Patricia Greenstein, MBBCh
Beth Israel Deaconess Medical Center
Dr. Patricia Greensteinās areas of expertise clinically and scientifically is the integration of basic science into clinical neurogenetics. With advances in genomic medicine, there are emerging opportunities to diagnose rare diseases that patients have struggled with for a long period of time. She and her team have built up a fascinating clinic with regional referrals from the New England area to assist in the diagnosis of unknown diseases and to try to advance our knowledge about new phenotypic expressions of rare diseases. Dr. Greenstein has collaborations with faculty at Childrenās Hospital correlating the neurological phenotypes of galactosemia and phenylketonuria adults trying to understand the brain substrates using MRI Spectroscopy and MR tractography. She intends to expand this to the cerebellar ataxias, with research focused on understanding the mechanisms by which patients have this specific gait disorder. Dr. Greenstein is the site PI for clinical trials for autosomal dominant spinocerebellar degenerations. In addition, she has collaborations with other investigators, including Dr. Veronique Vanderhorst, looking at more subtle phenotypic biomarkers in patients with ataxia. Dr. Greenstein is also planning to integrate this work with imaging approaches, including MRI resting state connectivity or tractography.