Hemlibra to Treat Hemophilia A

  Gallia Levy, MD, PhD, Associate Group Medical Director at Genentech, explains treatment options for hemophilia A. Hemophilia A is a genetic disorder caused by missing or defective clotting protein, factor VIII. Symptoms are dependent on the level factor VIII...

WHIM Syndrome

WHIM syndrome is a rare, congenital primary immunodeficiency disorder associated with severe neutropenia that affects all ages. However, due to the heterogeneous presentation of the disease, coupled with lack of awareness of the condition, the diagnosis may be...

Sickle Cell Disease Explained

  Farzana Sayani, MD, Assistant Professor of Medicine at the Hospital of the University of Pennsylvania explains the pathophysiology of sickle cell disease. Sickle cell disease is an inherited blood disorder in which the red blood cells are abnormally sickle...

Farber Syndrome Explained

  John Mitchell, MD, pediatric endocrinologist at Montreal Children’s Hospital and McGill University explains the pathophysiology, symptoms, and treatment options for Farber disease. Farber disease is a rare lysosomal disorder due to mutations of the ASAH1 gene....

p38 inhibition to Treat FSHD: Turning Off DUX4

By Fran Sverdrup, PhD, Associate Professor, Department of Biochemistry and Molecular Biology at Saint Louis University.  Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common forms of muscular dystrophy.  The name itself offers important insights...

Castleman Disease Explained

  Ruth-Anne Langan Pai, PHD Candidate and the collaborative research project lead for the Castleman Disease Collaborative Network (CDCN) provides an overview of Castleman disease. Castleman disease is a group of rare disorders characterized by lymph node...
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