Blog

Phelan-McDermid Syndrome families inspire zebrafish research study

By Geraldine Bliss
PMSF Board Member, Parent

If you attended the 2016 or 2018 McPosium, you might remember meeting two young investigators, David James and Robert Kozol, and their mentor, Dr. Julia Dallman from the University of Miami at Coral Gables.  When they attended the 2016 McPosium, they had recently published a paper on a SHANK3 knockdown zebrafish.  Inspired by the stories they heard from families, they turned their attention to gastrointestinal abnormalities in the zebrafish.  David James returned to the 2018 McPosium to present a few of the GI findings at the poster session.  In fact, David won the top prize for his poster (shown below with mentor Dr. Dallman).  Just last week the complete findings were published here

You may click here to read more about the research and about one PMS family, in particular, who left a profound impact on the research team.

PMSF | Phelan-McDermid Syndrome Foundation