ISTOCK, D3DAMON
FDA Approves Oral Drug for Fabry Disease
FDA Approves Oral Drug for Fabry Disease
The medicine increases the activity of a deficient enzyme in certain patients with the condition.
FDA Approves Oral Drug for Fabry Disease
FDA Approves Oral Drug for Fabry Disease

The medicine increases the activity of a deficient enzyme in certain patients with the condition.

The medicine increases the activity of a deficient enzyme in certain patients with the condition.

genetic disease
Bioethics Council: Gene-Editing Human Embryos Conditionally OK
Bioethics Council: Gene-Editing Human Embryos Conditionally OK
Shawna Williams | Jul 17, 2018
The UK-based organization encourages public debate about the issue but does not recommend immediate policy change.
Rare Disease Geneticist: A Profile of Uta Francke
Rare Disease Geneticist: A Profile of Uta Francke
Anna Azvolinsky | May 1, 2018
The Stanford University human geneticist identified the genes and genomic abnormalities underlying numerous rare diseases, including Rett  syndrome, and advanced the field of molecular diagnostics. 
Colorblindness Study Reveals Unexpected Way to Make Blood Vessels
Colorblindness Study Reveals Unexpected Way to Make Blood Vessels
Ashley Yeager | May 1, 2018
Researchers stumbled across the connection while searching for ways to reduce vision problems in people with achromatopsia.
Exome Sequencing Helps Crack Rare Disease Diagnosis
Exome Sequencing Helps Crack Rare Disease Diagnosis
Amanda B. Keener | May 1, 2018
Clinical analyses of patients’ gene sequences are helping to provide answers where none were available before.
Doctors Successfully Treat Rare Genetic Disorder in Utero
Doctors Successfully Treat Rare Genetic Disorder in Utero
Jim Daley | Apr 26, 2018
The disorder, called X-linked hypohidrotic ectodermal dysplasia, leaves patients unable to produce sweat, which can be life-threatening.
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.