Developing protocols for modelling of genetic diseases
Research type
Research Study
Full title
Developing protocols for modelling of genetic diseases using induced pluripotent stem cells.
IRAS ID
234745
Contact name
Alex Armesilla
Contact email
Clinicaltrials.gov Identifier
Duration of Study in the UK
10 years, 0 months, 1 days
Research summary
Recent advances have shown that cells from human samples such as blood, skin and urine samples can be reprogrammed to become stem cells. These are called induced Pluripotent Stem Cells (iPSCs) and share many characteristics with embryonic stem cells, including an unlimited capacity for proliferation and the potential to become any cell in the body. Beneficially, the use of iPSCs avoids the ethical difficulties which surround embryonic stem cells and allows generation of iPSC lines which are disease representative. For example, we could take skin samples from an individual diagnosed with Huntington's disease and their unaffected sibling and using this technology, generate iPSC lines from both individuals. Using these iPSCs, we could produce cells from the affected and unaffected individuals and use these cells to research why these cells die and test new treatments to combat disease progression, essentially producing a ‘disease in a dish’. This is just one example of many for which this technology could be applied. We can also utilise gene-editing techniques to generate isogenic controls or insert disease related mutations to assess disease phenotype.
Although generation of iPSC lines has been robustly proven across multiple disease backgrounds, many aspects of their downstream use still remain to be determined. Particularly, robust protocols for directing iPSCs towards cell fates such as neurons or blood cells must be developed to fully realise application of iPSCs in disease modelling and drug screening.
This study involves the collection of human blood, skin or urine samples from subjects bearing a range of genetic diseases alongside those from individuals who have not been diagnosed with a disease, as controls. These samples will be used to generate iPSC lines for development of differentiation and disease phenotyping protocols.REC name
Scotland A: Adults with Incapacity only
REC reference
18/SS/0061
Date of REC Opinion
19 Jul 2018
REC opinion
Further Information Favourable Opinion