Hi, I’m Bill Paseman. I have p1RCC and am with rarekidneycancer.org.
My latest work involves using “hackathons” to discover rare disease treatments for particular patient cases. During a hackathon’s diagnostic stage, teams of research participants are each given the patient’s WGS and RNA-seq data and asked to find “Genes of Interest”. Next we apply gaming and AI metrics to objectively score each team’s diagnosis. This lets us redirect our limited resources in the most promising directions at the hackathon’s therapeutic stage. This, in turn, has lead to novel p1RCC diagnostic and treatment recommendations.
For example, after looking at my DNA data, Saed Sayad’s team from Rutgers picked FHL1, KNG1 and UMOD as “Genes of Interest”. These picks scored higher than 16 other teams when ranked using a holdout set consisting of my my RNA-seq’s differential expression. These picks also correlated closely with my history of DVTs and petrochemical exposure. Dr. Sayad went on to recommend investigation of Valproic acid and Baicalein as therapeutics.
My rarekidneycancer.org post “Catalyzing Research V2” describes this in more detail.
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