Scientific Team

wendy

Dr. Wendy Chung, MD, PhD

Columbia University

Overall Study Principal Investigator
Professional Photo_Mirzaa_2018-min

Dr. Ghayda Mirzaa, MD

Seattle Children's Hospital

Clinical and Molecular Spectrum of PP2A Related Disorders
Janssens

Dr. Veerle Janssens, PhD

KU, Leuven

Signaling functions of PP2A in cancer cells, in neuronal processes and neurologic diseases
Honkanen

Dr. Richard Honkanen, PhD

University of South Alabama

Ser/Thr phosphatase inhibitors and high throughput screens
Strack,Stefan

Dr. Stefan Strack, PhD

University of Iowa

Protein phosphatase 2A in neuronal signal transduction
Xing

Dr. Yongna Xing, PhD

University of Wisconsin-Madison

PP2A structural biologist
Wadzinski

Dr. Brian Wadzinski, PhD

Vanderbilt University

PP2A cell biology in Drosophila
xia

Dr. Houhui (Hugh) Xia, PhD

University of Rochester

PP1 in the nervous system; mouse models with altered PPase activity in the brain; electrophysiology and behavior
Kyle Fink

Dr. Kyle Fink, PhD

UC Davis Neurology and
Institute of Regenerative Cures

Stem Cell Program
Jan Nolta

Dr. Jan Nolta, PhD

UC Davis Institute
for Regenerative Cures

Stem Cell Program
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An International Dream Team

PPP2R5D Researchers

Top researchers from around the globe are assembling to examine the link between known PPP2R5D, PPP2R5C, and PPP2R1A gene variations identified in children and neurodevelopmental disorders including autism, intellectual disabilities, behavioral challenges and seizures.

The international team of human geneticists, neurologists, psychologists, biochemists, protein modelers, model organism researchers and cancer biologists aim to study the mechanism of the gene variation to gain a deeper understanding and develop possible treatments for the future.

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PPP2R5D STUDY DETAILS & IMPACTS

This research has the potential to touch millions of lives. Here's how.

READ: PPP2R5D Study Prospectus

READ: PPP2R5D Study Summary

WATCH: Dr. Wendy Chung On PPP2R5D

UNDERSTANDING THE RESEARCH

Recent research studies have identified several variances (mutations) occurring in the genes PPP2R5D, PPP2R5C, and PPP2R1A that are related to or causing a host of neurodevelopmental disorders in the human brain. These disorders include Intellectual Disability (ID), some forms of Autism Spectrum Disorder and associated physical conditions. In addition, the identified mutations are also linked to Alzheimer’s Disease, epilepsy, Parkinson's disease, and certain forms of cancer.

FREQUENTLY ASKED QUESTIONS

RESEARCH PROPOSAL & GOALS

ADDITIONAL VARIANTS

Recently, our research team has identified variants on two additional genes. It is believed these variants are connected to the PPP2R5D study. We have now incorporated the variants on these genes, PPP2R51A and PPP2R5C, into our research. The symptoms and impacts appear similar to those caused by the mutation on the gene PPP2R5D which causes Jordan's Syndrome. We are welcoming families with loved ones impacted by these additional gene variations into our global community.

LEARN FROM THE EXPERTS

The research team goes in-depth to
explain what's known about PPP2R5D.

HighLevelDiagram