Rare and Genetic Disease Network
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FDA Approves Second Exon-Skipping Drug for Duchenne
The U.S. Food and Drug Administration has approved Vyondys 53 (golodirsen) to treat patients with Duchenne muscular dystrophy (DMD) amenable to exon 53 skipping. Golodirsen is an antisense oligonucleotide that can ‘skip’ over aspects of the RNA to make person’s with...
Gene Control vs Gene Therapy
David Roth, MD of Syros Pharmaceuticals describes his company’s gene control methodology to target genetic conditions in a unique way.
ASH Highlights: Which Clinician Usually Diagnoses Von Willebrand Disease Patients?
Jonathan C. Roberts, MD, of the Bleeding & Clotting Disorders Institute, Peoria, IL talks about a recent claims data for children and adolescents with Von Willebrand disease.
ASH Highlights: Adding Daratumumab to SoC Improves Depth of Response in Multiple Myeloma
Peter Voorhees, MD of the Levine Cancer Institute in Charlotte, NC provides an update on the Griffin Study, a Phase 2 clinical trial comparing subcutaneous daratumumab in combination with standard-of-care regimens for newly diagnosed multiple myeloma.
ASH Highlights: Combination Oral Therapy for Relapsed CLL Shows Promise
Jennifer Crombie, MD, of the Department of Medical Oncology at Dana-Farber Cancer Institute in Boston, MA discusses the results of a phase I study testing the combination of duvelisib and venetoclax in patients with relapsed or refractory chronic lymphocytic leukemia (CLL).
FDA Puts Hold on Trials for Rare Bone Disease
The U.S. Food and Drug Administration has issued a partial clinical hold in two studies underway to test palovarotene chronic treatment of fibrodysplasia ossificans progressiva (FOP) and multiple osteochondromas, respectively.
Testing for Hereditary Angioedema is Easy
In this video clip, Timothy Craig, DO of the Penn State Milton S. Hershey Medical Center describes some of the symptoms that may warrant testing for HAE.
CRB1 Retinal Disease and Quality of Life
Kristin Smedley, president of Curing Retinal Blindness Foundation, talks about what doctors need to know about conditions such as retinitis pigmentosa and Leber congenital amaurosis.
Rare Diseases are a Global Concern
Femida Gwady-Sridhar, PhD, talks her involvement with Rare Disease International (RDI).
Lipodystrophy is Often Misdiagnosed
Andra Stratton, president of Lipodystrophy United explains how lipodystrophy is often misdiagnosed or under-diagnosed. Lipodystrophy is a rare medical condition in which persons have an abnormal distribution of fat in the body. There are numerous types of...
Spinal Muscular Atrophy
Spinal muscular atrophy (SMA) is a rare inherited neuromuscular disorder caused by an inadequate level of the survivor motor neuron (SMN) protein due to mutations in the SMN1 gene. The SMN protein appears to play a role in regulating small nuclear ribonucleoproteins...
New Monoclonal Antibodies Superior to ZMapp in Treating Ebola Virus Disease
New published data shows that the monoclonal antibody combination therapy, REGN-EB3 developed by Regeneron Pharmaceuticals, and the monoclonal antibody Mab114 developed by the National Institutes of Health and licensed by Ridgeback Biotherapeutics, are superior to...
Special Reports
Tenosynovial Giant Cell Tumor (TGCT)
Accelerating the Road to Treatment: The Global Commission to End the Diagnostic Odyssey for Children
Mucopolysaccharidosis (MPS) Resource Center
Overview of the Mucopolysaccharidoses
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
Tenosynovial Giant Cell Tumor (TGCT)
Accelerating the Road to Treatment: The Global Commission to End the Diagnostic Odyssey for Children
Mucopolysaccharidosis (MPS) Resource Center
Overview of the Mucopolysaccharidoses
Rare in Common Podcast
American Society of Hematology Conference Coverage
Considering Rare Diseases for Challenging Cases
Duchenne Muscular Dystrophy
