Dr. Heller is an epigeneticist who pioneered methods to study the epigenetic regulation of disease genes. Her career has focused on diseases of addiction and depression, and her lab is now also researching Syngap1.  Dr. Heller has a personal connection to the Syngap1 community through her niece Ruby, and will receive SRF funding for a postdoctoral fellow starting in 2021. #SRFHeller

A decrease in Syngap1 expression is what causes the Syngap1 neurodevelopmental disorder.  Dr. Heller studies increases and decreases in gene expression due to epigenetic changes, and so will use that approach to look for places to increase Syngap1 expression as a way to treat the disease.

By examining published data sets for both human and mouse genomes, Dr. Heller can find targets to increase Syngap1 expression.  By deep sequencing mouse brains she can find which Syngap1 isoforms (natural complexity of the gene) are present in which cell types, look at splice machinery available in different cell subtypes, and look at gene expression after drug treatment.

Dr. Heller’s studies will provide foundational pieces of information about our gene.  We are lucky that she is studying Syngap1.

You may also like

SynGAP modulates the body's biological clock: What Syngap1 mice can tell us about light & sleep

Sydney Aten, PhD

Ohio State University

Types of seizures and EEG patterns in SYNGAP1

Angel Aledo-Serrano, MD, PhD

Hospital Ruber Internacional (Madrid) & Clinica Corachan (Barcelona)

Functional assessment of missense variants of SYNGAP1

Kurt Haas, PhD

University of British Columbia