Scientists at The Jackson Laboratory (JAX) have developed mouse models that survive premature death and enable pre-clinical ...

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

More than 70% of the >6,000 unique rare diseases are genetic, the researchers further noted, “… and, collectively, they constitute a major health issue, with 3.5–6.0% of individuals affected ...

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 ...

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 ...

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