mutations
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. 
Valerie Arboleda Uses Big Data to Unravel the Biology of a Rare Disease
Valerie Arboleda Uses Big Data to Unravel the Biology of a Rare Disease
Shawna Williams | May 1, 2018
The UCLA geneticist examines how defects in a histone protein lead to symptoms throughout the body.
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.
Scientists Reverse Their Controversial Findings of CRISPR's Off-Target Effects
Scientists Reverse Their Controversial Findings of CRISPR's Off-Target Effects
Diana Kwon | Mar 28, 2018
Last year, researchers claimed the gene-editing method had accuracy issues, but a new whole-genome sequencing analysis by the same team finds otherwise.
Monitoring Mutations with Microfluidics
Monitoring Mutations with Microfluidics
Ruth Williams | Mar 15, 2018
A device dubbed the “mother machine” enables real-time observation of mutagenesis in single bacterial cells.  
First Direct-to-Consumer BRCA Test Authorized by FDA
First Direct-to-Consumer BRCA Test Authorized by FDA
Kerry Grens | Mar 6, 2018
The agency gave personal genomics company 23andMe the green light to screen samples for breast cancer–related genetic mutations.
Thousands of Mutations Accumulate in the Human Brain Over a Lifetime
Thousands of Mutations Accumulate in the Human Brain Over a Lifetime
Ruth Williams | Dec 7, 2017
Single-cell genome analyses reveal the amount of mutations a human brain cell will collect from its fetal beginnings until death.
Genetic Mutation in Amish Linked to Longer Life
Genetic Mutation in Amish Linked to Longer Life
Katarina Zimmer | Nov 16, 2017
Mutations in both copies of SERPINE1 can result in blood clotting disorders, but carriers might enjoy longer lifespan and health benefits. 
Base Editing Now Able to Convert Adenine-Thymine to Guanine-Cytosine
Base Editing Now Able to Convert Adenine-Thymine to Guanine-Cytosine
Catherine Offord | Oct 25, 2017
With the arrival of a new class of single-nucleotide editors, researchers can target the most common type of pathogenic SNP in humans.
Advisors to FDA Recommend Approval of Gene Therapy for Blindness
Advisors to FDA Recommend Approval of Gene Therapy for Blindness
Jef Akst | Oct 12, 2017
Spark Therapeutics’s Luxturna would be the first approved therapy in the U.S. that replaces or repairs a defective gene inherited from one’s parents.