About the Research
Affected individuals with the PPP2R5D variations have shared clinical characteristics including developmental delay and/or intellectrual disability, macrocephaly, hypotonia, autism spectrum disorder, behavioral challenges, seizures, and distinctive facial features. The gene variation impacts the function of the brain and not the structure. This provides an opportunity to potentially correct the gene and reverse its impact.
Leading the research effort are experts from Columbia University Medical School as well as leading geneticists and researchers from around the US and other countries.
Dr. Wendy Chung, MD, PhD (Columbia University)-overall study principal investigator
Megan Cho (GeneDx)-genetic counselor
Dr. Veerle Janssens, PhD (KU, Leuven)
Dr. Ghayda Mirzaa, MD (Seattle Children’s Hospital)
BASIC SCIENCE COLLABORATORS
Dr. Stefan Strack, PhD (University of Iowa)
Protein phosphatase 2A in neuronal signal transduction
Dr. Richard Honkanen, PhD (U South Alabama)
Ser/Thr phosphatase inhibitors and has been pursuing high throughput screens recently.
Dr. Yongna Xing, PhD (U Madison)
PP2A structural biologist
Dr. Brian Wadzinski, PhD (Vanderbilt)
PP2A cell biology in Drosophila
Dr. Houhui (Hugh) Xia, PhD (U Rochester)
PP1 in the nervous system. He’s an expert in mouse models with altered PPase activity in the brain and does electrophysiology and behavior