Núria Montserrat, ICREA Research Professor at the Institute for Bioengineering of Catalonia (IBEC), has been awarded two significant grants totaling 50,000 euros. These funds are intended to support an innovative project aimed at advancing research on Ataxia Telangiectasia, a rare disease that affects children, manifesting before the age of two and causing severe progressive physical disability.
Aefat, the association that brings together families affected by ataxia telangiectasia in Spain, managed these grants from the FEDER Foundation (Spanish Federation of Rare Diseases) and the Inocente Inocente Foundation. Each foundation contributed 25,000 euros to support the research that Núria Montserrat and her team have been conducting since January at IBEC.
The project, “Modelling Ataxia Telangiectasia Pathogenesis and Therapeutics Using Human Pluripotent Stem Cells and Genetic Engineering,” aims to use genetic and cellular engineering to create iPSc cells with the specific mutations found in patients. This approach will enable the development of brain organoids and explore potential gene-editing processes for various mutations. Additionally, the project seeks to establish a platform for drug testing, facilitating the evaluation of potential therapeutic treatments before clinical trials in patients.
Brain organoids, created in the lab to replicate damaged cells and tissues in patients with ataxia telangiectasia (A-T), represent a significant advancement in research. These models expedite the process of testing new therapeutic compounds, which could improve the quality of life for affected individuals. The ambitious project involves collaboration with the Plataforma de Biomodelos y Biobancos del Instituto de Salud Carlos III, Dr. Jordi Surrallés from the Sant Pau Hospital Research Institute, and researcher Marc Güell from Universitat Pompeu Fabra.
This project was one of the seven selected by the FEDER Foundation in its VIII call for rare disease research funding, standing out among 52 proposals. Additionally, the Inocente Inocente Foundation recognized the project’s value in its funding call for organizations working with minors affected by rare diseases in Spain.
Aefat President Patxi Villén expressed gratitude for the support received: “Research never progresses as quickly as families would like, but we are extremely grateful for the support from organizations like the FEDER Foundation and the Inocente Inocente Foundation for these initiatives because they give us hope.”
Founded in 2009 and declared of public utility since 2014, Aefat continues to raise funds through various charitable activities and solidarity challenges to finance research projects and support families affected by ataxia telangiectasia in Spain. Since 2015, the association has invested over 660,000 euros in 12 research projects, both national and international, collaborating with similar organizations in other countries.
This financial support and ongoing commitment to research reflect the collective effort to find a cure or treatment for ataxia telangiectasia, providing hope to families affected by this genetic, neurodegenerative, and multisystemic disease.
ABOUT ATAXIA TELANGIECTASIA
Ataxia telangiectasia (A-T) is one of the 300 types of ataxias and causes severe progressive physical disability. It is a multisystemic disease that typically manifests before the age of two, although some affected individuals may not receive a diagnosis until up to 10 years later due to confusion with other conditions. It impacts the functions of various organs and leads to difficulties in coordinating movements, progressive loss of mobility (wheelchair use by age 9), speech difficulties, stunted growth, immunodeficiency, eating problems, skin and vision issues, pneumonia, and other complications. Due to the same mutation, patients are also more prone to malignant tumors (such as sarcomas, lymphomas, leukemias, etc.).
To learn in 2 minutes about ATAXIA TELANGIECTASIA (video explained by families and affected individuals from around the world):
