Generation of iPS Cells and Rare Diseases
Research type
Research Study
Full title
Generation of Induced Pluripotent Stem (iPS) Cells and Rare Diseases
IRAS ID
137570
Contact name
Willem Ouwehand
Contact email
Sponsor organisation
Cambridge University hospitals NHS Foundation Trust & University of Cambridge
Duration of Study in the UK
2 years, 1 months, 16 days
Research summary
Many Rare Diseases have a genetic basis and we and others have made a significant contribution to the identification of genes that cause disease. For those patients where we have identified the cause of disease the challenge is to identify how a mutation causes disease at a cellular level and thus to begin the process of designing therapeutic strategies to treat the disease. The first step in this process is to have sufficient and appropriate cellular material to work with.
This project aims to use samples containing cells from patients with specific phenotypes and their relatives, to reprogramme the cells/material into iPS Cells in the laboratory. The sample could be skin cells through small skin biopsies, blood, urine, hair roots, or surplus tissue from a diagnostic/therapeutic procedure (for example lymph node biopsy, splenectomy, liposuction, harvest of bone marrow/peripheral blood for stem cell procurement, removal of tumours), etc. into iPS cells in the laboratory. The type of cells which may be generated from donated cells may be for example, endothelial cells which line the inside of your blood vessels, stem cells that make all blood cells, neuron cells and liver cells. These tissues are often inaccessible and so iPSC technology provides a powerful alternative means to create and study cells from certain organs.
REC name
East of England - Cambridge Central Research Ethics Committee
REC reference
15/EE/0049
Date of REC Opinion
22 Apr 2015
REC opinion
Further Information Favourable Opinion