ChallengesExperts share their insights in diagnosing and managing rare conditions
- 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.
- 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.
- FDA Approves Imbruvica-Gazyva Combo for Treatment-Naive Chronic Lymphocytic Leukemia
The FDA approved ibrutinib for use in combination with obinutuzumab for treatment-naive patients with chronic lymphocytic leukemia (CLL) or small lymphocytic lymphoma. This is the first nonchemotherapy regimen indicated for this patient population.
- Living with Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders, affecting approximately 1 in 2,500 people in the United States. The disease is named for the three physicians who first identified it in 1886 – Jean-Martin Ch …
- FDA Approves Cabozantinib for Advanced Hepatocellular Carcinoma
Despite a government shutdown, the FDA approved cabozantinib (Cabometyx) as a treatment for patients with hepatocellular carcinoma (HCC) who previously received sorafenib (Nexavar).
- Morquio and Maroteaux-Lamy Syndrome (MPS IV and VI) Overview
Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone in New York City provides an overview of Mucopolysaccharidosis type IV and VI (MPS IV and VI). Mucopolysaccharidosis type IV is also known as Morquio syndrome, is a progressive condition that mainly affects the skeleton.
- Myeloproliferative Neoplasms (MPNs)
Ellen Ritchie, MD, Associate Professor of Clinical Medicine, Weill Cornell Medical College, an expert in the field of Myeloproliferative Neoplasms (MPNs), provides a brief understanding of what this rare blood cancer is and the role patients and their …
- Proteus Syndrome: Overview and Emerging Therapies
Brian Schwartz, Chief Medical Officer of ArQule, discusses his company focus on Proteus syndrome, a rare condition characterized by overgrowth of the bones, skin, and other tissues.