genetic disease
Lisa Boyette Started a Nonprofit to Save Her Brother and Cure Other Diseases
Lisa Boyette Started a Nonprofit to Save Her Brother and Cure Other Diseases
Alison F. Takemura | Oct 1, 2016
Founder and CEO, Curable; Adjunct Assistant Professor, University of Pittsburgh. Age: 35
Newly Discovered Hormone Explains Disease
Newly Discovered Hormone Explains Disease
Kerry Grens | Apr 15, 2016
Patients with neonatal progeroid syndrome lack a glucose-releasing hormone, while people with insulin resistance have an abundance.
Genetic Resilience
Genetic Resilience
Tanya Lewis | Apr 11, 2016
An analysis of the genomes of nearly 600,000 healthy individuals reveals a handful of people who appear resistant to certain genetic disorders.
Disease-Causing Mutations in Healthy People
Disease-Causing Mutations in Healthy People
Amanda B. Keener | Jun 8, 2015
A large-scale genome sequencing effort identifies mutations with disease-causing potential at higher rates than expected.
Spinoff Company to Develop Rare Disease Drugs
Spinoff Company to Develop Rare Disease Drugs
Molly Sharlach | Jan 7, 2015
Maryland-based Vtesse will work with the US National Institutes of Health to advance treatments for Niemann-Pick Type C disease and other lysosomal storage disorders.
Rare Disease to Inform Ebola Susceptibility?
Rare Disease to Inform Ebola Susceptibility?
Jef Akst | Nov 4, 2014
Parents of children with the fatal genetic disease Niemann-Pick Type C are taking an active role in research to understand how mutations associated with the disease may protect against Ebola.
Muscle Disease Gene Identified in Fish
Muscle Disease Gene Identified in Fish
Ed Yong | Jun 4, 2013
Scientists discover gene behind an inherited muscle disorder by studying zebrafish embryos.
New Stem Cells on the Block
New Stem Cells on the Block
Dan Cossins | May 15, 2013
By reprogramming human fibroblasts into pluripotent stem cells with somatic cell nuclear transfer, scientists have come up with a viable alternative to iPSCs.
Telomeres Affect Gene Expression
Telomeres Affect Gene Expression
Ed Yong | May 5, 2013
As telomeres shorten with age, genes as far as 1,000 kilobases away could be affected, including one responsible for an inherited muscle disease.
Some Insurers Protected by GINA
Some Insurers Protected by GINA
Edyta Zielinska | Jan 23, 2013
Long-term, life, and disability insurers may still be able to deny coverage to patients with a genetic disease, under current nondiscrimination legislation.