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. 

The UCLA geneticist examines how defects in a histone protein lead to symptoms throughout the body.

Clinical analyses of patients’ gene sequences are helping to provide answers where none were available before.

Last year, researchers claimed the gene-editing method had accuracy issues, but a new whole-genome sequencing analysis by the same team finds otherwise.

A device dubbed the “mother machine” enables real-time observation of mutagenesis in single bacterial cells.  

The agency gave personal genomics company 23andMe the green light to screen samples for breast cancer–related genetic mutations.

Single-cell genome analyses reveal the amount of mutations a human brain cell will collect from its fetal beginnings until death.

Mutations in both copies of SERPINE1 can result in blood clotting disorders, but carriers might enjoy longer lifespan and health benefits. 

With the arrival of a new class of single-nucleotide editors, researchers can target the most common type of pathogenic SNP in humans.

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.