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Targeting Rare Diseases In Children
Thousands of families across the UK are coping with the challenge of caring for a child with a rare and devastating disease for which there is no cure. With your help we can develop therapies for diseases in children including the genetic disorder Smith-Lemli-Opitz syndrome, rare forms of brain cancer and blindness, as well as startle disease.
Current research
Argininosuccinic aciduria– developing gene therapy for this metabolic disorder
Date:
17 June 2013 - 29 February 2016
Ataxias: hunting down the genetic causes of these devastating disorders of balance and coordination
Date:
1 July 2013 - 28 December 2015
Smith-Lemli-Opitz syndrome: working towards a new treatment
Date:
15 November 2012 - 14 November 2015
Primary ciliary dyskinesia: helping communities at risk of this debilitating illness
Date:
17 July 2013 - 16 July 2015
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
Research Training Fellowship: Dr Miriam Schmidts
Date:
1 June 2011 - 30 November 2013
Neurofibromatosis type two - tackling disabling tumours with new drugs
Date:
30 June 2011 - 31 October 2013
Beckwith-Wiedemann syndrome: can genetics help predict how a child’s illness will progress?
Date:
1 June 2010 - 1 September 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
Previous research
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
Microcephaly: finding the genes
Date:
1 September 2008 - 31 December 2012
Primary ciliary dyskinesia: improving diagnosis could relieve children’s suffering
Date:
1 November 2010 - 31 October 2012
Rett syndrome: hopes of gene therapy
Date:
1 October 2009 - 30 September 2012
Harlequin ichthyosis: tackling a severe skin disease
Date:
3 May 2010 - 22 August 2012
Important new blood tests for devastating metabolic diseases
Date:
1 November 2006 - 28 February 2012
Research Training Fellowship: Dr L Islam
Date:
1 December 2009 - 30 November 2011
Grace's story
Please be prepared – Grace’s story is inspirational but some may find it upsetting.
