Whole genome sequencing involves the analysis of all three billion pairs of letters in an individual's DNA and has been hailed as a technology that will usher in a new era of predicting and preventing disease. However, the ...
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Up to 90 percent of people with amyotrophic lateral sclerosis (ALS) report that they have no family history of the disease. Now, new research has found approximately 17 percent of such ALS cases may be caused by a gene mutation, ...
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Scientists have discovered a new cellular pathway that can promote and support the growth of cancer cells. In a mouse model of melanoma, blocking this pathway resulted in reduction of tumor growth. The study, which appears ...
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The European Court of Human Rights on Tuesday ordered the British government to keep providing a baby with a rare genetic disease with "appropriate" treatment after a London High Court ruling that he should be allowed to ...
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A genetic variant that protects the heart against cardiovascular disease has been discovered by researchers at the Wellcome Trust Sanger Institute and their collaborators. Reported today in Nature Communications, the cardioprotective ...
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A new gene behind a rare form of inherited childhood kidney disease has been identified by a global research team.
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Giant axonal neuropathy (GAN) is an extremely rare genetic disease with only 73 known patients worldwide. GAN causes a gradual failure of motor neurons that stimulate muscles and eventually failure of sensory neurons. New ...
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A worldwide consensus co-authored by more than 40 scientists sets out ways to address research bottlenecks as the international community strives to diagnose most rare genetic diseases by 2020.
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Lynn Whittaker stood in the hallway of her home looking at the framed photos on the wall. In one, her son, Andrew, is playing high school water polo. In another, he's holding a trombone.
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Genetic diagnosis of disease and personalization of treatment have the potential to dramatically improve strategies for diagnosis and therapy. Around 80% or rare diseases are thought to have a genetic component, but currently ...
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