Untargeted metabolomics to map defects arising in Snyder-Robinson syndrome

MDBRSRS
Written By Million Dollar Bike Ride

Awardee: Ankur Jain

Institution: Whitehead Institute for Biomedical Research

Grant Amount: $74,691

Funding Period: February 1, 2022 - January 31, 2023

Summary:

Snyder-Robinson syndrome (SRS) is a rare, X-linked genetic disorder caused by mutations in the spermine synthase (SMS) gene. In this project, we will examine how this mutation changes the small molecule metabolite composition of the cell. This work may reveal new disease biomarkers, and may potentially inform intervention strategies.

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