PERFORMANCE: Sheffield Children’s FT is co-ordinating a major study to screen newborn babies for five rare diseases.
Around 430,000 babies will be tested in the year-long study to see if undiagnosed illiness can be prevented from developing in children.
Sheffield will screen 75,000 children during the project as well as co-ordinating screening work at six other centres in Leeds, Great Ormond Street, Manchester Children’s Hospital, Birmingham Children’s Hospital and Guy’s and St Thomas’.
Routine blood tests will be used to screen for the five hard-to-detect metabolic conditions - maple syrup urine disease, homocystinuria, glutaric aciduria type 1, isovaleric acidaemia and long chain hydroxyacyl CoA dehydrogenase deficiency.
16 July 2012