Hemali Phatnani, PhD

Hemali Phatnani, PhD, is a member of the Eleanor and Lou Gehrig ALS Center, a CTNI Scholar in the Columbia Translational Neuroscience Initiative (CTNI), and a member of the Center for Motor Neuron Biology and Disease at the Vagelos College of Physicians & Surgeons of Columbia University. Dr. Phatnani is jointly appointed as Assistant Professor of Neurological Sciences in the Department of Neurology, in the Division of Neuromuscular Medicine, and at the New York Genome Center, where she directs the Center for Genomics of Neurodegenerative Disease. Her research program spans both institutions and has three main goals: 1) To serve as the hub of collaborative interactions between clinicians, computational biologists, and basic scientists; 2) To build and disseminate tools and resources for the neurodegenerative disease research community; and 3) To understand the role of intercellular interactions in neurodegenerative disease.

The overarching goal of her research program is to understand the etiology of neurodegenerative diseases – what are the genetic mutations that cause disease and how do they lead to specific neurodegenerative disorders? Her group takes a multidisciplinary approach to this question and integrates antemortem and postmortem phenotyping data with multimodal genomics approaches that span multiple scales, from the single-cell to tissue-level. The goal is to understand the molecular phenotypes associated with dysfunction in diverse cell types within tissues, and how these molecular signatures change over the course of aging and disease. Her team has experience applying these approaches to many diseases, including ALS-FTD. The multidimensional datasets that they generate have enabled them to determine cell- and region-specific molecular correlates of functional impairment in ALS-FTD. Moreover, these datasets may provide a platform for other investigators to unveil markers specific to their disease of study. Her group facilitates this by sharing their platform and data with the broad scientific community.