REPROCELL – Establishing a research stem cell bank for inherited genetic disorders

The NIHR BioResource and three of our rare disease volunteers have supported a study that aims to aid in the discovery and development of new drugs and potential treatments for many common and rare diseases.

Study background

Biotech company REPROCELL Inc., one of the leaders in stem cell research, first approached the NIHR BioResource in 2018 wanting to recruit volunteers with a diagnosis of one of the rare inherited retinal eye diseases such as retinitis pigmentosa (RP) and disease-associated genetic mutations to take part in their project.

Recruitment of eligible volunteers began in 2019 with one volunteer consenting to take part and completing the study that year. After a three-year pandemic delay, recruitment continued and two additional volunteers were identified and invited to take part, joining the study in late 2022 and early 2023.

Out of those Rare Disease BioResource volunteers we contacted, 78% said they would like to take part, which was an excellent response rate. REPROCELL’s requirements were to receive three samples from each disease group and from one volunteer per genotype.

Image of an IPSC Culture Stained for Markers Nanog and TRA160
IPSC culture stained for markers nanog and TRA160

This study was one of the first clinical recall studies that the national NIHR BioResource recall team facilitated using a rare disease cohort of patients recruited to the Rare Diseases BioResource at Moorfields Eye Hospital, one of 18 local BioResource centres across England. It focused on the use of whole genome sequencing data to identify patients with inherited vision disorders who had the specific gene markers of interest.

The BioResource recall team set about contacting eligible patients, inviting them to attend an appointment with our clinical team, where they provided a skin biopsy sample. The samples were sent via courier to REPROCELL laboratories based in Glasgow in specialist tissue culture medium, to be used to generate induced pluripotent stem cell (IPSC) lines. These can be used as a research tool in downstream studies investigating the disease, drug discovery and pre-clinical evaluation.

Ejaz Ansari, Study Director and Laboratory Manager
Ejaz Ansari, Study Director and Laboratory Manager - REPROCELL

IPSCs are made (reprogrammed) from everyday cells found in either blood, skin or urine.  They have the ability to grow continuously and can be grown under special conditions in the lab – referred to as differentiation - to make other types of adult cells like eye, heart and brain cells.  Effectively, this means it's possible to repeatedly create multiple different cell lines from one sample collection for use in research investigations.  

Ejaz Ansari, said: 

“Our experience of working with the Bioresource has been very positive. The team have been professional and friendly in their approach and attentive not only to the needs of the volunteers but also to our specific research requirements.

"This has enabled the successful generation of primary cell lines from all 3 donor donations, and these are all now at various stages of being reprogrammed to make iPSC lines.

"We anticipate that once the lines are fully assessed and investigated, they will form the basis of a key drug discovery tool to help identify potential new treatments.”

Benefits of this study to researchers

This reprogramming technology offers several advantages for researchers which include:

  • the ability to generate several different cell types from one iPSC culture.
  • the potential to study many different diseases (common and rare) and their treatment.
  • tissue regeneration capabilities.
  • an ethically non-controversial strategy to generate patient-specific stem cell lines

This research will further our understanding of the biology of the retinal disease and may lead to the development of potential treatments for the major causes of blindness.

Scientist in blue and white gown and blue gloves using an IPSC Line with samples
IPSC Line culture

Volunteer experiences and feedback

All three patients who participated had Usher syndrome, a rare genetic condition that causes hearing and vision loss from retinitis pigmentosa. To facilitate participation, the BioResource provided British Sign Language (BSL) interpreters to ensure that the consent process was as inclusive as possible.

Without access to medical information relating to the degree of the volunteers’ sight and hearing loss prior to the study visit, it was important to confirm their preference in how best to communicate with them. Most pre-visit communication was achieved via email with one volunteer requesting a Zoom call, something that was valuable as a relationship-building tool with that volunteer and helped to plan a successful study visit.

Volunteers and even the BSL interpreters shared some positive feedback on taking part, including being “impressed by the standard of the consenting process” and that it was “very much focused on the individual, despite the interpreter being there”, with the focus being “speaking to the person and not just the interpreter.”

The BioResource and particularly the clinical team pride ourselves on Volunteer experience and this study was no exception, resulting in volunteers positively experiencing research, tailored to their requirements and were glad to be able to assist in research related to their disease.

For more information on this study, please visit our studies page.

If you are interested in working with the NIHR BioResource to support your research, as the research team did in this story, please get in touch. 

If you are interested in volunteering with the NIHR BioResource to be part of future research studies we support, we’d love to hear from you.

You can keep up to date with the NIHR BioResource on Twitter and LinkedIn. 

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