Manisha Balwani

Medical Genetics / Clinical Genetics (M.D.) · Icahn School of Medicine at Mount Sinai

Credentials: · · · ·

History

Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria
New England Journal of Medicine · 2020 · First of 35 authors · 459 citations
Afamelanotide for Erythropoietic Protoporphyria
New England Journal of Medicine · 2015 · Co-first of 26 authors · 211 citations
Phase 1 Trial of an RNA Interference Therapy for Acute Intermittent Porphyria
New England Journal of Medicine · 2019 · 208 citations

Mount Sinai Center for Undiagnosed Diseases
National Institute of Neurological Disorders and Stroke · U01
PI · $2.4M · Icahn School of Medicine at Mount Sinai
2024–2028
Using Electronic Medical Record Data to Shorten Diagnostic Odysseys for Rare Genetic Disorders in Children and Adults in Two New York City Health Care Settings
National Center for Advancing Translational Sciences · UH3
PI · $1.4M · Icahn School of Medicine at Mount Sinai
2024–2027
Porphyrias Consortium
National Institute of Diabetes and Digestive and Kidney Diseases · U54
PI · $5.6M · Icahn School of Medicine at Mount Sinai
2009–2025
Using Electronic Medical Record Data to Shorten Diagnostic Odysseys for Rare Genetic Disorders in Children and Adults in Two New York City Health Care Settings
National Center for Advancing Translational Sciences · UG3
PI · $676K · Icahn School of Medicine at Mount Sinai
2022–2024

Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact
Principal investigator · Completed
Icahn School of Medicine at Mount Sinai
2012–2019
Oral Iron for Erythropoietic Protoporphyrias
Study chair · Completed
Icahn School of Medicine at Mount Sinai
2016–2019
Longitudinal Study of the Porphyrias
Site PI · Recruiting
The American Porphyrias Expert Collaborative
2010–2030
Expanded Access Program of Bitopertin For Participants With EPP or XLP
Site PI · Available
Disc Medicine, Inc