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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
Genomic Health / Genetics and Genomics
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
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

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

122
Publications

Selected Publications

Biallelic LAMP3 variants in 5 families with interstitial lung disease: Evidence of a disease-gene association. Laura A. Keehan, Hitomi Ono-Minagi, Mohamad Hadhud, Jonathan Rips, Daniel M. Hinds, Anthony J. Fischer, Jennifer A. Bartlett, Paul B. McCray, Nada Qawasmi, Nadia Nathan, Camille Louvrier, Tifenn Desroziers, Markus Damme, Matthias Griese, Daniel J. Wegner, F. Sessions Cole, Jennifer A. Wambach, Matthew T. Wheeler, Peter D. Burbelo, Devon E. Bonner, Alyssa A. Tran, Arjun Tarakad, Ashok Balasubramanyam, Brendan H. Lee, Carlos A. Bacino, Daryl A. Scott, Elaine Seto, Gary D. Clark, Hongzheng Dai, Hsiao Tuan Chao, Ivan Chinn, James P. Orengo, Jennifer E. Posey, Jill A. Rosenfeld, Kim Worley, Lindsay C. Burrage, Lisa T. Emrick, Lorraine Potocki, Monika Weisz Hubshman, Richard A. Lewis, Ronit Marom, Seema R. Lalani, Shamika Ketkar, Tiphanie P. Vogel, William J. Craigen, Jared Sninsky, Lauren Blieden, Sandesh Nagamani, Hugo J. Bellen, Michael F. Wangler, Oguz Kanca, Shinya Yamamoto, Christine M. Eng, Patricia A. Ward, Pengfei Liu, Adeline Vanderver, Cara Skraban, Edward Behrens, Gonench Kilich, Kathleen Sullivan, Kelly Hassey, Ramakrishnan Rajagopalan, Rebecca Ganetzky, Vishnu Cuddapah, Anna Raper, Daniel J. Rader, Giorgio Sirugo, Vaidehi Jobanputra, Allyn McConkie-Rosell, Kelly Schoch, Mohamad Mikati, Nicole M. Walley, Rebecca C. Spillmann, Vandana Shashi, Alan H. Beggs, Calum A. MacRae, David A. Sweetser, Deepak A. Rao, Edwin K. Silverman, Elizabeth L. Fieg, Frances High, Gerard T. Berry, Ingrid A. Holm, J. Carl Pallais, Joan M. Stoler, Joseph Loscalzo, Lance H. Rodan, Laurel A. Cobban, Lauren C. Briere, Matthew Coggins, Melissa Walker, Richard L. Maas, Susan Korrick, Jessica Douglas, Cecilia Esteves, Emily Glanton, Isaac S. Kohane, Kimberly LeBlanc, Rachel Mahoney, Shamil R. Sunyaev, Shilpa N. Kobren, Brett H. Graham, Erin Conboy, Francesco Vetrini, Kayla M. Treat, Khurram Liaqat, Lili Mantcheva, Stephanie M. Ware, Breanna Mitchell, Brendan C. Lanpher, Devin Oglesbee, Eric Klee, Filippo Pinto e Vairo, Ian R. Lanza, Kahlen Darr, Lindsay Mulvihill, Lisa Schimmenti, Queenie Tan, Surendra Dasari, Abdul Elkadri, Brett Bordini, Donald Basel, James Verbsky, Julie McCarrier, Michael Muriello, Michael Zimmermann, Adriana Rebelo, Carson A. Smith, Deborah Barbouth, Guney Bademci, Joanna M. Gonzalez, Kumarie Latchman, LéShon Peart, Mustafa Tekin, Nicholas Borja, Stephan Zuchner, Stephanie Bivona, Willa Thorson, Herman Taylor, Rakale C. Quarells, Ayuko Iverson, Bruce Gelb, Charlotte Cunningham-Rundles, Eric Gayle, Joanna Jen, Louise Bier, Mafalda Barbosa, Manisha Balwani, Mariya Shadrina, Rachel Evard, Saskia Shuman, Susan Shin, Andrea Gropman, Barbara N. Pusey Swerdzewski, Camilo Toro, Colleen E. Wahl, Donna Novacic, Ellen F. Macnamara, John J. Mulvihill, Maria T. Acosta, Precilla D'Souza, Valerie V. Maduro, Ben Afzali, Ben Solomon, Cynthia J. Tifft, David R. Adams, Elizabeth A. Burke, Francis Rossignol, Heidi Wood, Jiayu Fu, Joie Davis, Leoyklang Petcharet, Lynne A. Wolfe, Margaret Delgado, Marie Morimoto, Marla Sabaii, May Christine V. Malicdan, Neil Hanchard, Orpa Jean-Marie, Wendy Introne, William A. Gahl, Yan Huang, Andrew Stergachis, Danny Miller, Elisabeth Rosenthal, Elizabeth Blue, Elsa Balton, Emily Shelkowitz, Eric Allenspach, Fuki M. Hisama, Gail P. Jarvik, Ghayda Mirzaa, Ian Glass, Kathleen A. Leppig, Katrina Dipple, Mark Wener, Martha Horike-Pyne, Michael Bamshad, Peter Byers, Runjun Kumar, Seth Perlman, Sirisak Chanprasert, Virginia Sybert, Wendy Raskind, Nitsuh K. Dargie, Chun Hung Chan, Dr Francisco Bustos Velasq, Isum Ward, Jason Schend, Jennifer Morgan, Megan Bell, Miranda Leitheiser, Mohamad Saifeddine, Paul Berger, Rachel Li, Taylor Beagle, Alexander Miller, Beatriz Anguiano, Beth A. Martin, Brianna Tucker, Chloe M. Reuter, Devon Bonner, Elijah Kravets, Hector Rodrigo Mendez, Holly K. Tabor, Jacinda B. Sampson, Jason Hom, Jennefer N. Kohler, Jennifer Schymick, John E. Gorzynski, Jonathan A. Bernstein, Kevin S. Smith, Laura Keehan, Laurens Wiel, Matthew T. Wheeler, Meghan C. Halley, Mia Levanto, Page C. Goddard, Paul G. Fisher, Rachel A. Ungar, Raquel L. Alvarez, Sara Emami, Shruti Marwaha, Stephen B. Montgomery, Suha Bachir, Tanner D. Jensen, Taylor Maurer, Terra R. Coakley, Euan A. Ashley, Ali Al-Beshri, Anna Hurst, Brandon M. Wilk, Bruce Korf, Elizabeth A. Worthey, Kaitlin Callaway, Martin Rodriguez, Tammi Skelton, Tarun K.K. Mamidi, Andrew B. Crouse, Jordan Whitlock, Mariko Nakano-Okuno, Matthew Might, William E. Byrd, Albert R. La Spada, Changrui Xiao, Elizabeth C. Chao, Eric Vilain, Jose Abdenur, Kirsten Blanco, Maija Rikka Steenari, Rebekah Barrick, Richard Chang, Sanaz Attaripour, Suzanne Sandmeyer, Tahseen Mozaffar, Alden Huang, Andres Vargas, Bianca E. Russell, Brent L. Fogel, Esteban C. Dell'Angelica, George Carvalho, Julian A. Martínez-Agosto, Layal F. Abi Farraj, Manish J. Butte, Martin G. Martin, Naghmeh Dorrani, Neil H. Parker, Rosario I. Corona, Stanley F. Nelson, Yigit Karasozen, Aaron Quinlan, Alistair Ward, Ashley Andrews, Corrine K. Welt, Dave Viskochil, Erin E. Baldwin, John Carey, Justin Alvey, Laura Pace, Lorenzo Botto, Nicola Longo, Paolo Moretti, Rebecca Overbury, Russell Butterfield, Steven Boyden, Thomas J. Nicholas, Matt Velinder, Gabor Marth, Pinar Bayrak-Toydemir, Rong Mao, Monte Westerfield, Brian Corner, John A. Phillips, Kimberly Ezell, Lynette Rives, Rizwan Hamid, Serena Neumann, Ashley McMinn, Joy D. Cogan, Thomas Cassini, Alex Paul, Dana Kiley, Daniel Wegner, Erin McRoy, Jennifer Wambach, Kathy Sisco, Patricia Dickson, F. Sessions Cole, Dustin Baldridge, Jimann Shin, Lilianna Solnica-Krezel, Stephen C. Pak, Timothy Schedl, Allen Bale, Carol Oladele, Caroline Hendry, Emily Wang, Hua Xu, Hui Zhang, Lauren Jeffries, María José Ortuño Romero, Mark Gerstein, Michele Spencer-Manzon, Monkol Lek, Nada Derar, Odelya Kaufman, Shrikant Mane, Teodoro Jerves Serrano, Vasilis Vasiliou, Winston Halstead, Yong Hui Jiang, Jonathan A. Bernstein, John A. Chiorini, Oded Breuer, Carlos Milla. Genetics in Medicine

DNASE1L3 Deficiency With Novel Missense Variant: Enzymatic and Plasma Fragmentomic Evidence of Pathogenicity and Partial Response to JAK Blockade. Annel Andrea Leon Tenorio, Takeshi Sugio, Jordan Cheng, Devon E. Bonner, Mohammad Shahrokh Esfahani, Sivakanthan Kasinathan, Joyce J. Hsu, Amanda Moyer, Luisa Pimentel Vera, Jennefer Carter, Chloe M. Reuter, Shruti Marwaha, Imelda Balboni, Alyssa A. Tran, Arjun Tarakad, Ashok Balasubramanyam, Brendan H. Lee, Carlos A. Bacino, Daryl A. Scott, Elaine Seto, Gary D. Clark, Hongzheng Dai, Hsiao Tuan Chao, Ivan Chinn, James P. Orengo, Jill A. Rosenfeld, Kim Worley, Lindsay C. Burrage, Lisa T. Emrick, Lorraine Potocki, Monika Weisz Hubshman, Richard A. Lewis, Ronit Marom, Seema R. Lalani, Shamika Ketkar, Tiphanie P. Vogel, William J. Craigen, Jared Sninsky, Lauren Blieden, Sandesh Nagamani, Hugo J. Bellen, Michael F. Wangler, Oguz Kanca, Shinya Yamamoto, Christine M. Eng, Bruce Gelb, Charlotte Cunningham-Rundles, Mafalda Barbosa, Manisha Balwani, Saskia Shuman. ACR Open Rheumatology

Complementary and alternative medicines and cannabis use among individuals with erythropoietic protoporphyria. Emma Draisin, Chloe Paige Rome, Karli Hedstrom, Jessica Overbey, Manisha Balwani, Hetanshi Naik. Molecular Genetics and Metabolism

View All Publications

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
  • Editas Medicine, Inc

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.