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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.

3 Comments

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.

1 Comment

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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image: New Stem Cells on the Block

New Stem Cells on the Block

By | May 15, 2013

By reprogramming human fibroblasts into pluripotent stem cells with somatic cell nuclear transfer, scientists have come up with a viable alternative to iPSCs.

7 Comments

image: Telomeres Affect Gene Expression

Telomeres Affect Gene Expression

By | May 5, 2013

As telomeres shorten with age, genes as far as 1,000 kilobases away could be affected, including one responsible for an inherited muscle disease.

2 Comments

image: Some Insurers Protected by GINA

Some Insurers Protected by GINA

By | January 23, 2013

Long-term, life, and disability insurers may still be able to deny coverage to patients with a genetic disease, under current nondiscrimination legislation.

2 Comments

image: Identifying Diet-Treatable Diseases

Identifying Diet-Treatable Diseases

By | April 10, 2012

Scientists test which mutations underlie metabolic diseases that may benefit from changes in diet.

6 Comments

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