genetic disease
Man Receives First In Vivo Gene-Editing Therapy
Man Receives First In Vivo Gene-Editing Therapy
Kerry Grens | Nov 15, 2017
The 44-year-old patient has Hunter syndrome, which doctors hope to treat using zinc finger nucleases.
Image of the Day: Everybody Needs a Friend
Image of the Day: Everybody Needs a Friend
The Scientist Staff | Aug 10, 2017
The protein encoded by the gene that causes Fragile X in humans partners with another protein, dNab2, to alter gene expression in fruit fly neurons.
RNA-Seq Reveals Previously Hidden, Genetic Disorder–Causing Mutations
RNA-Seq Reveals Previously Hidden, Genetic Disorder–Causing Mutations
Anna Azvolinsky | Apr 19, 2017
Adding RNA sequencing analysis to genomic sequencing helps scientists uncover mutations likely responsible for genetic disorders they might otherwise miss.
CRISPR Corrects Duchenne-Causing Mutations
CRISPR Corrects Duchenne-Causing Mutations
Anna Azvolinsky | Apr 12, 2017
Using CRISPR-Cpf1 gene editing, researchers have fixed mutations that cause a form of muscular dystrophy in cultured human cardiomyocytes and a mouse model.
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.