UK Sickle Cell Gene Therapy Research Awarded $3.1M Grant

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by Steve Bryson, PhD |

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Researchers at the University of York in the U.K. have been awarded a $3.1 million (£2.3 million) grant to accelerate research supporting stem cell gene therapy to treat sickle cell disease (SCD).

The grant was awarded by the nonprofit Bill & Melinda Gates Foundation to track genetic changes in individual stem cells that give rise to various types of blood cells.

Sickle cell disease is an inherited blood disorder caused by genetic mutations that alter hemoglobin — the protein that carries oxygen in red blood cells. As a result, there are not enough healthy red blood cells to adequately supply the body with oxygen, leading to anemia.

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The disease is somewhat common in people with African or Caribbean origin. In some areas of sub-Saharan Africa, these genetic mutations occur in up to 20% of the population.

The grant builds on previous research at York that used newly developed technologies to identify genomic mutations occurring in blood stem cells that showed SCD itself could lead to an increase in genomic damage. The team also used these methods to find and track cancer-causing mutations resulting from stem cell gene therapies.

The goal of gene therapy in SCD is to replace the faulty hemoglobin gene with a functioning copy within blood stem cells, or hematopoietic stem cells. Before treatment, these cells are collected from patients, genetically altered, and then transplanted back into the patient, with the aim of restoring proper hemoglobin function.

However, the insertion of a new functional gene in blood stem cells can disrupt other genes, potentially leading to cancer, especially blood cancers such as leukemia.

“Since gene therapies have been previously associated with the potential for initiating leukaemia (a blood cancer that can rapidly kill patients), tracking these mutations in patients over time becomes incredibly important for their future health,” David Kent, PhD, from the York Biomedical Research Institute, said in a university press release.

Their current results will be presented at this year’s American Society of Hematology meeting in Atlanta.

The newly funded project will include collaborators at Boston Children’s Hospital, MRC Uganda, and Muhimbili University of Health and Allied Sciences in Tanzania.

“Our new partners in Uganda and Tanzania bring a critical new component to the table with larger well-characterised cohorts [groups] of sickle cell patients that will allow us to understand the underlying risks of large-scale gene therapy and stem cell transplantation with respect to leukaemia development,” Kent said.

The project will also utilize new stem cell tracking technologies developed by York researchers and the Wellcome Sanger Institute in Cambridge, U.K.

“The teams in Boston and at the Wellcome Sanger Institute in Cambridge have been absolutely instrumental in this project — none of this gets achieved without bringing together international teams of experts,” Kent added.

“We are really excited by the opportunity to expand our studies to gather more robust real world data for leukaemia-related mutations in sickle cell patients,” said lead researcher Alyssa Cull, PhD, also from the York Biomedical Research Institute.

Early last year, two clinical trials evaluating an investigational gene therapy in SCD were paused when two participants developed certain types of blood cancer. Since then, trials resumed when it was concluded that these cancers were not likely to be related to treatment.