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.

Previous research

Startle disease: hunting down elusive genes

Date: 1 March 2012 - 28 February 2014

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

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

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