Genetics

Gene therapy for inherited blindness

Retinitis pigmentosa is the most prevalent form of congenital blindness. Using a retinitis pigmentosa mouse model, LMU researchers have now shown that targeted activation of genes of similar function can compensate for the ...

Diseases, Conditions, Syndromes

In rare disorder, novel agent stops swelling before it starts

An early-stage clinical trial has found that, compared to a placebo, a novel medication significantly reduces potentially life-threatening episodes of swelling of the airway as well as the hands, feet, and abdomen of patients ...

Genetics

New genetic forms of neurodegeneration discovered

In a study published in the January 31, 2014 issue of Science, an international team led by scientists at the University of California, San Diego School of Medicine report doubling the number of known causes for the neurodegenerative ...

Medical research

RCSI research breakthrough in understanding hereditary emphysema

Researchers from the Royal College of Surgeons in Ireland (RCSI) and Beaumont Hospital have made an important breakthrough in the understanding and treatment of hereditary emphysema.  Their research findings were published ...

Neuroscience

'Unknown' neurological disorder often incorrectly diagnosed

The very serious hereditary disease HDLS was discovered in 1984 in Sweden. Many HDLS patients are still incorrectly diagnosed with Alzheimer's disease, MS or Parkinson's disease, but researchers at the Sahlgrenska Academy, ...

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