• Royce Fellowship
Tara Srinivas
Tara
Srinivas

Concentration 

Neuroscience

Award Year 

2019
Genetic underpinnings of intellectual disability: the role of GPT2 in amino acid metabolism

Intellectual and developmental disability (IDD) is the leading cause of lifelong disability in the United States. For many patients and families, these disorders pose significant challenges to quality of life. However, current clinical approaches are widely ineffective, as the genetic causes of IDD remain unclear. The Morrow Lab has reported loss-of-function mutations in the GPT2 enzyme in kindreds presenting with IDD. This research seeks to elucidate the role of GPT2 in mitochondrial amino acid metabolism and synaptic development, which are imperative to intellectual function.

Advisor: Eric Morrow (Molecular Biology, Cell Biology, and Biochemistry)