Manisha Balwani, MD, MS
- PROFESSOR | Genetics and Genomic Sciences
- PROFESSOR | Medicine, General Internal Medicine
Specialty:
Genetics and GenomicsDr. Manisha Balwani is a Professor in the Department of Genetics and Genomic Sciences and 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 is the Director of the Lysosomal Disease Program and a faculty member of the Icahn Genomics Institute.
Dr. Balwani completed her medical training at the University of Bombay, followed by a Master’s in Genetics at the University of Pittsburgh. She completed her training in Internal Medicine followed by a fellowship 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 initial research efforts were focused on the natural history and genotype-phenotype correlations of Gaucher disease. She served as Principal Investigator for therapeutic clinical trials for new therapies for Gaucher disease and Lysosomal Acid Lipase deficiency. Her recent research efforts have been focused on the acute and cutaneous porphyrias. She is an investigator for the NIH supported Rare Diseases Clinical Research Network’s Porphyrias Consortium.
As an experienced physician scientist, she has been the PI of investigator-initiated and industry sponsored studies and clinical trials.
Certifications
Clinical Genetics
Clinical Focus
Education
MBBS, Topiwala National Medical College
Master of Science, University of Pittsburgh - Graduate School of Public Health
Residency, Internal Medicine, Long Island Jewish Forest Hills
Fellowship, Medical Genetics, The Mount Sinai Hospital
Fellowship, Biochemical Genetics, The Mount Sinai Hospital
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2012
NIH K23 Mentored Patient-Oriented Career Development Award -
2009
Genetic Disease Foundation “Clinical Excellence Award” -
2006
NORD/Roscoe Brady Lysosomal Diseases Fellowship Award
A Multicenter, Open-label Extension Study to Evaluate the Long-term Safety and Clinical Activity of Subcutaneously Administered ALN-AS1 in Patients with Acute Intermittent Porphyria who have Completed a Previous Clinical Study with ALN-AS1
Rare Disease Registries/ Natural History Studies
All patients seen in the LSD and Porphyria Programs are welcome to participate in several industry-sponsored Registries. These are multi-center, international, observational programs that track the natural history and outcomes of patients with rare diseases including Gaucher, Fabry, MPS, Pompe disease, and Acute Hepatic Porphyria.
Effect of Oral Iron Therapy on Erythrocyte Protoporphyrin Levels in the Erythropoietic Protoporphyrias
ALN-AS1-NT-001 Natural History Study of Acute Hepatic Porphyria (AHP) Patients with Recurrent Attacks
Premotor Signs and Symptoms of Parkinsonism in Non-Manifesting GBA Mutation Carriers
This study is actively recruiting Gaucher disease carriers or likely carriers over the age of 45 years to participate in a one-visit study. The aim of the study is to determine if a certain set of neurological tests are useful at picking up very early signs of Parkinson disease, and thus could lead to earlier diagnosis of patients. The study includes a number of tests such as questionnaires, cognitive tests, and tests examining smell and color discrimination. This study is sponsored by the NIH and Parkinson Disease Foundation and is a collaboration with Columbia Medical Center.
A Phase 3 Randomized, Double-blind, Placebo-controlled Multicenter Study with an Open-label Extension to Evaluate the Efficacy and Safety of Givosiran in Patients with Acute Hepatic Porphyrias
A Phase II, Multicenter, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate Efficacy, Safety, and Tolerability of MT 7117 in Subjects with Erythropoietic Protoporphyria
Physicians and scientists on the faculty of the Icahn School of Medicine at Mount Sinai often interact with pharmaceutical, device and biotechnology companies to improve patient care, develop new therapies and achieve scientific breakthroughs. In order to promote an ethical and transparent environment for conducting research, providing clinical care and teaching, Mount Sinai requires that salaried faculty inform the School of their relationships with such companies.
Below are financial relationships with industry reported by Dr. Balwani during 2022 and/or 2023. Please note that this information may differ from information posted on corporate sites due to timing or classification differences.
Industry-Sponsored Lectures: MSSM faculty occasionally give lectures at events sponsored by industry, but only if the events are free of any marketing purpose.
- Genzyme Corporation
Other Activities: Examples include, but are not limited to, committee participation, data safety monitoring board (DSMB) membership.
- SioGene
Mount Sinai's faculty policies relating to faculty collaboration with industry are posted on our website. Patients may wish to ask their physician about the activities they perform for companies.
Physicians who provide services at hospitals and facilities in the Mount Sinai Health System might not participate in the same health plans as those Mount Sinai hospitals and facilities (even if the physicians are employed or contracted by those hospitals or facilities).
Information regarding insurance participation and billing by this physician may be found on this page, and can also be obtained by contacting this provider directly. Because physicians insurance participation can change, the insurance information on this page may not always be up-to-date. Please contact this physician directly to obtain the most up-to-date insurance information.
Insurance and health plan networks that the various Mount Sinai Health System hospitals and facilities participate in can be found on the Mount Sinai Health System website.