# Understanding the mechanisms of congenital hydrocephalus using genomic sequencing approaches

> **NIH NIH R21** · UNIVERSITY OF ALABAMA AT BIRMINGHAM · 2023 · $392,855

## Abstract

Congenital Hydrocephalus (CH) is a condition that affects the brain and results from an abnormal accumulation
of cerebrospinal fluid (CSF) within the cerebral ventricles. The current treatments for hydrocephalus are surgical
interventions, which accompanies a high failure rate. Although extrinsic factors such as hemorrhage or infections
may cause CH, recent studies have identified some CH-associated genes or mutations, emphasizing the role of
genetics in CH. However, these genetic factors only account for approximately 22% of sporadic CH cases, and
many cases remain unsolved. Therefore, there is an urgent need to accelerate the understanding of CH through
the cutting-edge technologies. Without leveraging these novel methods, the discovery of additional causal
genetic factors of CH and the advancement of accurate diagnoses and treatments may be hindered. The long-
term goal is to understand the molecular mechanisms and consequences underlying CH using orthogonal
phenomic, genetic, and multi-omics approaches. The overall objective is to develop and apply new genomics
tools to advance our understanding of the biological mechanisms of CH. The central hypothesis is that there are
additional genetic variations in germline or somatic and/or specific malfunctioning cell types that contribute to
the etiology of CH. To test this hypothesis, the PIs and team will pursue the following aims. 1) Comprehensive
characterization of all forms of variations in both germline and somatic tissue from CH patients with short- and
long- read whole genome sequencing. 2) Identification of abnormal cell types and understanding their function
and contribution to CH through single-cell genomics analysis. Upon completion, it is expected that new variations
either in the germline or somatic may contribute to CH.

## Key facts

- **NIH application ID:** 10789333
- **Project number:** 1R21NS135321-01
- **Recipient organization:** UNIVERSITY OF ALABAMA AT BIRMINGHAM
- **Principal Investigator:** Zechen Chong
- **Activity code:** R21 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2023
- **Award amount:** $392,855
- **Award type:** 1
- **Project period:** 2023-09-11 → 2026-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10789333

## Citation

> US National Institutes of Health, RePORTER application 10789333, Understanding the mechanisms of congenital hydrocephalus using genomic sequencing approaches (1R21NS135321-01). Retrieved via AI Analytics 2026-05-27 from https://api.ai-analytics.org/grant/nih/10789333. Licensed CC0.

---

*[NIH grants dataset](/datasets/nih-grants) · CC0 1.0*