In this episode of The Helix Exchange, the guest is Dr. Lon Cardon joins to discuss the opportunity that genomics has to "redefine the taxonomy of human disease". He suggests that diseases like Alzheimer's are not a single disease but rather a spectrum that might be treated in many different ways, similar to how breast cancer has 80 different histological subtypes. This idea aligns with the concept of precision medicine, which involves thinking about diseases as "collections of related diseases but with different pathways and probably different treatment paradigms". *The Jackson Laboratory (Jax)* *History:* The Jackson Laboratory, founded in 1929, invented the use of laboratory mice to study human diseases, particularly cancer. The ambition was to develop 50 different strains of mice, but today Jax has over 14,000. *Current Work:* Jax works with 2,800 institutions across 68 countries, providing a cornerstone for biomedicine and animal usage. The laboratory conducts basic discovery and enables research globally, from academia to pharma. *Mouse Model:* While some researchers are frustrated that animal models don't always reflect what happens in humans, Dr. Cardon does not see the end of animal models for drug discovery. He emphasizes that it would be irresponsible to test an investigational drug in humans without testing it in a "full system" to understand its effect on different organs. Jax's view is that the use of mice should change, focusing on better selection of the right tools and augmenting them with cell models and AI. *The New York Stem Cell Foundation Acquisition* *Strategy:* Jax recently acquired the New York Stem Cell Foundation (NYSCF) to augment their animal models with the latest tools, particularly in the context of drug discovery. This move aims to address "the valley of death" in drug discovery, the gap between basic science understanding of human biology and successful pharmaceutical development. *Goal:* The acquisition seeks to reduce the high cost (estimated at $2 to $4 billion) and long timeline (15 years) of drug development by decreasing the number of failures. By combining mouse models with cell models and AI, Jax aims to better predict what will happen in humans, thereby increasing the probability of success and reducing cost. *Pluripotent Stem Cells:* NYSCF's technology involves pluripotent stem cells, which can be taken from a person's skin or blood and converted into their primordial state, then advanced into any tissue, such as a mini beating heart or a neuron. The dream is to combine this cellular testing—which includes a person's complete DNA—with the appropriate mouse model, which may be humanized with the same DNA, to increase the chances of success in drug discovery. *Standards:* Jax intends to use its experience in setting standards for reproducibility and sustainability for mice to establish similar standards in the stem cell world, which does not yet have them. *Future Outlook* *Near-Term Vision:* Dr. Cardon wants Jax to execute on the "cells plus mice underpinned by AI" link, becoming the go-to partner for all pharma companies. *Baby KJ Story:* An example of the potential for accelerated treatment is the "Baby KJ story," where a newborn diagnosed with a rare disease received a personalized treatment, specifically made for the child's DNA mutations, within seven months of diagnosis. *Newborn Sequencing:* Dr. Cardon believes that newborn sequencing, like the heel prick tests currently done for babies, will become a matter of time and economics because the DNA a person is born with (germline DNA) does not change and only needs to be measured once. This could help find undiagnosed or misdiagnosed rare diseases and provide information for pharmacogenomics. *AI:* AI is expected to speed up science and will open up new hypotheses in linking cells and mice. However, Dr. Cardon suggests that AI works best on problems already known how to be solved and may not fully replace human interrogation in science discovery today. *Optimism:* While genomics has been disappointing in translating discoveries to practice, Dr. Cardon is now "more optimistic than I have ever been" because the necessary tools (sequencing, gene editing, animal models, cell work) are available. The current challenge is execution and putting the pieces together. Whether you’re a healthcare leader, biotech founder, investor, or genomics enthusiast, this episode offers a clear, grounded look at where personalized medicine is headed next.
