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image: Positive Trial Results for Experimental DMD Gene Therapy

Positive Trial Results for Experimental DMD Gene Therapy

By Catherine Offord | June 20, 2018

Preliminary data from Sarepta Therapeutics has exceeded expectations, causing a surge in company stock prices this week.

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Changes in gene activity levels after DBS appear to underlie improvements seen in a mouse model of Rett syndrome, a genetic disease that causes intellectual disability.

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Researchers stumbled across the connection while searching for ways to reduce vision problems in people with achromatopsia.

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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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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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The disorder, called X-linked hypohidrotic ectodermal dysplasia, leaves patients unable to produce sweat, which can be life-threatening.

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image: Man Receives First In Vivo Gene-Editing Therapy

Man Receives First In Vivo Gene-Editing Therapy

By Kerry Grens | November 15, 2017

The 44-year-old patient has Hunter syndrome, which doctors hope to treat using zinc finger nucleases.

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image: Image of the Day: Everybody Needs a Friend

Image of the Day: Everybody Needs a Friend

By The Scientist Staff | August 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.

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Adding RNA sequencing analysis to genomic sequencing helps scientists uncover mutations likely responsible for genetic disorders they might otherwise miss.

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image: CRISPR Corrects Duchenne-Causing Mutations

CRISPR Corrects Duchenne-Causing Mutations

By Anna Azvolinsky | April 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.

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