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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
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
Amanda B. Keener | May 1, 2018
Clinical analyses of patients’ gene sequences are helping to provide answers where none were available before.
Microglia Remember Bouts of Bodily Inflammation in Mice
Ashley Yeager | Apr 11, 2018
A new study reports that immune memory may contribute to neurodegenerative diseases.
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.
Mouse Moms’ Behavior Affects Pups’ Genome Structures
Abby Olena | Mar 22, 2018
Mice who get less attention from their mothers have more copies of a common retrotransposon in the genomes of their hippocampal neurons.
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
Kerry Grens | Mar 6, 2018
The agency gave personal genomics company 23andMe the green light to screen samples for breast cancer–related genetic mutations.
Study Finds Epigenetic Differences Between Hatchery-Raised and Wild-Born Salmon
Shawna Williams | Mar 1, 2018
The variation may help explain why stocked salmon don’t fare as well in the ocean.
Stem Cells Made by Modifying the Epigenome with CRISPR
Abby Olena | Jan 25, 2018
Researchers use the technique to turn on
in mouse embryonic fibroblasts and convert them into pluripotent cells.