Rare and Genetic Disease Network
Featured
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.
Catalyst Biosciences: Developing Novel Medicines to Address Hematology Indications
Nassim Usman, PhD, President and Chief Executive Officer of Catalyst Biosciences provides an overview of his company and its focus on protease-based therapeutic candidates.
FDA Accepts Golodirsen NDA for Duchenne Muscular Dystrophy Patients Amenable to Skipping Exon 53
The Food and Drug Administration’s (FDA’s) Division of Neurology has accepted its New Drug Application (NDA) seeking accelerated approval for golodirsen (SRP-4053) and provided a regulatory action date of August 19, 2019.
Luxturna: Gene Therapy for Biallelic RPE65 Mutation-Associated Retinal Dystrophy
Ron Philip, Chief Commercial Officer of Spark Therapeutics, discusses his company’s first approved product, Luxturna — a one-time gene therapy indicated for the treatment of patients with confirmed biallelic RPE65 mutation-associated retinal dystrophy.
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.
X-linked Severe Combined Immunodeficiency Overview
Manuel Litchman, MD, President, Chief Executive Officer at Mustang Bio discusses his company’s X-linked severe combined immunodeficiency (SCID) program.
Rising to the Challenge: Developing New Medicines for Rare Disease
The process for researching and developing new medicines is notoriously time-consuming, complicated and costly – and even more so when it comes to therapies for rare diseases.
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.
Using Genomics to Better Understand Rare Diseases
Daniel MacArthur, PhD is an Institute Member at the Broad Institute of MIT and Harvard, and co-lead of the Broad’s Center for Mendelian Genomics and Rare Genomes Project.
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
Rising to the Challenge: Developing New Medicines for Rare Disease
Rare in Common Podcast
American Society of Hematology Conference Coverage
Considering Rare Diseases for Challenging Cases
Duchenne Muscular Dystrophy
Rare Disease Diagnosis: Huntington’s Disease
Rising to the Challenge: Developing New Medicines for Rare Disease
Rare in Common Podcast
American Society of Hematology Conference Coverage
Considering Rare Diseases for Challenging Cases
Duchenne Muscular Dystrophy
