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ICREA research professor Núria Montserrat. Image / IBEC.

Organoids to study and develop innovative treatments for ataxia telangiectasia

Núria Montserrat Pulido, principal investigator at IBEC, based in the Barcelona Science Park, will lead a project to study Ataxia telangiectasia thanks to funding from AEFAT, the association that brings together families affected by ataxia telangiectasia in Spain,. The work is aimed at obtaining cells with the patient mutations, develop organoids, explore the possibility of gene editing processes for different mutations and create a platform for drug testing.

IBEC joins AEFAT on its commitment for researching this rare disease that impacts at least 40 children and young individuals in the country. The collaboration is though the project “Modelling Ataxia Telangiectasia pathogenesis and therapeutics using human pluripotent stem cells and genetic engineering”, led by Núria Montserrat Pulido, ICREA research  professor, and principal investigator of the Pluripotency for organ regeneration group at IBEC.

Dr Montserrat’s project is one of the two selected by the Scientific Committee of the AEFAT in its second international call for research projects to find a cure or treatment for this genetic, neurodegenerative and multisystemic disease, poorly researched, with no cure or treatment.

The project aims to obtain iPSc cells with the patient mutations, develop organoids, explore the possibility of gene editing processes for different mutations and create a platform for drug testing.

As detailed by Núria Montserrat, “our collaborative project aims to establish new cellular models to understand ataxia telangiectasia, caused by mutations in the ATM gene. We will use genetic engineering and cell engineering to generate cells with causal mutations of the disease and, on the other hand, generate different types of cells and tissues affected in these patients. For this second objective, we will establish cultures called organoids, which are cellular systems that we can generate in the laboratory that resemble the organ we want to study.”

The goal, as highlighted by the biologist and researcher, “is to create a cellular platform to study processes that are important during ataxia telangiectasia, and what is also crucial, we will be able to exploit this cellular platform to test vectors and therapeutic compounds that allow us to correct defects in cells and mini-organs created in the laboratory due to the presence of mutations in the ATM gene”. Additionally, “we will incorporate the participation of infrastructure such as the Biomodels and Biobanks Platform of the Carlos III Health Institute, through which we will ensure the incorporation and custody of biological samples from the project. And we have the collaboration of Jordi Surrallés, a doctor in genetics and director of the Research Institute from Hospital Santa Creu i Sant Pau”.

For the efficiency of this project, AEFAT has connected the team with international researchers working in the same field and other professionals who have participated in projects financed funded by the charity, such as Marc Güell (Pompeu Fabra University, Barcelona).

The new projects are valued at 150,000 euros each, with a duration of 18-24 months. Aefat’s investment effort has been supported by contributions from associations in other countries, specifically two of the nine that form the A-T Global Alliance, an alliance established in 2020 to advance international research and awareness. The English association Action for A-T and the Australian association BrAshA-T are collaborating in financing these two new projects initiated from Spain.

» Link to the news: IBEC webiste [+]