genetic disease

Previous analysis showed it identified 60 new genetic diseases and gave 5,500 families a diagnosis for the first time.

At present it can take years for genetic diseases to be diagnosed, and these are often picked up only once a child becomes seriously ill.

Losing a baby to severe genetic disease leads to profound suffering for families.

Negotiations are still under way to see if the same therapy can be used on the NHS for another genetic disease affecting haemoglobin - sickle cell anaemia.

After he was treated with plasmapheresis and rituximab, his condition stabilized for a year before “the underlying genetic disease” began to progress again, Prüss says.