Genetics

Protein regulation linked to intellectual disability

Genetics researchers at the University of Adelaide have solved a 40-year mystery for a family beset by a rare intellectual disability – and they've discovered something new about the causes of intellectual disability in ...

Neuroscience

DNA detectives track down nerve disorder cause

Better diagnosis and treatment of a crippling inherited nerve disorder may be just around the corner thanks to an international team that spanned Asia, Europe and the United States. The team had been hunting DNA strands for ...

Neuroscience

Fainting: All in the family?

Fainting has a strong genetic predisposition, according to new research published in the August 7, 2012, print issue of Neurology, the medical journal of the American Academy of Neurology. Fainting, also called vasovagal ...

Genetics

Study links genes to common forms of glaucoma

Results from the largest genetic study of glaucoma, a leading cause of blindness and vision loss worldwide, showed that two genetic variations are associated with primary open angle glaucoma (POAG), a common form of the disease. ...

Diseases, Conditions, Syndromes

Small number of genes involved in X-linked ichthyosis

(HealthDay) -- Patients with X-linked recessive ichthyosis (XLRI) have altered expression in a small number of genes, and although moisturizer treatment improves dryness, it doesn't affect other biophysical properties or ...

Genetics

Scientists identify mutations that cause congenital cataracts

New research identifies genetic mutations that cause an inherited form of cataracts in humans. The study, published online June 2 by Cell Press in the American Journal of Genetics, provides new insight into the understanding ...

Genetics

Gene therapy targets inner retina to combat blindness

Gene therapy to the inner retina prevented blindness in a mouse model of the neuro-degenerative disorder CLN3 Batten disease. Adeno-associated viral (AAV)-mediated expression of the human CLN3 gene led to significant survival ...

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