Genetics

The medical odyssey of an undiagnosed child

Children born with ADNP-related autism syndrome suffer from a heart-breaking combination of ambiguous developmental problems injurious to both their physical health and cognitive functioning. For parents, the mystery surrounding ...

Jul 21, 2015
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Discovered a cause of mental retardation and autism

The term intellectual disability covers a large number of clinical entities, some with known cause and others of uncertain origin. For example Down syndrome is due to an extra copy of chromosome 21 and Rett syndrome is in ...

Jul 20, 2015
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Why bad genes don't always lead to bad diseases

That two people with the same disease-causing mutation do not get sick to the same extent has been puzzling scientists for decades. Now Professor Andy Fraser and his team have uncovered a key part of what makes every patient ...

Jul 16, 2015
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Novel approach identifies unique DNA signature

Researchers in Keele University's Research Institute for Science and Technology in Medicine and at the Haywood Rheumatology Centre, in Staffordshire, UK, and the University Hospitals of North Midlands NHS Trust, have for ...

Jul 15, 2015
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