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New discovery prevents symptoms of rare genetic disorder

A new study offers hope for children born with a rare genetic disease, according to a paper published by the American Association for the Advancement of Science. The research was led by Dr. Matthew Ellinwood, a veterinarian and animal science profe...

Scoring system is 93 percent accurate for diagnosing Wilson’s disease in...

An Italian research team confirmed that the scoring system for Wilson's disease (WD) provides good diagnostic accuracy with 93% positive and 92% negative predictive values, respectively in children with mild liver disease. In asymptomatic children, ...

Cheaper, more effective treatment of type 1 Gaucher disease possible

Researchers at Yale School of Medicine have found that new disease pathways involving more than one cell type leads to Type 1 Gaucher disease, a rare genetic disorder in which fatty substances called glycosphingolipids accumulate in cells, res...

Wrinkle-free mice provide clues about obesity, wrinkles and hair growth

What do wrinkles, hair growth and obesity have in common? All three may involve the same gene, according to researchers at Washington University School of Medicine in St. Louis. The team discovered that mice with a mutation in the gene that produces a protein already being investigated as a target for anti-obesity drugs fail to develop wrinkles or normal hair growth.

Enzyme replacement effective in treatment of ‘Fabry’ disease

A disorder in which the body fails to make a particular enzyme --- leading to severe pain in the hands and feet, and eventual damage to internal organs --- has been successfully treated for the first time in Los Angeles.

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