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
Blindness: how better diagnosis of a rare illness might protect children’s sight
Startle disease: hunting down elusive genes
Neurofibromatosis type two - tackling disabling tumours with new drugs
Research Training Fellowship: Dr Chris Howell
Research Training Fellowship: Mr David Wilkinson
Beckwith-Wiedemann syndrome: can genetics help predict how a child’s illness will progress?
Research Training Fellowship: Dr Miriam Schmidts
Brittle bone disease: potential of stem cell therapy
Research Training Fellowship: Dr Manju Kurian
Metabolic diseases: hope of new treatments
Primary ciliary dyskinesia: improving diagnosis could relieve children’s suffering
Harlequin ichthyosis: tackling a severe skin disease
Rett syndrome: hopes of gene therapy
Previous research
Important new blood tests for devastating metabolic diseases
Microcephaly: finding the genes
Research Training Fellowship: Dr L Islam
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.
