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Manisha Balwani, MD, MS

img_Manisha Balwani
PROFESSOR | Genetics and Genomic Sciences
PROFESSOR | Medicine, General Internal Medicine
212-241-0915
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Specialties
Genetics and Genomics
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

MD, 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, Mount Sinai Hospital

Fellowship, Medical Biochemical Genetics, Mount Sinai Hospital

Certifications

American Board of Medical Genetics & Genomics

2012

NIH K23 Mentored Patient-Oriented Career Development Award

2009

Genetic Disease Foundation “Clinical Excellence Award”

2006

NORD/Roscoe Brady Lysosomal Diseases Fellowship Award

126
Publications

Selected Publications

Ensilication preserves high-molecular weight native DNA for clinical long-read sequencing. Alexis Ferrasse, Rodrigo Mendez, John E. Gorzynski, Chloe Reuter, Jennefer N. Carter, Michael Blas, Yong Hui Jiang, Winston Halstead, Vasilis Vasiliou, Teodoro Jerves Serrano, Shrikant Mane, Odelya Kaufman, Nada Derar, Monkol Lek, Michele Spencer-Manzon, Mark Gerstein, María José Ortuño Romero, Lauren Jeffries, Hui Zhang, Hua Xu, Emily Wang, Caroline Hendry, Carol Oladele, Allen Bale, Timothy Schedl, Stephen C. Pak, Lilianna Solnica-Krezel, Jimann Shin, Dustin Baldridge, F. Sessions Cole, Patricia Dickson, Kathy Sisco, Jennifer Wambach, Erin McRoy, Daniel Wegner, Dana Kiley, Alex Paul, Thomas Cassini, Mary Koziura, Lisa Bastarache, Lakshitha Perera, Joy D. Cogan, Eric Gamazon, Cathy Shyr, Saskia Shuman, Manisha Balwani, Mafalda Barbosa, Joanna Jen, Charlotte Cunningham-Rundles, Bruce Gelb. Genome Biology

Age-Specific Parkinson Disease Risk in Gaucher Disease Type 1: Data From the ICGG Gaucher Registry. Roy N. Alcalay, Pramod Mistry, Alessio Di Fonzo, Julie L. Batista, Pablo Bianculli, Jenny L. Carwile, Maria G. Perichon, Manisha Balwani. Neurology

Guidelines for the management of acute porphyria: recommendations from the International Porphyria Network. Yonatan Edel, Penelope E. Stein, Hassan Kawtharany, Aasne K. Aarsand, Michael Badminton, Manisha C. Balwani, Herbert L. Bonkovsky, Maria Domenica Cappellini, David Cassiman, Jean Charles Deybach, Liz Gill, Pauline Harper, Richard Hift, Raili Kauppinen, Aneta Ivanova, Janneke Langendonk, Matteo Marcacci, Anna Elizabeth Minder, Hetanshi Naik, Elena Pischik, Petro E. Petrides, David Rees, Bruce Richie, Eliane Sardh, Caroline Schmitt, Danja Schulenburg-Brand, Mark Sonderup, Ulrich Stölzel, Jordi To-Figueras, Paolo Ventura, Nils Wohmann, Reem Mustafa, Sverre Sandberg. The Lancet Haematology

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Genetics Infusion Suite at Mount Sinai

Atran Berg Laboratory Building Floor 1st Floor, Room AB1-50

1428 Madison Ave

New York, NY 10029

212-241-0915

Physicians and scientists on the faculty of the Icahn School of Medicine at Mount Sinai often interact with pharmaceutical, device, biotechnology companies, and other outside entities 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 outside financial relationships.

Below are financial relationships with industry reported by Dr. Balwani during 2025 and/or 2026. Please note that this information may differ from information posted on corporate sites due to timing or classification differences.

Board Service

  • American Porphyria Expert Collaborative

Consulting or Other Professional Services Examples include, but are not limited to, committee participation, data safety monitoring board (DSMB) membership

  • Disc Medicine, Inc.
  • Sanofi Genzyme
  • Alexion Pharmaceuticals
  • Medison pharma
  • CRISPR therapeutics
  • Novartis Pharmaceutical Corporation
  • Alnylam Pharma
  • Recordati Rare Diseases

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.