Seattle, Washington - New Test To Detect Rare Health Disorders

Seattle, Washington - Researchers at the University of Washington have devised a simple blood test that they say can detect rare disorders, progressive genetic diseases known as 'lysosomal storage disorders'.

These disorders can cause symptoms ranging from gross enlargement of the liver to mental retardation. Some 40-50 of the disorders are known, and in total they affect one in 5,000 people. Gaucher disease, one of the more common afflictions, affects a little more than one in 1,000 Ashkenazi Jews.

The researchers say their screening method can now detect seven of these diseases. Cambridge-based company Genzyme, which sells treatments for three of the diseases, hopes to see the screen made a routine part of newborn testing.

Newborn babies with these diseases can be healthy, because there has been little time for this material to build up. Blood tests are available for cases where lysosomal diseases are suspected.