Rare and Genetic Disease Network
Featured
Niemann-Pick Diseases Type A and B
Melissa Wasserstein, MD, from the Children’s Hospital at Montefiore, talks about Acid Sphingomyelinase Deficiency (ASMD), also known as Niemann-Pick Diseases type A or type B.
Diagnosing WHIM Syndrome
David Dale, MD at the University of Washington Medical Center in Seattle, discusses some of the challenges in diagnosing WHIM syndrome.
AvroBio’s Gene Therapy Focus
Geoff MacKay, CEO of Avrobio, described the company’s history and philosophy for developing ex vivo gene therapies.
FDA Approves New Treatment for Hemophilia Patients
The U.S. Food and Drug Administration (FDA) has approved Sevenfact [coagulation factor VIIa (recombinant)-jncw] to treat and control of bleeding episodes that occur in persons 12 years of age and older with hemophilia A or B with inhibitors (neutralizing antibodies)....
Journal Watch: Covid-19, Sjögren’s syndrome, SMA, and more
CheckRare Rare Disease Journal Watch: Covid-19, Sjögren’s syndrome, SMA, and more
Farber Disease Natural History Study
John Mitchell, MD, pediatric endocrinologist at Montreal Children’s Hospital and McGill University explains the need for a natural history study involving Farber disease.
Hereditary Angioedema (HAE)
Hereditary angioedema (HAE) is a rare genetic disease that has gone through a revolution in the past decade with numerous medications now available to treat people with HAE. Unfortunately, identifying those people remains a challenge for those unfamiliar with the...
Fulcrum Therapeutics
Diego Cadavid, MD, of Fulcrum Therapeutics explains the philosophy of the company and how they are developing therapies to stop certain mutated genes from overproducing certain proteins.
WHIM Syndrome: Etiology and Diagnosis
Philip M. Murphy, MD, Chief, Molecular Signaling Section, Laboratory of Molecular Immunology; Chief, Laboratory of Molecular Immunology, National Institute of Allergy and Infection, discusses the etiology and diagnosis of WHIM syndrome, a rare immunodeficiency...
FDA Grants Orphan Drug Status to Possible Covid-19 Treatment
The U.S. Food and Drug Administration (FDA) has granted an Orphan Drug Designation to remdesivir to treat persons with Covid-19.
Is it Gaucher or Niemann-Pick Disease?
Petra Oliva, PhD of Archimed Life Science explains the value of testing for both Gaucher disease and Neimann-Pick disease in persons suspected of having one of those rare conditions.
Pompe Disease Overview
David Kronn, MD, Associate Professor of Pediatrics at New York Medical College, provides an overview of Pompe disease.
Special Reports
WHIM Syndrome
Tenosynovial Giant Cell Tumor (TGCT)
Clinical Trials and Rare Diseases
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
WHIM Syndrome
Tenosynovial Giant Cell Tumor (TGCT)
Clinical Trials and Rare Diseases
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
