Scientists from elite institutions all around the country are using biospecimens from the world-renowned Coriell Institute Biobank to conduct meaningful Ebola virus disease research.
Jessica Firger, a national health editor with CBS News, relates the story of the Hempel family. Parents Chris and Hugh have spent the last 10 years championing on behalf of their twin daughters, Addi and Cassi. The girls are two of 500 known individuals in the world diagnosed with Niemann-Pick Type C (NPC), an extremely rare and fatal genetic disorder that results from mutations in the NPC1 gene and causes neurological, cognitive and motor complications.
The Hempels spent the last decade working closely with researchers to encourage and facilitate the exploration of this disease. During that time, the family submitted skin cells to Coriell Institute for study. Recently, top virologists were able to make an unexpected discovery using cells from patients with NPC.
Outlined in a pair of papers published in Nature and Nature Biotechnology in 2011, scientists determined a link between resistance to Ebola virus and the NPC1 gene, a cholesterol transport protein that, when mutated, is known to cause a form of Niemann-Pick disease.
Findings indicate that the Ebola virus relies on the protein produced from the NPC1 gene for cell entry and replication. If cells do not produce this protein – as is the case with the Hempel children – the virus ultimately cannot take hold.
In the wake of this development, scientists at the Albert Einstein College of Medicine in New York, the United States Army Medical Research Institute of Infectious Diseases, the Netherlands Cancer Institute and the Harvard Medical School have been collaborating and conducting studies to further illuminate this connection.
At the center of this exciting research is the Coriell Institute, the world's largest repository for NPC cell lines.
"Uncovering the mechanisms behind serious diseases, such as Ebola, is an obligation the entire global scientific community shares," says Dr. Dorit Berlin, Coriell's Director of Biobanking. "By housing the most diverse assortment of biospecimens available to biomedical researchers, Coriell is in a position to empower crucial public health breakthroughs."
The NIGMS Human Genetic Cell Repository at Coriell Institute is sponsored by the National Institute of General Medical Sciences.
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The story was initially covered by Amy Dockser Marcus, a senior health writer with the Wall Street Journal. Click here to learn more.
