Investigator:
Andrew Sharp, PhD
Name of Institution:
Icahn School of Medicine at Mount Sinai, New York, NY
Project Title:
Identifying novel repeat expansions as a cause of Parkinson’s disease
Investigator Bio:
Andrew Sharp is Associate Professor of Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai, New York. His laboratory analyzes DNA sequencing, gene expression, and genome regulatory information using a variety of novel approaches. By studying changes in the human genome, his work seeks to understand how genetic differences in the population predispose certain people to disease. Much of his work focuses on complex regions of the genome that are often ignored in many other studies. He has received multiple awards from both the European and American Societies of Human Genetics for his work.
Objective:
To identify tandem repeat expansions (strings of short repeating sections of DNA) that cause Parkinson’s disease (PD) using DNA sequencing data from >2,000 patients with PD and ~30,000 thousand controls.
Background:
Expansions of tandem repeats are known to underlie more than 30 different human neurological diseases. The vast majority of tandem repeat expansions are observed in late-onset neurodegenerative disorders such as Huntington’s disease and hereditary ataxias, which can show considerable clinical similarities with PD. However, there have been no concerted efforts to study the prevalence of tandem repeat expansions as a genetic cause of PD.
Methods/Design:
We will use newly developed analysis approaches to look for tandem repeat expansions in genome sequencing data from thousands of individuals with PD and controls.
Relevance to Diagnosis/Treatment of Parkinson’s disease:
We anticipate that this work will lead to the identification of novel genetic causes of PD. This will improve understanding of the genetic risk factors which cause PD, improve diagnoses and allow genetic counseling, and also provide a basis for the future development of therapies for individuals with PD that are caused by tandem repeat expansions.