“Precision Diagnostics for Glucose Transporter Deficiency Disorders Using Deep Mutational Scanning”
Hosted by the Division of Pediatric and Developmental Neurology
Dr. Gurnett will receive an award in honor of Jean Holowach Thurston (1917-2017), a renowned founding faculty member in the Division of Pediatric and Developmental Neurology whose knowledge of brain metabolism and pioneering clinical research was legendary.
Dr. Gurnett’s work addresses a widespread problem that limits the utility of genomic medicine, namely the vast number of variants of uncertain significance in our genomes. Her laboratory has developed deep mutational scanning methods to quantify the effects of every possible single nucleotide variant in important disease genes, including SLC2A1, the genetic cause of GLUT1 deficiency syndrome that is treatable with the ketogenic diet. Variants in SLC2A1 cause a range of phenotypes ranging from early-onset epileptic encephalopathy and microcephaly to isolated movement disorders, developmental disability, and absence epilepsy.
For inquiries contact Dorothy Campbell.