Therapeutics that Correct the Underlying Cause of Smith-Magenis Syndrome (SMS)

NIH RePORTER · NIH · R21 · $189,056 · view on reporter.nih.gov ↗

Abstract

Project Abstract Smith-Magenis syndrome (SMS) is an autosomal dominant neurodevelopmental disorder characterized by the deletion of one Rai1 allele (Retinoic Acid Induced-1). As a transcription factor, this deletion causes a reduction in Rai1 expression and concomitant changes in expression of downstream targets, many critical to neurodevelopment and function. We have assembled a small library that were selected based on their ability to increase Rai1 expression. Our overarching goal is to demonstrate that Rai1 expression in SMS can be increased using a pharmacologic approach and many of the transcriptomic defects can be corrected.

Key facts

NIH application ID
10869445
Project number
1R21HD115076-01
Recipient
NEUROSANT THERAPEUTICS LLC
Principal Investigator
Shawn DeFrees
Activity code
R21
Funding institute
NIH
Fiscal year
2024
Award amount
$189,056
Award type
1
Project period
2024-07-10 → 2026-06-30