Genomics. The conversation explored how BridgeBio’s distinctive hub-and-spoke model enables sustainable rare disease drug development, how genetics drives their discovery work, and why the right economic model is essential for tackling small patient populations.
AI is becoming a core component of drug development and clinical research. Models are improving and regulatory frameworks are evolving, but progress still depends on the quality and structure of the underlying data. To move from experimental AI to operational AI, organizations need datasets that are traceable, standardized, and auditable from source to model output.
In drug discovery, data is the key to success. Although more and more large-scale data is being generated every year, much of it is inaccessible or fragmented. Genomic sequences sit in one silo, proteomic measurements in another, imaging data in a third, and clinical information across even more systems. The result is vast potential locked behind barriers due to inconsistent formats and disconnected workflows.
In the last episode of The Genetics Podcast, Patrick spoke with Justin Porcano, co-founder and executive director of Save Sight Now, a nonprofit accelerating therapies for Usher syndrome type 1B (USH1B). Justin and his wife, Rosalyn, launched Save Sight Now after their daughter, Leah, was diagnosed in 2018. The rare genetic condition causes profound deafness at birth, vestibular dysfunction, and progressive vision loss.
Gene editing has progressed significantly over the past decade, evolving from an experimental technology that was associated with safety and efficacy limitations into a legitimate therapeutic avenue that has been tested across diseases and patient populations. Yet, while technical progress has been remarkable, real-world impact remains uneven. Investment, accessibility, and disease diversity continue to lag behind the field’s scientific potential.
In a special live episode of The Genetics Podcast, recorded at the American Society of Human Genetics (ASHG) meeting, host Patrick Short was joined by two of the field’s leading voices: Dr. Heidi Rehm, Chief Genomics Officer at Massachusetts General Hospital and Co-Director of the Medical and Population Genetics Program at the Broad Institute, and Dr. Slavé Petrovski, Vice President of the Center for Genomics Research at AstraZeneca.
On this episode of The Genetics Podcast, Patrick spoke with Chris Hopkins, CEO of Glafabra Therapeutics, a company developing a one-time autologous cell therapy for Fabry disease. The therapy is designed to provide durable enzyme replacement without the limitations of current treatments and may serve as a platform for other lysosomal storage disorders.