Manisha Balwani, MD, MS

Dr. Manisha Balwani is a Professor in the Department of Genetics and Genomic Sciences and the Department of Medicine at the Icahn School of Medicine at Mount Sinai, and Chief of the Division of Medical Genetics and Genomics. Her clinical interests include lysosomal storage diseases and the porphyrias. She directs the Lysosomal Disease Program and the Comprehensive Porphyria Diagnostic and Treatment Center, which she established in 2007, and is a faculty member of the Icahn Genomics Institute.

Dr. Balwani completed her medical training at the University of Bombay and earned a Master's degree in Genetics at the University of Pittsburgh. She then completed residency training in Internal Medicine, followed by fellowship training in Medical Genetics and Clinical Biochemical Genetics. She joined the faculty of the Department of Genetics at the Icahn School of Medicine in 2006.

Her early research focused on the natural history and genotype-phenotype correlations of Gaucher disease, and she served as principal investigator on therapeutic clinical trials for new therapies for Gaucher disease and lysosomal acid lipase deficiency. She was awarded an NIH K23 Mentored Patient-Oriented Career Development Award (2013-2018) for clinical and molecular studies of the erythropoietic protoporphyria phenotype, and subsequently led the acute and cutaneous porphyrias research program as multiple principal investigator of the NIH-supported Rare Diseases Clinical Research Network's Porphyrias Consortium (2019-2025). She currently serves as MPI on two active NIH grants: an NCATS-funded program using electronic medical records and genomic technologies to shorten diagnostic odysseys for rare genetic diseases, and the NINDS-funded Mount Sinai Center for Undiagnosed Diseases, part of the national Undiagnosed Diseases Network. As an experienced physician-scientist, she has served as principal investigator on both investigator-initiated and industry-sponsored studies and clinical trials.

Dr. Balwani has received multiple honors for clinical excellence and patient-centered care. She has been named a Castle Connolly Top Doctor since 2015, a Super Doctors NY honoree since 2022, and a NY Magazine Best Doctor in 2017 and since 2019. She received the Mount Sinai Cullman Family Award for Excellence in Provider Communication in 2020 and 2023, an award recognizing providers who rank in the top 5% nationally for provider communication on Press Ganey patient experience surveys. She also received the Genetic Disease Foundation Clinical Excellence Award in 2009.