NPC Disease and it’s Connection to Ebola

Amy Marcus at the Wall Street Journal has written a short story about the unexpected connection between NPC and Ebola today.  It is a fascinating article that provides further compelling evidence about 2 concepts.

First, the idea that Rare Disease research can inform the research going on in the “big conditions” like Ebola

Second, it appears that NPC Disease is the unintended outcome of genetic protections that may have evolved in order to protect us against horrible viruses like Ebola.  It appears (from the animal models) that carriers of NPC mutations are more likely to survive an Ebola infection.

We donated our ‘fibroblasts’ (skin cells) in 2009 to a wonderful non-profit bio-bank called The Corriel Institute for Medical Research.  We could not have imagined that our cells would be used by researchers to study Ebola and to discover that the NPC gene and it’s proteins could provide critical answers to how best to treat and protect against Ebola.

The original article on the WSJ pay site is HERE.   A reposted version of the article is HERE on the Global Genes website.

 

Niemann Pick Type C Research Scientists

Mike Brown, Joe Goldstein, Rodney Infante
Brown and Goldstein Lab, University of Texas Southwestern, Department of Molecular Genetics

Daniel Ory
Washington University School of Medicine, St. Louis, Assistant Professor of Medicine, and Cell Biology and Physiology, Cardiovascular Division

Steve Walkley
Albert Einstein College of Medicine, Professor, Neuroscience

Lawrence S.B. Goldstein
Molecular Medicine Director, Howard Hughes Medical Institute, UC San Diego

Frances Platt
University of Oxford, Department of Pharmacology, Oxford, England

Christopher Austin
National Chemical Genomics Center, Director

Kyung-Sun Kang
Seoul National University, South Korea, Director, Stem Cell Program

Suzanne Pfeffer
Stanford University, Professor of Biochemistry

Synthia Mellon
UCSF, Developmental Regulation, Molecular Biology, and Novel Actions of Steroid/Neurosteroid Synthesis

John Dietschyand Benny Liu
University of Texas Southwestern Medical Center Department of Internal Medicine Division of Digestive and Liver Diseases

Frederick Maxfield
Cornell University, Professor and Chairman, Biochemistry

Matt Scott
Stanford University Bio-X Department

James Hildreth
McHerry Medical College, Director, Center for AIDS Health Disparities Research

Robert Erickson
University of Arizona, Professor of Genetics

Laura Liscum
Tufts University, Director of the Cellular and Molecular Physiology Department

Joyce Repa
University of Texas Southwestern Medical Center, Professor Physiology

Steve Sturley
Columbia University, Associate Professor of Clinical Nutrition

Charles Vite
University of Pennsylvania, Assistant Professor, Section of Neurology and Neurosurgery