Rare and Genetic Disease Network


Rare Disease Day: Spotlight on Rare Disorders and the Need for Clinical Trials

February 28 is the 12th Annual Rare Disease Day, the theme of which this year is “bridging health and social care”. This day brings together the rare disease community and  highlights the need for better coordination of medical, social, and support services to lessen the burden that rare diseases have on the daily  lives of patients, their families, and caregivers.

Acute Hepatic Porphyria: Overview and Emerging Therapies

Pushkal Garg, MD, Chief Medical Officer at Alnylam discusses Acute Hepatic Porphyria (AHPs) and givosiran, an investigational, subcutaneously administered RNAi therapeutic targeting aminolevulinic acid synthase 1 (ALAS1) in development for the treatment of AHP.

Management of Hematologic Diseases With Cellular and Immunotherapies

Mohamad Mohty, MD, discusses the management of hematologic diseases with cellular and immune therapies such as Chimeric antigen receptor (CAR) T cells, which have recently emerged as a novel therapeutic approach, yielding complete responses even in heavily pretreated patients with leukemia, lymphoma, and myeloma.

FDA Approves Cablivi for Acquired Thrombotic Thrombocytopenic Purpura

The U.S. Food and Drug Administration (FDA) approved Cablivi (caplacizumab-yhdp) injection, the first therapy specifically indicated, in combination with plasma exchange and immunosuppressive therapy, for the treatment of adult patients with acquired thrombotic thrombocytopenic purpura (aTTP), a rare and life-threatening disorder that causes blood clotting.

Hereditary ATTR Amyloidosis Overview

Pushkal Garg, MD, Chief Medical Officer at Alnylam discusses hereditary ATTR (hATTR) amyloidosis, a rare condition that affects an estimated 50,000 people worldwide.

Atypical Hemolytic Uremic Syndrome

Atypical hemolytic uremic syndrome (aHUS) is a disease that causes abnormal blood clots to form in small blood vessels in the kidneys.

Special Reports