Sano Genetics

Genetic evidence doesn’t just improve science. It changes how trials succeed or fail.

Genetic evidence doesn’t just improve science. It changes how trials succeed or fail.

As gene-therapies develop, it'll be interesting to see how sponsors navigate diseases where genetic testing isn't part of the diagnostic odyssey. Take ADPKD - diagnosed by a scan to find cysts and family history. The gene underneath (PKD1 or 2) rarely gets confirmed, and why would it? No current treatment asks the question. So I'll be keeping my eye on Estuary Biotherapeutics, Inc.: they secured $103M for EST-201 and EST-101 (both preclinical). They estimate >100k rapidly-progressing PKD1 patients in the US alone, unsorted by gene or disease progression. Their work will be to genotype and stratify a large, loose population; rather than the typical needle-in-a-haystack. But even though that sounds like a 2027-2028 problem, when the drugs hit the clinic, protocol decisions need to be made today on how they'll confirm each patient's mutation. The test nobody needed will soon become a hurdle. https://lnkd.in/eJbxHEHm

In 2017, a Facebook message about a girl in Colorado led one lab to build the first medicine made for a single patient. Listen to the full episode.

Dr. Beth Shapiro (Colossal Biosciences) on how mapping tiny mammoth DNA fragments to a living relative's genome makes de-extinction possible. Listen to the full episode.

Eric Fauman (Pfizer) has annotated 100,000 GWAS hits using a simple rule of thumb that still holds up most of the time. Listen to the full episode.