Challenges

Experts share their insights in diagnosing and managing rare conditions
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)....

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 Explained

Pompe Disease Explained

Dwight Koeberl, MD, PhD, of Duke University School of Medicine provides an overview of Pompe disease.

FDA’s Gene Therapy Guidances

FDA’s Gene Therapy Guidances

Geoff MacKay, president and CEO of Avrobio, a gene therapy company focused on lysosomal diseases talks about the FDA’s guidances they have published to help industry and researchers develop gene therapies.

New ERT for Pompe Disease Showing Promise

New ERT for Pompe Disease Showing Promise

David Kronn, MD, Associate Professor of Pediatrics at New York Medical College describes the latest results from the mini-COMET phase II study testing avalglucosidase alfa to treat Pompe disease.

Morquio Syndrome Type A Overview

Morquio Syndrome Type A Overview

Barbara Burton, MD of Lurie Children’s Hospital of Chicago explains Morquio syndrome type A, a rare lysosomal storage disorder.

WHIM Syndrome Overview

WHIM Syndrome Overview

Philip M. Murphy, MD, Chief, Molecular Signaling Section, Laboratory of Molecular Immunology; Chief, Laboratory of Molecular Immunology, National Institute of Allergy and Infection, provides an overview of WHIM syndrome, a rare immunodeficiency disorder.

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