# 2020 Fragile X and Autism Related Disorders GRS/GRC

> **NIH NIH R13** · GORDON RESEARCH CONFERENCES · 2020 · $25,000

## Abstract

Project Summary
Novel technologies to advance discovery of disease mechanisms and therapeutics
Genetic syndromes with increased prevalence of autism spectrum disorder (ASD) and intellectual disability (ID)
offer an opportunity to understand the brain pathophysiology that manifests as ASD; this knowledge can
suggest potential targeted therapies. It is now clear that the genetics underlying ASD are complicated; with
at least several hundred genes conferring small amounts of risk. More recently, studies have turned to
genomic sequencing and found several rare variants in individuals with ASD. These studies suggest a high
degree of convergence on particular cellular processes and biochemical pathways, suggesting there may be
convergence of underlying mechanisms and potential therapeutic strategies. The study of monogenic or
syndromic forms of ASD, has been a leading strategy to gain insight into the complex mechanisms of ASD.
Fragile X Syndrome (FXS) is one of the most common inherited forms of ASD and ID. Since the Fragile X gene
(FMR1) was cloned in 1991, the field has used cellular assays and model organisms to elucidate the functions
of the FMR1 protein (FMRP), the consequences of its loss and identify therapeutic targets for FXS and ASD.
Other syndromic forms of ASD, such as tuberous sclerosis complex, Rett Syndrome, Angelman Syndrome and
others, are being investigated using similar approaches. Recent technological advances in stem-cell derived
neurons, single cell sequencing, gene therapy and novel model organisms are setting the stage for
transformative advances in therapeutic development for these neurodevelopmental disorders. This conference
will bring together leading scientists and clinicians studying FXS, ASD and related neurodevelopmental
disorders with the ultimate goal of identifying the mechanisms that underlie the heterogeneous
symptomatology associated with these disorders and the best potential pathways for translating this knowledge
into clinical trials.

## Key facts

- **NIH application ID:** 9991478
- **Project number:** 1R13HD102087-01
- **Recipient organization:** GORDON RESEARCH CONFERENCES
- **Principal Investigator:** MUSTAFA SAHIN
- **Activity code:** R13 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $25,000
- **Award type:** 1
- **Project period:** 2020-03-15 → 2023-02-28

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9991478

## Citation

> US National Institutes of Health, RePORTER application 9991478, 2020 Fragile X and Autism Related Disorders GRS/GRC (1R13HD102087-01). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/9991478. Licensed CC0.

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