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image: Rare Disease Geneticist: A Profile of Uta Francke

Rare Disease Geneticist: A Profile of Uta Francke

By 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. 

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

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image: Exome Sequencing Helps Crack Rare Disease Diagnosis

Exome Sequencing Helps Crack Rare Disease Diagnosis

By Amanda B. Keener | May 1, 2018

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

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

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image: Monitoring Mutations with Microfluidics

Monitoring Mutations with Microfluidics

By Ruth Williams | March 15, 2018

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

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

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

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image: Genetic Mutation in Amish Linked to Longer Life

Genetic Mutation in Amish Linked to Longer Life

By Katarina Zimmer | November 16, 2017

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

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

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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.

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