In the latest episode of The Genetics Podcast, host Patrick Short welcomes Dr. Lon Cardon, CEO of the Jackson Laboratory, to discuss his career journey, the rise of genome-wide association studies (GWAS), the shift from candidate gene studies, and the future of drug discovery in both rare and common diseases. With a career spanning academia, industry, and now leading one of the most iconic genetics research institutions, Lon shares his insights into how the field of genetics has evolved and what lies ahead.
The early days of genomics and GWAS
Lon's involvement in the first genome-wide association study marked a turning point in genetics research. Before GWAS, association studies had a poor reputation due to issues with small sample sizes, unreliable markers, and weak statistical methods. Lon recalls the skepticism surrounding genetic association studies in the 1990s, but things shifted with the sequencing of the human genome in 2001. As technology improved, larger sample sizes and better statistical accuracy became possible, paving the way for the success of GWAS in the early 2000s.
Collaboration is the key to genomic breakthroughs
Lon touches on one of the key breakthroughs, which was the recognition that collaboration and data sharing would be essential. The Wellcome Trust Case Control Consortium, which Lon helped lead, demonstrated the power of pooling resources across research groups, and this realization laid the foundation for the advances we see in genetics today.
Lon describes how the field had to overcome initial resistance to data sharing, particularly as academic and industry researchers competed to be the first to identify genetic markers linked to common diseases. He reflects on how, in the past, many researchers were reluctant to collaborate due to the pressure to protect intellectual property. However, once researchers began working together, major discoveries started to pour out, especially as GWAS identified thousands of genetic markers linked to common diseases. Today, open data initiatives like the UK Biobank demonstrate the incredible power of sharing genetic data, resulting in rapid advancements in understanding disease biology.
Rare disease research fuels common disease research
As the conversation shifts to Lon’s time at GSK and BioMarin, he highlights how studying rare diseases has opened new doors in understanding common diseases. One example he shared was the research into achondroplasia (a form of dwarfism), which led to the development of a drug targeting the same genetic pathway for idiopathic short stature. Lon also goes on to discuss how other rare disease research has provided insights into more common conditions, such as epilepsy or Parkinson's disease, which are linked to genes that are implicated in ultra-rare diseases.
This new understanding of the genetic overlap between rare and common diseases is changing the approach to drug discovery. Lon believes that this intersection is where genetics will continue to have the greatest impact—by starting with rare disease mechanisms and expanding those discoveries into broader therapeutic applications.
The future of precision medicine and genetics at Jackson Laboratory
Patrick and Lon also discuss Jackson Laboratory’s ongoing efforts in precision medicine, particularly in cancer genomics. The laboratory has recently worked on a collaborative project across Maine to streamline cancer treatment by sharing genomic data among oncologists, improving patient outcomes, and ensuring patients can access the latest clinical trials. Lon is optimistic that this model of collaboration and data sharing could be expanded to other regions and diseases, bringing the benefits of precision medicine to more communities.
As the episode wraps up, Lon shares his excitement for the future of genetics research. He believes the field’s next big challenge will be rethinking how we define and classify diseases. Much like how cancer research has evolved to focus on molecular drivers rather than tissue origin, he hopes that diseases like Alzheimer’s and diabetes can similarly be reclassified based on their genetic and molecular underpinnings.
Summary
This episode provides a look at how genetics research has evolved over the past few decades, with Dr. Lon Cardon offering both a historical perspective and a forward-looking vision for the field. While working across genomics, drug discovery, and now as the leader of the Jackson Laboratory, he has first-hand experience of the power of collaboration and data sharing at the intersection of rare and common disease research.
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