# Genetic Underpinnings of CM and SM and Effect on Brain Development

> **NIH NIH P01** · WASHINGTON UNIVERSITY · 2024 · $85,299

## Abstract

PROJECT SUMMARY
Chiari type I malformation (CM1), the herniation of the cerebellum through the foramen magnum into the spinal
canal, is one of the most common pediatric neurological conditions, found in approximately 1 in 1000 individuals.
CM1 is characterized by the herniation of the cerebellum through the foramen magnum into the spinal canal,
often leading to syringomyelia (SM), a fluid-filled cyst within the spinal canal, obstruction of normal cerebrospinal
fluid flow, compression of the brainstem and numerous neurological symptoms. We now have identified some of
the first genetic causes of CM1 and have identified idiopathic macrocephaly as a major etiological subtype of
CM1. By identifying additional genetic factors underlying CM1 and CM1-related imaging biomarkers, we hope to
uncover additional CM1 subtypes and their genetic basis. Additionally, our goal is to understand the role of CM1-
associated genetic variation that we have already identified by modeling specific genetic variants in zebrafish to
determine what systems are affected (brain, spine, skull, ventricular system) that lead to the common outcome
of hindbrain displacement. Earlier and more accurate diagnoses for CM1 patients will have profound effects,
informing clinical decisions regarding who should undergo surgery (versus CSF shunting vs surgery+spinal
fusion vs observation, etc) and along what time frame.

## Key facts

- **NIH application ID:** 10876268
- **Project number:** 5P01NS131131-02
- **Recipient organization:** WASHINGTON UNIVERSITY
- **Principal Investigator:** Gabriel E Haller
- **Activity code:** P01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $85,299
- **Award type:** 5
- **Project period:** 2023-07-01 → 2028-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10876268

## Citation

> US National Institutes of Health, RePORTER application 10876268, Genetic Underpinnings of CM and SM and Effect on Brain Development (5P01NS131131-02). Retrieved via AI Analytics 2026-05-28 from https://api.ai-analytics.org/grant/nih/10876268. Licensed CC0.

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