from Dr Nick van Terheyden aka Dr Nick
Host of Dr. Nick: The Incrementalist#TheIncrementalist

In this episode I spoke to Gerry Landman, PhD, MPH pediatric emergency physician and Zach Landman, MD, MPH Fellow in Interventional Pain Medicine at Stanford University. Their daughter Lucy (@lucythepgap3goose) has a rare single-gene disease – she has two bad copies of PGAP3 gene, one of many genes involved in cell communication. In Lucy’s case, a small amino acid difference in the a protein molecule (Phospholipase C).

Any parent will recognize the anguish of this and the challenge of finding answers, which is especially difficult in this case with the parents being doctors and the mother being a pediatrician. Their journey to diagnosis was not easy and, as you will hear, involved a degree of luck with one of the neurologists they saw being trained in neurogenetics and ordering tests that ultimately confirmed her diagnosis.

Personalized medicine for everyone
Although this condition is rare, it represents a major part of our future of medicine and the next frontier of personalized medicine. Our understanding of the human body has moved from a very granular disease and organ based approach to a much more individualized, cellular and personalized breakdown of disease. We classify many or most types of cancer based on the organ in the body affected, but it is becoming clear that cancer cells have their own taxonomy that is perhaps better built on the type of cell. As our understanding improves, we encounter smaller and smaller groups of patients. From a treatment perspective, this may mean that the therapies developed can be applied to fewer patients and diseases. Our current economic mechanisms and approach to therapies do not support this new frontier very well, creating gaps in the resources needed to advance research, and we need new models and approaches.

Listen in to hear Geri and Zach describe the different treatment options open to Lucy and others like her, and the work they’ve done to build research organizations and accelerate work to create a cure not only for Lucy, but and for many other people. They are determined to create a new class of therapies and approval processes that will enable accelerated development and use of individualized treatments that will expand access and lower costs to make it available to more people.

Lucy recently turned one and time is not on her side. They and Lucy need your help in any form – you can email and find out more by Moonshots for Unicorns and support Lucy, Gerry and Zach in Lucy’s GoFundMe page.

About the show
For years, Dr. Nick van Terheyden, aka Dr. Nick, has served as a voice on the impact of new technologies on healthcare, earning a reputation as a leading authority on where the future of medicine is headed. Combining observational abilities and real-world experience, Dr. Nick has seen many predictions come true and argues that healthcare innovation can be achieved incrementally, not just through moonshots. Tune in to listen Dr. Nick: The Incrementalist and his guests discuss what the future of health care looks like, how we’ll get there, and what it will take to improve health care for all.

This article was originally published on Dr. Nick – The Incrementalist blog and is republished here with permission.

Personalized Medicine for Everyone

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