# Genetics and Functional Studies of Autosomal Recessive Neurological Disorders

> **NIH NIH R01** · UNIVERSITY OF MARYLAND BALTIMORE · 2024 · $601,858

## Abstract

Neurological conditions account for over 6% of the global disease burden.1 There are more than 600 neurological
disorders and cognitive dysfunction, also referred to as intellectual disability (ID), occupies a prominent position
in this list. Cognitive dysfunction arises from the failure of neuronal cells to organize into a complex network and
remodel this network in response to learning and experience. It is manifested by deficits in adaptive behaviors
in everyday social and practical skills. Due to its high prevalence,1; 2 and the lifetime cost of care per individual
in the range of $1-2 million in United Sates (CDC), it presents a significant health burden. Genetic and functional
studies of the genes and protein determinants of ID have helped to elucidate the molecular pathways of human
brain development in health and disease. However the identity of a large number of essential molecular and
cellular components still remain elusive. Building upon the resources generated during prior funding years, the
Objective of this renewal grant is to expand the genetic repertoire of causal ID genes and characterize their role
in neurons structure and cognitive function. The rationale is that identification and functional elucidation of
causative gene variants that lead to cognitive dysfunction will be essential for understanding brain function and
for developing improved diagnostic tools and efficacious preventive and therapeutic agents for neurological
disorders including ID. There are 3 aims of our comprehensive research program: 1) Ascertain and clinically
phenotype members of extended families segregating autosomal recessive intellectual disability (ARID); 2)
identify new ARID genes and gene products; and 3) determine the functions of prioritized novel ARID genes
using multifaceted approaches, including analysis of spatiotemporal expression patterns in mouse brain,
targeting in cultured rat hippocampal neurons, effects on cell morphology and synapse abundance, synaptic
transmission and plasticity in neuronal cells by electrophysiology and live-cell imaging assays. The project will
advantageously combine human clinical assessment, genetic and functional analyses relevant to brain
development and function. Impact: Execution of the proposed studies will generate new knowledge that is
clinically relevant, with high potential to impact ID molecular diagnosis, prognoses, and identify novel therapeutic
targets to slow progression, delay onset, and possibly devising precision medicine approaches for ID.

## Key facts

- **NIH application ID:** 10660031
- **Project number:** 2R01NS107428-06
- **Recipient organization:** UNIVERSITY OF MARYLAND BALTIMORE
- **Principal Investigator:** Saima Riazuddin
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $601,858
- **Award type:** 2
- **Project period:** 2018-07-01 → 2029-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10660031

## Citation

> US National Institutes of Health, RePORTER application 10660031, Genetics and Functional Studies of Autosomal Recessive Neurological Disorders (2R01NS107428-06). Retrieved via AI Analytics 2026-05-27 from https://api.ai-analytics.org/grant/nih/10660031. Licensed CC0.

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