# Genetics and Functional Studies of Autosomal Recessive Neurological Disorders

> **NIH NIH R01** · UNIVERSITY OF MARYLAND BALTIMORE · 2020 · $589,995

## Abstract

Project Summary
According to WHO estimates, neurological conditions account for over 6% of the global disease burden. There
are more than 600 neurological disorders and cognitive dysfunction, also referred to as intellectual disability (ID),
occupies a prominent position in this list. It is manifested by deficits in adaptive behaviors in everyday social and
practical skills, which can have a devastating effect on the lives of affected individuals and their families. Due to
its high prevalence of 2-3%,2; 3 and the lifetime cost of care per individual in the range of $1-2 million in United
Sates,4 ID presents a significant health burden and is a major challenge at the clinical level. Genetic factors are
involved in the etiology of 25-50% of ID cases. 2 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 remain
unknown. The Objective of the proposed research is to identify and characterize genes/proteins essential for
autosomal recessive ID (ARID). The rationale is that identification of causative gene variants that lead to ARID
and elucidation of the functions of normal genes will be essential for understanding brain function and developing
improved diagnostic tools and efficacious preventive and therapeutic agents for neurological disorders in general
and ID in particular. The project addresses NIH’s mission to generate basic knowledge that may be translatable
to reduce the burden of human diseases. There are 3 aims: 1) Ascertain and clinically phenotype members of
extended families segregating ARID; 2) identify new ARID genes and gene products; and 3) determine synaptic
functions of prioritized novel ARID genes, by analyzing spatiotemporal expression patterns in mouse brain,
synaptic targeting in cultured rat hippocampal neurons, effects on cell morphology and synapse abundance,
synaptic transmission and plasticity in neuronal cells by electrophysiology, live-cell imaging, and in utero
electroporation 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 therapeutics targets to slow progression, delay onset, and possibly treat some
forms of ID.

## Key facts

- **NIH application ID:** 9923765
- **Project number:** 5R01NS107428-03
- **Recipient organization:** UNIVERSITY OF MARYLAND BALTIMORE
- **Principal Investigator:** Saima Riazuddin
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $589,995
- **Award type:** 5
- **Project period:** 2018-07-01 → 2023-04-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9923765

## Citation

> US National Institutes of Health, RePORTER application 9923765, Genetics and Functional Studies of Autosomal Recessive Neurological Disorders (5R01NS107428-03). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/9923765. Licensed CC0.

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