October 9, 2020
Erin Heinzen, Pharm.D., Ph.D. recently received two collaborative R01 grants totaling $7 million from the National Institute of Neurological Disorders and Stroke to identify and study epilepsy-causing genetic variants that arise during brain development.
One grant focuses on identifying genetic variants that are responsible for seizures by studying the brain tissue of individuals with epilepsy who undergo surgery to treat persistent seizures.
“As a first priority we seek to identify the causes of seizures in children and adults who suffer from seizures that do not stop with any available medication. Once we know the cause we can then study what the variants do in the brain that causes the person to develop seizures,” said Heinzen, an associate professor in the UNC Eshelman School of Pharmacy’s Division of Pharmacotherapy and Experimental Therapeutics. She also holds a joint appointment in the UNC Department of Genetics.
The second grant will focus on studying the effects of SLC35A2 variants (discovered by Dr. Heinzen’s lab in 2018) on brain development and activity using human neurons derived from induced pluripotent stem cells.
SLC35A2 encodes a transporter that moves UDP-galactose into the Golgi apparatus of each cell where it is used to make glycans. Glycans attach to many proteins in the body and help regulate their activity. Without normal glycan production in the brain individuals can sometimes develop severe seizures.
In this study, Heinzen, along with Dulcie Lai, Pharm.D., Ph.D., and collaborators at Columbia University, Sanford Burnham Prebys Medical Discovery Institute, and the University of Maryland, will study the effects of these variants and how the neurons develop and fire.
“The hope is that this work will illuminate novel treatment options for these individuals who have debilitating seizures,” said Lai, postdoctoral fellow leading the work.
At UNC, the Heinzen Lab focuses on the genetic and genomic basis of epilepsy disorders, including analyses of the role of germline mutations, somatic mutations, and how regulation of the cellular transcriptome influences the risk and presentation of seizures. In collaboration with a number of investigators in neurology, neuropathology, and neurosurgery, Heinzen’s group studies the role of somatic mutations in epilepsy and other neurological diseases.
To date, Heinzen has contributed to the discovery of 15 novel epilepsy genes, and the gene responsible for Alternating Hemiplegia of Childhood, a rare neurodevelopmental disorder.
She is also a part of multiple highly collaborative research groups including the Epi4K Consortium, Epi25 Collaborative, EPIGEN, the ILAE Consortium of Complex Epilepsies, Pediatric Status Epilepticus Research Group, and the Epilepsy Genetics Initiative.
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