Diseases, Conditions, Syndromes

Iron buildup in brain linked to higher risk for movement disorders

A disorder called hereditary hemochromatosis, caused by a gene mutation, results in the body absorbing too much iron, leading to tissue damage and conditions like liver disease, heart problems and diabetes. Scant and conflicting ...

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 ...

Diseases, Conditions, Syndromes

CRISPR treatment slows swelling in hereditary angioedema patients

Hereditary angioedema (HAE) is a rare, genetic disorder characterized by severe, recurring, and unpredictable swelling attacks in various organs and tissues of the body, which can be painful, debilitating, and life-threatening. ...

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 ...

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 ...

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