Rare and Genetic Disease Network

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Niemann-Pick Diseases Type A and B

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

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

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

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)....

Farber Disease Natural History Study

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)

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

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

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...

Is it Gaucher or Niemann-Pick Disease?

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

Pompe Disease Overview

David Kronn, MD, Associate Professor of Pediatrics at New York Medical College, provides an overview of Pompe disease.

Special Reports

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