FAM177A1 was the star of the show during the March 10, 2022 UDN Grand Rounds.
Jennefer Kohler, Genetic Counselor from the Stanford Center for Undiagnosed Diseases described how their team found Charlotte and Cooper's variant and how they used case matching to characterize this new condition involving the FAM177A1 gene. She also includes the characteristic clinical features of the eleven FAM177A1 patients (yes, we are now up to 11!), describes ongoing research and the excellent collaboration we have with teams at the MOSC at Washington U (hello FAM zebrafish!) and Dr. DeCamilli's lab at Yale.
It's about 15 min that sums up our diagnostic odyssey from a genetic viewpoint.
Thanks Jennefer and the entire UDN-Stanford team!