Studies Of Hereditary Neurological Disease: Disease Gene Identification

National Institute Of Neurological Disorders And Stroke

Investigators

Linked publications, trials & patents

Abstract

The purpose of this research program is to investigate the causes of hereditary neurological diseases, with the goal of developing effective treatments for these disorders. A genetic outreach program allows the identification and characterization of patients and families with hereditary neurological diseases. Specific research accomplishments in the past year include collaboration in genetic studies in Mali and in a review of procedures for reporting of secondary genomic findings from exome sequencing. Through the Mali collaboration, 119 families have been evaluated, with 17 different genetic diagnoses in 24 families. Our current focus is on 60 remaining families with phenotypes of interest, autosomal recessive inheritance & consanguinity. Exome sequencing and segregation analysis are done through NISC for candidate gene identification. Human genome and exome sequencing are powerful research tools that can generate secondary findings beyond the scope of the research. Most secondary genomic findings are of low importance, but some confer high risk of a serious disease that could be mitigated by timely medical intervention. As part of an intramural NIH working group, we presented a proposal for the formation of a secondary-genomic-findings service that would support researchers by enabling the return of clinically actionable sequencing results to research participants in a standardized manner.