Clinical Genetics

Our newborn screening laboratory performs tests on all babies born in South Yorkshire and East Midlands, a population of 5.3 million.

Did you know?

Our hospital is just one of two centres in the UK which diagnose and treat complex conditions Ehlers-Danlos syndrome and Huntington’s disease.

How have you helped?

Your donations funded a £500,000 ‘Gene Machine’ system to diagnose rare and inherited diseases. Able to screen 100 genes at once for mutations, it means tests on children with suspected genetic disorders can be returned within two weeks instead of taking a year.

Who have you helped?

Thanks to a pioneering screening programme at our hospital which detects rare, life-threatening diseases, Poppy’s diagnosis of Maple Syrup Urine Disease was confirmed within days of her birth. This prevented harmful chemicals building up, which could have caused brain damage and delayed her development.