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
Date:
1 August 2011 - 31 July 2014
Blindness: how better diagnosis of a rare illness might protect children’s sight
Date:
6 June 2012 - 5 June 2014
Startle disease: hunting down elusive genes
Date:
1 March 2012 - 28 February 2014
Neurofibromatosis type two - tackling disabling tumours with new drugs
Date:
30 June 2011 - 31 October 2013
Research Training Fellowship: Dr Chris Howell
Date:
1 September 2010 - 31 August 2013
Research Training Fellowship: Mr David Wilkinson
Date:
1 August 2011 - 31 July 2013
Beckwith-Wiedemann syndrome: can genetics help predict how a child’s illness will progress?
Date:
1 June 2010 - 31 May 2013
Research Training Fellowship: Dr Miriam Schmidts
Date:
1 June 2011 - 31 May 2013
Brittle bone disease: potential of stem cell therapy
Date:
8 March 2010 - 7 March 2013
Research Training Fellowship: Dr Manju Kurian
Date:
1 March 2009 - 31 January 2013
Metabolic diseases: hope of new treatments
Date:
4 January 2010 - 3 January 2013
Primary ciliary dyskinesia: improving diagnosis could relieve children’s suffering
Date:
1 November 2010 - 31 October 2012
Harlequin ichthyosis: tackling a severe skin disease
Date:
3 May 2010 - 2 October 2012
Rett syndrome: hopes of gene therapy
Date:
1 October 2009 - 30 September 2012
Previous research
Important new blood tests for devastating metabolic diseases
Date:
1 November 2006 - 28 February 2012
Microcephaly: finding the genes
Date:
1 September 2008 - 27 January 2012
Research Training Fellowship: Dr L Islam
Date:
1 December 2009 - 30 November 2011
Researchers hope to improve the lives of children with a disabling muscle disease
Date:
1 November 2007 - 31 May 2010
Grace's story
Please be prepared – Grace’s story is inspirational but some may find it upsetting.
