Manisha Balwani, MD
- ASSOCIATE PROFESSOR | Genetics and Genomic Sciences
- ASSOCIATE PROFESSOR | Medicine
Specialties:Clinical Genetics - MD, Internal Medicine
Board Certification: Internal Medicine, Clinical Genetics
MBBS, Topiwala National Medical College
Master's, University of Pittsburgh
Residency, Internal Medicine, North Shore Univ. Hosp. at Forest Hills
Fellowship, Medical Genetics, Mount Sinai Hospital
Fellowship, Biochemical Genetics, Mount Sinai Hospital
Current Research: Modifier Genes in Type I Gaucher disease
- Natural History and Treatment of Gaucher Disease
The purpose of this study is to learn about the "natural history" of Gaucher disease: how and why it progresses over time. Gaucher disease affects different people in different ways. In some, it results in severe ill health, but in others, there is only mild or even no effects...
- Survey Study of the Prevalence of Parkinson Disease in Patients and Families with Gaucher Disease
The purpose of this study is to determine rates of Parkinson's Disease in patients and family members with Gaucher Disease. 200 people are expected to take part in the study. Participation will include taking a brief family history survey in person or over the phone as well as...
- Gaucher Registry
The purpose of this study is to add information to the International Collaborative Gaucher Disease (ICGG) Gaucher Registry. The Gaucher Registry includes a Neurological Outcomes Sub-Registry, which collects additional clinical data on the neurological manifestations of G...
- A Phase 1, Single-Ascending Dose, Multiple-Ascending Dose, and Multi-Dose Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics Study of Subcutaneously Administered Aln-As1 in Patients with Acute Intermittent Porphyria (AIP)
Acute Intermittent Porphyria (AIP) is a rare genetic disease caused by a defect in an enzyme porphobilinogen deaminase (PBGD) a substance that normally helps make heme in the liver. The study is using an investigational drug ALN-AS1 to see what effect it has on people wi...
- Natural History Study of Acute Hepatic Porphyria (AHP) with Recurrent Attacks
The purpose of this study is to gather information on overall experience with Acute Hepatic Porphyria (AHP), how it affects people, and how healthcare providers manage it. Participation is expected to last 6 months for 10 people at this site and 100 in total. Participation in ...
- Premotor Signs and Symptoms of Parkinsonism in Non-Manifesting GBA Mutation Carriers
Recently, it has been shown that people with Gaucher disease (who have changes in the GBA gene) and even Gaucher carriers (who have only one change in the GBA gene and do not have Gaucher disease), are at a higher risk for Parkinson's Disease (PD). However, the vast majority o...
- Clinical and Molecular Studies of the Erythropoietic Protoporphyria Phenotype
The initial objective of this protocol is to assemble a well-documented group of patients with confirmed diagnoses of the erythropoietic protoporphyrias, including autosomal recessive Erythropoietic Protoporphyria (EPP) and X-Linked Protoporphyria (XLP) for clinical, biochemic...
Balwani M, Smukler L, Edelmann L, Kornreich R, Desnick RJ. Type 1 Gaucher Disease: Significant Disease manifestations in “asymptomatic homozygotes” . Arch. Inter. Med;.
Cantatore-Francis JL, Cohen J, Balwani M, Desnick RJ, Schaffer JV. Hepatoerythropoietic Porphyria misdiagnosed as child abuse: cutaneous and hematologic manifestations in siblings with a novel UROD mutation. Arch. Dermatol.;.
Balwani M, Fuerstman L, Desnick RJ, Buckley B, McGovern MM. Use of complimentary and alternative medicine by patients with lysosomal storage diseases. Genet. Med 2009; 11(722-727).
Hermann G, Simpson WL, Balwani M. A Gaucher-kor manifesztacioi a csontrendszerben (The manifesations of Gaucher disease in the skeletal system).. Osteologiai Kozlemenyek (Skeletal Radiology) 2008; 3(121-128).
Carreiro J, Balwani M, Grosskreutz C, Isola L, Malone A, Scigliano E, Osman K. A case report of secondary autograft failure due to Gaucher disease. Am. J. Hematol 2008; 83(937).
Grace ME, Balwani M, Nazarenko I, Prakash-Cheng A, Desnick RJ. Type I Gaucher Disease: null and hypomorphic novel chitotriosidase gene mutations- implications for diagnosis and therapeutic monitoring. . Hum. Mut. 2007; 28(28:866-873).
Sansaricq C, Pardo S, Balwani M, Grace M, Raymond K. Biochemical and molecular diagnosis of lipoamide dehydrogenase deficiency in a North American Ashkenazi Jewish family. . J. Inherit. Metabol. Dis. 2006; 29(203-204).
Anderson KE, Lee C, Balwani M, Desnick RJ. Porphyrias. In: Nelson Textbook of Pediatrics, Behrman, R.E., Kleigman, R.M. and Jenson, H.B., Eds., . W.B. Saunders Company, Philadelphia;(19).
Balwani M, Prakash-Cheng A, Desnick RJ. Encyclopedia of Molecular Mechanisms of Disease, F. Lange, Ed., . Springer-Verlag GmbH Heidelberg, Germany, pp 2009;(691-692).
Sansaricq C, Balwani M. Essential Pediatric Endocrinology and Inborn Errors of Metabolism. Kyriakie Sarafoglou, McGraw Hill 2008;.