Developing Protocols for Modelling of Genetic Diseases Using Induced Pluripotent Stem Cells

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.

Inclusion criteria

• Male or female
• Individuals diagnosed with a genetic disease - any age between 1-120 years.
• Individuals diagnosed with a genetic disease - must be able to communicate well with the investigator and to comply with the requirements of the entire study OR be under the care of an appropriate guardian, if incapacitated or under the age of 16.
• Individuals diagnosed with a genetic disease - require provision of written informed consent either by participant or guardian, to participate as shown by a witnessed signature on the Subject Consent Form
• Individuals participating as controls - aged between 16-120 years.
• Individuals participating as controls -must be able to consent for themselves

Exclusion criteria

• Individuals less than 1 year old.
• Infection with any blood borne diseases (e.g. HIV, Hepatitis B or Hepatitis C).
• Previous or current intravenous drug abuse.
• For donation of blood samples only - has exceeded annual limit for blood donation.
• Affected by blood disorders such as anaemia, blood clotting disorders or currently on anticoagulant drug therapy.
• Individuals participating as controls - excluded if aged less than 16 years old.
• Individuals participating as controls - excluded if unable to consent for themselves.
• Individuals diagnosed with a genetic disease - unable to provide informed consent either by themselves or through an appropriate nearest relative, legal guardian or welfare attorney.