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An study to determine the changes in genes leading to abnormalities of nervous system in India.

Not Applicable
Registration Number
CTRI/2018/10/016063
Lead Sponsor
ational Institutes of Health
Brief Summary

Not available

Detailed Description

Not available

Recruitment & Eligibility

Status
ot Yet Recruiting
Sex
Not specified
Target Recruitment
0
Inclusion Criteria

Inclusion criteria includes subjects with neurodevelopment disorders. The study will not discriminate on the basis of race, sex, or religion. We anticipate males and females will be enrolled in roughly equal numbers.

Exclusion Criteria

Subjects with a recognizable genetic syndrome or with an evidence of a non-genetic factor contributing to NDD would be excluded from the study.

Study & Design

Study Type
Observational
Study Design
Not specified
Primary Outcome Measures
NameTimeMethod
This proposal would result in identifying genetic etiology for a spectrum of neurodevelopmental disorders by the application of CMA and WES technologies. Genetic diagnoses can lead to therapeutic interventions that improve the quality of life and provide options for carrier and prenatal testing with power to reduce the disease burden.Timepoint: 5 years
Secondary Outcome Measures
NameTimeMethod
The international educational exchange will develop experienced personnel for this project, and shape national standards for genetic testing, management of genomic information in India.Finally, our resource investment in a populations-specific database and sample biorepository are the foundation for future studies to uncover novel genetic mechanisms of NDDs â?? both within and outside the exome and explore their impact on normal brain development and pathophysiology.Timepoint: 5 years
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