On this #OMFScienceWednesday we introduce you to researcher Robert Phair, PhD, running the OMF-funded metabolic trap project. Today, Dr. Phair shares his personal connections and how he became a part of OMF’s End ME/CFS research project.
“I was a professor of physiology and biomedical engineering at The Johns Hopkins School of Medicine for 16 years before co-founding (with Ann Chasson) Integrative Bioinformatics Inc, a scientific consulting and software development firm in Mountain View, CA. We combine basic principles from human biology and systems engineering to test complex biological theories against experimental and clinical data. Our clients are scientists at research institutions and pharmaceutical firms.
My neighbor, Marilyn S., is a ME/CFS patient. She and I had been discussing ME/CFS at weekly neighborhood get-togethers for about two years when another neighbor, Karin Molander, gave us a copy of her Stanford Medical School alumni magazine with an article, written by Tracie White, telling the story of the Davis/Dafoe family and Ron Davis’ ME/CFS research effort at the Stanford Genome Technology Center (SGTC).
A chain of family friendships in Silicon Valley linked me to Laurel Crosby, PhD, a member of the Davis team. Laurel invited me to visit SCTC and talk with her and Ron. I spoke with them for a half hour in July 2016, and it was obvious we all thought a collaboration was a good idea.
I worked as a volunteer for a year and a half learning everything I could about ME/CFS. The great thing about this collaboration was that, for the first time, I actually had ME/CFS data to analyze and a bunch of smart colleagues with whom to work. During this period, the first results of the OMF-funded, Severely Ill Patient Study (SIPS) became available. These data included whole genome sequencing for 20 patients, and I began to look, one gene at a time, for potential genetic predispositions. Eighty-six genes later, I found a gene for which every SIPS patient had at least one damaged copy. But because another gene provided a biological workaround, it took me all summer to imagine a theory that might explain the origin of ME/CFS based on this common mutation. This is the theory I called the “Metabolic Trap.”
When I presented my theory to the SGTC ME/CFS team, I felt definite enthusiasm. That night I got a rare text from Ron: “That was an outstanding presentation.” Naturally, this made me feel great, and shortly afterwards, OMF funded the project, in February 2018. This made it immediately possible for our company to collaborate with SGTC scientists, Curt Fischer and Julie Wilhelmy (also OMF-funded).
We’re doing experimental tests of the metabolic trap hypothesis by applying the techniques of tracer kinetics and mass spectrometry to white blood cells from ME/CFS patients and people who are healthy. The first experiments are well underway. The reason I want to work on this disease, the reason I’ve invested so many days and nights, will be obvious to anyone who is or cares for or knows a victim of ME/CFS. Anyone who has read Hillary Johnson’s Osler’s Web or has seen the moving documentary films, like Jen Brea’s Unrest, knows why we are working. Anyone who has attended a Millions Missing rally and listened to Ron Davis and Janet Dafoe speak so eloquently about the tragedy and the courageous hope of their son, Whitney, has felt in their hearts the reason this work is so important to me. We’ve seen Whitney’s Plea. We won’t give up.”
Thank you Dr. Phair for being a part of our stellar team. Read more about Dr. Phair’s metabolic trap project.