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The importance of patient involvement in stem cell research

Last Reviewed 03/03/2017

By Reena Halai

This blog was written by Reena Halai who is the Project Manager for the Human Induced Pluripotent Stem Cell Initiative (HipSci), based at the Wellcome Trust Sanger Institute. Here she talks about the importance of providing scientific researchers with an open access induced pluripotent[1] stem cell resource for the study of rare diseases.

What is HipSci?

The Human Induced Pluripotent Stem Cells Initiative (HipSci) is a £12.75 million research project funded by the Wellcome Trust and the Medical Research Council, to generate a large, high-quality, deeply characterised reference panel of human induced pluripotent stem cells from healthy individuals and donors with rare diseases.

What is a stem cell?

In simple terms, we can think of stem cells as non-specialised cells that have the potential to develop into many different specialised cell types such as brain, muscle, nerve and skin cells. Stem cells exist in the embryo during early life and growth, but also in adults to allow tissues to be renewed. Some types of specialised cells, such as neurons from the brain, may be important to study to help understand disease, but are difficult or impossible to obtain. Induced pluripotent stem cells (iPSCs) can be generated in the lab to help face this problem. iPSCs are a type of stem cell generated from adult cells that have been reprogrammed to act like the stem cells found in the embryo.

How do rare disease patients fit into this initiative?

Well, without the patients, we would have no stem cells! Our patients voluntarily provide us with a sample of adult tissue in the form of a small skin punch biopsy or blood, which we use to make the stem cells.

To obtain these biological samples, we have worked closely with many specialised clinicians across the UK. A set number of patients have been recruited into each rare disease cohort in our collection, e.g Usher syndrome, Bardet Biedl syndrome, Kabuki syndrome etc, and efforts have been made to identify and include patients with as many gene variants as possible, in the hope that we can provide a good representation of the disease.  In addition we have collected many samples from healthy people for comparison to the samples from patients.

What do the patients get back?

Any participation in HipSci has been solely voluntary. This is where an incredible amount of credit needs to be given to our participants. Patients have travelled from all across the UK to participate in HipSci, understanding that the research on the stem cells we produce is not likely to yield anything fruitful from a therapeutic perspective for many years to come, and therefore unlikely to provide any direct benefit to them or their child. Despite this, patients are willing to participate for the greater good, in the hope that these stem cells can be used in research that will help others with these diseases in the future.

Why are stem cells important for progressing research into rare diseases?

By deriving induced pluripotent stem cells (iPSCs) from patients with a wide range of rare genetic diseases, we have opened the door to modeling these diseases in the laboratory. These iPSCs can be used to generate the same types of cells affected in the associated condition, which can then improve our understanding of disease mechanisms and potentially lead to the development of new therapeutics.

To truly understand the complexities of rare diseases, it is imperative to understand the genetic and phenotypic variation that exists within the ‘healthy population’. For this reason, the HipSci project has in parallel generated a large bank of stem cells from healthy donors.

What makes HipSci so special in advancing rare disease research?

The stem cell resource and comprehensive data sets we generate are available to the entire research community, both in the UK and overseas. Stem cells are very expensive to generate and very few research laboratories in the world have the finance, or the facilities and expertise required to systematically generate and deeply characterise the cells from each patient, as HipSci has done. Our sharing policy ensures researchers across the globe freely have access to this cell and data resource to build upon. The cells can easily be obtained from two cells banks: the European Collection of Authenticated Cell Cultures (ECACC), a Culture Collection of Public Health England; and the European Bank for induced pluripotent Stem Cells (EBiSC). The data can be accessed by bona fide researchers through our website http://www.hipsci.org.

HipSci has therefore opened the door and provided opportunities to further research on rare diseases. Our hope is that this resource is exploited globally to maximise the chances of progressing our knowledge, and therefore the potential of therapeutics, not only for the rare diseases in our collection, but also to help provide insights into rare diseases in general.

 

[1] The term used to describe cells that have the potential to become several different cell types.

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