Lecture 27: Porphyria
Manisha Balwani MD
Presentation Date:
April 30, 2026
The Porphyrias
> Rare metabolic disorders of the heme-biosynthetic pathway
> Classified either based on the primary site of the enzymatic defect or clinical presentation
Manisha Balwani, MD, MS, FACMG
Professor and Chief
Division of Medical Genetics and Genomics
Department of Genetics and Genomic Sciences
Icahn School of Medicine at Mount Sinai
manisha.balwani@mssm.edu
Disclosures for Manisha Balwani MD:
> Advisory board participation: Alnylam therapeutics, CRISPR therapeutics, Mitsubishi Tanabe, Disc Medicine, Bridge Bio, Recordati Rare Diseases.
> Member, Board of Directors, American Porphyria Expert Collaborative (APEX).
> Clinical trial support: Alnylam therapeutics, Mitsubishi-Tanabe, Disc Medicine; Portal therapeutics.
Learning Objective:
> Understand the pathophysiology of the Acute Hepatic Porphyria and the Erythropoietic Protoporphyrias.
> Understand the clinical manifestations and management of these disorders.
> Recognize the key diagnostic tests.
> Recognize the landscape of FDA approved therapies and emerging treatments in clinical development.
Institutional disclosure:
> The Icahn School of Medicine at Mount Sinai (“ISMMS”) holds issued and pending patents related to the study drug Givosiran and has licensed these patents to Alnylam.
> As part of the license to Alnylam, ISMMS will receive payments from Alnylam, including a payment when Givosiran enters Phase 3 clinical studies, as well as future payments if Givosiran becomes a marketed treatment for Acute Hepatic Porphyria.
> ISMMS, as well as the ISMMS faculty that are named inventors on the licensed patents will benefit financially.
