Studies Of Hereditary Neurological Disease: Disease Gene Identification

National Institute Of Neurological Disorders And Stroke

Investigators

Linked publications & trials

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, over 120 families have been evaluated, with more than 20 different genetic diagnoses in 24 families. Our current focus is on the remaining families with phenotypes of interest, autosomal recessive inheritance & consanguinity. Exome sequencing and segregation analysis are done through NISC for candidate gene identification. In the past year, we collaborated in studies of amyotrophic lateral sclerosis type 8, degenerative encephalopathy with skelatal dysplasia caused by mutation in CSF1R, hereditary spastic paraplegia type 35, spinal and bulbar muscular atrophy (Kennedy disease), and X-linked Charcot-Marie-Tooth disease.