DBA UK Funding CRISPR Gene Research

Hello to all our DBA UK Patients, Families and Friends, we wanted to update you regarding some exciting research we have agreed to fund. Firstly though, a note from our Chair, Leisa Batkin –

“For every cake baked… race ran…. river swam….
For every raffle, ball and gala.
For all that our fundraisers have done, we have been busy behind the scenes.
We have been working with the Euro DBA Consortium and after ratification and careful consideration we have been able to fund a brilliant piece of research for all of us.
We couldn’t have done this without you all raising money.
So, even though the scientists will do the work, you have played a brilliant part.
Because without you it wouldn’t happen.
This is the reason we are here and I hope you all walk tall today.
Keep pushing hard at the fundraising… there is more work to be done.”

DBA UK is pleased to announce funding for a project entitled, “Utilising CRISPR-Cas9 to specifically edit the most commonly mutated gene in DBA, the ribosomal protein (RP) S19 gene.”

A €100,000 (~£78,300) grant, over 2 years, was awarded to Alyson MacInnes, Ph.D, Alyson is a senior cell and molecular biologist at the Academic Medical Center in Amsterdam.

Alyson MacInnes

Dr. MacInnes has had a long standing interest in Diamond Blackfan Anaemia. Alyson’s research interests include Hematopoietic diseases linked to mutations affecting the ribosome and she is a founding member of EuroDBA, a consortium set up in 2012 with funding from the European Union E-RARE commission. EuroDBA brings together the researchers and clinicians in Europe to combine powers to understand the underlying mechanisms of Diamond-Blackfan anaemia (DBA).

CRISPR-Cas9 is a revolutionary gene editing technique that has been developed to allow site-specific repair of defective genes. Dr MacInnes and her team will use this technique to repair the RPS19 mutation in patient skin cells (fibroblasts). The repaired skin cells will then be de-differentiated to an inducible stem cell (iPSC) state and stored for future use when they will be grown into cells for bone marrow transplants. Since these iPSCs will have been derived from the recipient, they expect to reduce or completely eliminate the risk of graft rejection. Post proof of principle, Alyson’s team will continue with the repair of other gene mutations.

The project will establish important groundwork for a straightforward system that will potentially benefit and cure the majority of DBA patients. There will be 3 major phases for the project, each lasting 1-2 years.

Dr. MacInnes stated, “We are honoured to be supported by DBA UK for the initiation of this exciting project. Our lab has had a long-standing interest in determining the molecular mechanisms of ribosomal protein genes mutations and how they lead to the phenotypes of DBA. This new phase of research will take advantage of novel techniques in gene editing that should pave the way for therapy options for DBA patients that are safer and more effective than traditional bone marrow transplants. We are especially enthusiastic to bring together closer ties between DBA UK and the EuroDBA consortium. We believe this level of international cooperation and collaboration is the best weapon in the fight against rare diseases such as DBA.”

DBA UK appreciates Dr. MacInnes hard work and interest in Diamond Blackfan Anaemia and is grateful for our members continued support to enable us to fund this important project!


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