# Genetic Diagnosis of Neurodevelopmental Disorders in India

> **NIH NIH R01** · UNIVERSITY OF MICHIGAN AT ANN ARBOR · 2020 · $458,093

## Abstract

ABSTRACT
The incidence of children with inherited neurodevelopmental disorders (NDDs) is high in LMICs, and an
enormous burden on heathcare resources. While individual inherited NDDs are rare, in aggregate they affect
millions of people. Identifying the genetic etiology of NDDs is beneficial to families, communities and science.
Genetic diagnosis allows families to recognize risk of recurrence, and act on anticipatory prognoses. Genetic
discoveries drive public health policy aimed at reducing disease burden through community genetics. Genes that
cause NDDs provide molecular insights into normal brain development and pathogenesis of disorders. Whole
exome sequencing (WES) has risen to the forefront of genetic testing in HMIC, based on its potential to uncover
the genetic basis of inherited NDDs, but is infrequently used in LMICs. An ongoing collaboration between Dr.
Shukla at Kasturba Medical College at Manipal University, India and Dr. Bielas in the Department of Human
Genetics at University of Michigan, US, has developed a sustainable strategy to use WES-based testing for
genetic diagnosis of NDDs in India. With a diagnostic yield on par with HMIC, WES-based genetic testing will be
an important tool in address the elevated burden of inherited NDD in India. We propose experiments to delineate
genetic diversity of South-East Asian ancestry. For two genes we identified as novel genetic etiologies of NDDs,
the same pathogenic variant was detected in unrelated affected Indian families, indicative of a founder effect
with higher carrier frequency in the Indian population. This finding highlights the uneven representation of diverse
populations in genomic studies. The lack of parity in sequence representation and functional studies originating
from India, is a scientific and health challenge that negatively impact interpretation of genetic variants. We
hypothesize that disparities in representation of diverse populations in genomic sequencing studies impact
interpretation of deleterious alleles and genetic diagnosis of NDDs in India, which contribute to inequity in
genomic medicine globally. We will address this challenge by defining genetic diversity in a larger cohort of
South-East Asian ancestry (Aim1), functionally characterizing variants to support their classification as
pathogenic (Aim 2) and reduce uneven representation of diverse populations in genomic medicine by developing
a searchable web-based platform to make de-identified genetic diversity identified in Indian ancestry publically
available (Aim 3). Our experimental strategy prioritizes educational exchange and research infrastructure, that
fosters sustainable strategies to tackle these important problems.

## Key facts

- **NIH application ID:** 9781756
- **Project number:** 5R01HD093570-02
- **Recipient organization:** UNIVERSITY OF MICHIGAN AT ANN ARBOR
- **Principal Investigator:** Stephanie Lee Bielas
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $458,093
- **Award type:** 5
- **Project period:** 2018-09-10 → 2024-02-29

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9781756

## Citation

> US National Institutes of Health, RePORTER application 9781756, Genetic Diagnosis of Neurodevelopmental Disorders in India (5R01HD093570-02). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/9781756. Licensed CC0.

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