Generation of stem cell lines for rare diseases of childhood
Research type
Research Study
Full title
Generation of induced pluripotent stem cell lines to investigate rare diseases of childhood \n\n
IRAS ID
244801
Contact name
Jane C Sowden
Contact email
Sponsor organisation
UCL GOSH Institute of Child Health
Duration of Study in the UK
5 years, 0 months, 1 days
Research summary
The aim of this study is to develop greater understanding of the causes and treatments of rare diseases. The majority of rare diseases have a genetic cause and about 50% affect children. Around seven thousand diagnosed genetic disorders have been identified and it is estimated that around 30,000 new cases (one in 25 children) are diagnosed in the UK each year. Recent advances in the field of stem cells, genomics, and gene therapies have provided new opportunities to research advanced treatments for rare childhood diseases. \n \nStem cells provide an excellent opportunity to study rare childhood diseases in vitro. Somatic cells can be reprogramed to generate induced pluripotent stem cells (iPSCs). ‘Pluripotent’ cells have the ability to turn into many different types of cell. iPSCs can be used to model disorders in vitro to investigate molecular mechanisms leading to development of a childhood disorder. They can also be used to develop novel procedures to treat these conditions using cell-based and gene-therapy based approaches.\n\nThe aim of this study is to generate new iPSC lines from individuals with inherited childhood disorders. We will use these iPSC lines to study these disorders and to develop advanced therapies.
REC name
London - Brighton & Sussex Research Ethics Committee
REC reference
18/LO/1206
Date of REC Opinion
10 Aug 2018
REC opinion
Further Information Favourable Opinion