Gene therapy has been used to alleviate symptoms of a condition which is a leading cause of inherited learning difficulties and autism. There is currently no treatment for fragile X syndrome, also linked to epilepsy and abnormal body growth, but the new work raises hopes of progress.
Author Terry Pratchett is suffering from a rare form of early Alzheimer's disease, it has been revealed. In a letter published on the website of artist Paul Kidby, the writer said the condition was behind a "phantom stroke" he had earlier this year.
A controversial decision to limit drugs for a major cause of blindness has been reversed by the NHS drug watchdog in England and Wales. The National Institute for Health and Clinical Excellence (NICE) reconsidered its guidance after 13,000 complaints.
A boy with a life-limiting illness is the star of a new book aimed at giving children a better understanding of disability. As well as caring for her son David, author Heather McCarter works as a classroom assistant in Rowandale Integrated Primary School in Moira, County Down.
A woman with disabilities waited three years for vital equipment because NHS bodies could not agree who should pay for it, a health watchdog has found. In 2003, carers said Sarah Dadd, 28, from Cogan near Cardiff, should be given a specialist bed. In 2004 they said she needed a specialist chair too.
Support for people with learning disabilities in Wales is fragmented, leaving some living far away from their families, according to a new report. The Healthcare Inspectorate Wales (HIW) review said there were major gaps in the system, especially at school leaving age.