Ricardo Mouro Pinto
Center for Genomic Medicine, Massachusetts General Hospital
Instructor in Neurology, Harvard Medical School
Associated Scientist, Program in Medical and Population Genetics, Broad Institute at MIT and Harvard
Our research group has a strong interest in rare neurodegenerative genetic disorders, particularly those caused by unstable microsatellite repeats, such as Huntington’s disease (HD) and Friedreich ataxia (FA). A major focus of our research has been the characterization of the mechanisms responsible for repeat instability, in the context of such diseases, as potential therapeutic targets.
We focus on rare neurodegenerative genetic disorders, particularly those caused by unstable microsatellite repeats and somatic instability, including Huntington’s disease and Friedreich Ataxia.
Our research aims to better understand the underlying molecular mechanisms involved in somatic instability of microsatellite repeats in DNA repeat expansion disorders. We are particularly interested in identifying genetic modifiers of disease as potential therapeutic targets.
Mouse models are frequently utilized in our research to study the effects of somatic instability on disease. These models are also used to study genetic modifiers of disease and test promising therapeutics.
Some of our research utilizes CRISPR and AAV-mediated gene therapy to target microsatellite repeats, somatic instability, and other genetic modifiers of disease.