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image: Image of the Day: Everybody Needs a Friend

Image of the Day: Everybody Needs a Friend

By | 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 | 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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Founder and CEO, Curable; Adjunct Assistant Professor, University of Pittsburgh. Age: 35

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image: Newly Discovered Hormone Explains Disease

Newly Discovered Hormone Explains Disease

By | April 15, 2016

Patients with neonatal progeroid syndrome lack a glucose-releasing hormone, while people with insulin resistance have an abundance.

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image: Genetic Resilience

Genetic Resilience

By | April 11, 2016

An analysis of the genomes of nearly 600,000 healthy individuals reveals a handful of people who appear resistant to certain genetic disorders.

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image: Disease-Causing Mutations in Healthy People

Disease-Causing Mutations in Healthy People

By | June 8, 2015

A large-scale genome sequencing effort identifies mutations with disease-causing potential at higher rates than expected.

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image: Spinoff Company to Develop Rare Disease Drugs

Spinoff Company to Develop Rare Disease Drugs

By | January 7, 2015

Maryland-based Vtesse will work with the US National Institutes of Health to advance treatments for Niemann-Pick Type C disease and other lysosomal storage disorders.

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image: Rare Disease to Inform Ebola Susceptibility?

Rare Disease to Inform Ebola Susceptibility?

By | November 4, 2014

Parents of children with the fatal genetic disease Niemann-Pick Type C are taking an active role in research to understand how mutations associated with the disease may protect against Ebola.

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image: Muscle Disease Gene Identified in Fish

Muscle Disease Gene Identified in Fish

By | June 4, 2013

Scientists discover gene behind an inherited muscle disorder by studying zebrafish embryos.

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