Genetic Disease Clinical Trial
Official title:
Developing Protocols for Modelling of Genetic Diseases Using Induced Pluripotent Stem Cells
Recent advances have shown that cells from human 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 disease affected cell populations from the affected and unaffected individuals,
use these cells to research why specific cell populations are affected by disease 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.
Recent advances in biotechnology have shown that somatic cells (such as skin, blood and urine
cells) from human adults and children can be reprogrammed to change their characteristics and
become other types of cells that may be useful for disease modelling and drug screening. This
includes the generation of induced pluripotent stem cells (iPS cells) which can be derived
from these somatic cells by a process known as "cellular reprogramming". These iPSCs share
many characteristics with embryonic stem cells, including an unlimited capacity for
proliferation and the potential to differentiate into any cell of the body. However, unlike
embryonic stem cells, the generation of iPSCs avoids the practical and ethical difficulties
of obtaining embryonic tissues. Consequently, cellular reprogramming and iPSC technology has
great implications in the field of disease modelling and drug screening.
Many obstacles must be overcome before iPSC based disease modelling and drug screening can
fully be realised and allow replacement of inadequate animal models and simplistic cell
models. This study will enable us to gather samples from a range of participants from
different disease backgrounds, and to develop suitable panels of iPSCs for the purpose of
protocol development. Development of robust protocols which are suitable for use across
multiple iPSC lines and repeatable across multiple laboratories are essential for the use of
iPSCs in disease modelling and drug screening. This study will allow us to look at causation
of disease across a range of disease specific cell lines with known genetic backgrounds which
are representative of a cohort of human patients. This is fundamental for development of iPSC
based drug screening assays.
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