Tilly has the rare genetic condition MucoPolySaccharidosis, a form of childhood dementia. advertisement. BBC. ... progressive fatal disease which affects just one in 70,000 live births.

Hunter syndrome, also called mucopolysaccharidosis II or MPS II, is a rare disease that's passed on in families. It mainly affects boys. Their bodies can't break down a kind of sugar that builds ...

Sanfilippo syndrome, also known as mucopolysaccharidosis type III, is a rare life-threatening disorder that interferes with metabolism.While it doesn’t have a cure, some symptoms can be treated ...

A groundbreaking blood test promises to transform the diagnosis of rare genetic diseases in babies and children, offering results in under three days.

Recent advances in genetics have made it possible for many people with rare diseases to get the diagnoses they need via genetic testing. However, many insurance plans won’t pay for this state-of ...

With 80% of rare diseases having a genetic cause, getting a head start on genetic testing for infants can be the key to an earlier diagnosis and a better quality of life for new additions to the ...