Name of Institution:
Icahn School of Medicine at Mount Sinai, New York, New York
Project Title:
Elucidating novel genetic mechanisms underlying autosomal recessive Parkinson’s disease
Investigator:
Coro Paisán-Ruiz, PhD
Dr. Paisán-Ruiz has an academic appointment as a tenure-track Assistant Professor of Neurology, Psychiatry, as well as Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai. She received her BSc degree from the University of Navarra (Spain) and her PhD degree from the Basque Country University (Spain). She continued her post-doctoral training at the National Institutes of Health (USA) and the UCL Institute of Neurology (UK). Her current research focuses on the identification of novel disease genes underlying Parkinson’s disease, complex forms of Parkinsonism, and essential tremor (ET). Her team also examines the function of Parkinson’s Disease and Parkinsonism genes in the zebrafish nervous system and works closely with other researchers at Icahn School of Medicine at Mount Sinai in modeling disease processes in animals to enable the design of intervention strategies through validated drug targets.
Research Objectives and Relevance to Diagnosis/Treatment of PD:
The majority of Parkinson’s disease is due to unknown etiologies, yet there is growing evidence that the genetics play an important role in the pathogenesis of both familial and sporadic PD. This study hopes to identify new PD-causing genes by determining novel genetic DNA variations underlying Parkinson’s Disease in families featuring inherited PD.
Dr. Paisán-Ruiz will identify disease-associated genomic regions by performing homozygosity mapping; to elucidate novel genes causing PD, and will determine the complete genomic DNA variation in patients with Parkinson’s Disease by performing whole genome sequencing.
Breakthrough discoveries of novel disease-causing mutations are immediately effective in translation to clinical practice as they provide diagnostic and predictive gene tests for at-risk families. The identification of novel PD-causing genes will not only advance scientific knowledge but also have direct and immediate impact on patient care through diagnostic, predictive gene testing, and long-term benefit related to genetic subgroups for clinical trials.