Genetic Diagnosis of Heritable Neurodevelopmental Disorders with Exome Sequencing

University Of Michigan At Ann Arbor, Ann Arbor MI

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Abstract

? DESCRIPTION (provided by applicant): The incidence of children with inherited neurodevelopmental disorders (NDD) is high in low- and middle- income countries (LMIC) and becoming an enormous burden on heath care resources. While individual inherited NDD are rare, in aggregate they affect millions of people. Whole exome sequencing (WES) has risen to the forefront of genetic testing in High and Middle Income Countries (HMIC) based on its potential to uncover genetic causes for inherited NDD conditions, while circumventing bottlenecks caused by candidate gene screening approaches. Dr. Girisha at Kasturba Medical College at Manipal University, India and Dr. Bielas in the Department of Human Genetics at University of Michigan Medical School, US will build an ongoing collaboration to implement WES technology in the Department of Medical Genetics at Manipal University. This collaboration will upgrade the research capacity to support the use of WES for diagnosis of known causes of NDD. We will supplement education of medical genetics professionals and facilitate the incorporation of genetic counseling into genetic diagnoses. The World Health Organization recommends incorporating genetic counseling into the continuum of medical genetics care as it is predicted to lead to a reduction in the burden of NDD. The proposed infrastructure development will lay the foundation for future applications aimed at identifying novel genetic causes of NDD, developing research capacity to functionally test novel deleterious alleles and developing best practices for clinical application of WES in India.