Rare and Genetic Disease Network
Featured
Acute Myeloid Leukemia
Acute myeloid leukemia (AML) is a cancer that affects the blood and bone marrow. Conditions are generally called "acute" when they develop quickly and have an aggressive course. The signs and symptoms of AML vary but may include easy bruising; bone pain or...
Eosinophilic Granulomatosis With Polyangiitis (EPGA)
Eosinophilic granulomatosis with polyangiitis (EGPA), also called Churg Strauss syndrome, is a rare, chronic disorder and a form of primary systemic autoimmune vasculitis characterized by inflammation of blood vessels.
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.
FDA Grants CTX001 Fast Track Status for Sickle Cell Disease
The U.S. Food and Drug Administration (FDA) has granted fast track status to investigational therapy CTX001 to treat sickle cell disease.
Lysosomal Storage Disorders
Lysosomal storage disorders (LSDs) are a group of about 50 genetic diseases caused by defects in lysosomal proteins or lysosomal related-proteins, which results in dysfunction of lysosomes.
Sickle Cell Disease Community Hopeful that Genome Editing Will Rechart Course of the Disease
In the first study of its kind, researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease (SCD). CRISPR-Cas9 is a gene editing technology that researchers have harnessed to explore two...
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 families play in...
Novel Approach to Gene Therapy for Sickle Cell Disease Shows Promise
Erica B. Esrick, MD, Hematologist at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center reported on her pilot trial in which one adult patient with Sickle Cell disease (SCD) received an infusion of his own stem cells in which a genetic “switch” was flipped on to induce the cells to both start producing healthy hemoglobin and stop producing unhealthy “sickle” hemoglobin.
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.
Beat AML Trial: Rapid Genetic Screening in Acute Myeloid Leukemia
Amy Burd, PhD, Vice President of Research Strategy at the Leukemia and Lymphoma Society (LLS), discusses her group’s multiarm, multisite collaborative trial which aims to test targeted therapy approaches for improving the generally poor prognosis among patients with AML.
Potential Use of Venetoclax in Multiple Myeloma
Rod Humerickhouse, MD, PhD, asset strategy leader at AbbVie discusses the potential use of venetoclax for the treatment of patients with multiple myeloma at the 60th ASH Annual Meeting in San Diego.
Special Reports
Rare in Common Podcast
American Society of Hematology Conference Coverage
Using Genomics to Better Understand Rare Diseases
Considering Rare Diseases for Challenging Cases
Duchenne Muscular Dystrophy
Rare Disease Diagnosis: Huntington’s Disease
Rare in Common Podcast
American Society of Hematology Conference Coverage
Using Genomics to Better Understand Rare Diseases
Considering Rare Diseases for Challenging Cases
Duchenne Muscular Dystrophy
