# Connecting Rare Mutations to Common Pathways

> **NIH NIH P50** · WASHINGTON UNIVERSITY · 2024 · $315,000

## Abstract

Research Project, Project Summary
Intellectual and developmental disabilities (IDDs) exact a heavy emotional and financial toll on society, affecting
an estimated 1 in 6 children in the US. Developing effective therapeutic interventions to treat IDD is a challenging
problem because a large number of environmental and genetic risk factors contribute to these diseases. Indeed,
IDD-associated genetic variants have been identified in more than 700 genes, but each variant is present in only
a small number of patients, and our understanding of how these variants contribute to the disease is limited. This
high degree of genetic heterogeneity and lack of mechanistic insights confound efforts to develop effective
therapies to treat IDD. If individual mutations can be grouped by shared molecular pathways, then targeting
these pathways may be efficacious in large subsets of patients. The overall goal of our proposal is to develop
CRANIUM, a platform that will read out the genomic, transcriptional, and neuronal phenotypic signatures of IDD
genes to reveal common pathways disrupted by IDD-associated mutations.

## Key facts

- **NIH application ID:** 10880528
- **Project number:** 5P50HD103525-05
- **Recipient organization:** WASHINGTON UNIVERSITY
- **Principal Investigator:** JEFFREY D MILBRANDT
- **Activity code:** P50 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $315,000
- **Award type:** 5
- **Project period:** 2020-07-28 → 2027-05-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10880528

## Citation

> US National Institutes of Health, RePORTER application 10880528, Connecting Rare Mutations to Common Pathways (5P50HD103525-05). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10880528. Licensed CC0.

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