Thousands of families across the UK are coping with the reality of a child with a rare and devastating disease for which there is no cure. Help us bring hope to those forgotten families by supporting research to test new treatments for rare metabolic diseases such as Sandhoff disease, find ways to repair faulty genes that cause distressing and disabling conditions like Rett syndrome, and tackle rare forms of blindness and brain diseases, as well as test stem cell therapy to treat brittle bones in children.
Current research
Research Training Fellowship - Dr Rebecca Hill
Startle disease: hunting down elusive genes
Research Training Fellowship: Dr Chris Howell
Research Training Fellowship: Mr David Wilkinson
Research Training Fellowship: Dr Miriam Schmidts
Beckwith-Wiedemann syndrome: can genetics help predict how a child’s illness will progress?
Brittle bone disease: potential of stem cell therapy
Research Training Fellowship: Dr Manju Kurian
Metabolic diseases: hope of new treatments
Rett syndrome: hopes of gene therapy
Harlequin ichthyosis: tackling a severe skin disease
Previous research
Research Training Fellowship: Dr L Islam
Microcephaly: finding the genes
Researchers hope to improve the lives of children with a disabling muscle disease
Grace's story
Please be prepared – Grace’s story is inspirational but some may find it upsetting.
