Today, the event “Advances in Ataxia Telangiectasia” took place, organized by the Institute of Bioengineering of Catalonia (IBEC) in collaboration with AEFAT, the Spanish ataxia-telangiectasia family association. The gathering brought together patients’ families, researchers, and clinicians to explore the latest advancements in the research and the clinical management of ataxia telangiectasia.
The event “Advances in Ataxia Telangiectasia” took place today, organized by the Institute of Bioengineering of Catalonia (IBEC) in collaboration with AEFAT, the Spanish ataxia-telangiectasia family association, which brings together families affected by ataxia telangiectasia (AT) in Spain, a rare disease that affects at least 40 children and young people in the country.
The meeting, held at the Barcelona Science Park (PCB), gathered patients’ families, researchers, and clinicians with the aim of informing about the research projects recently awarded by AEFAT. It provided a space for reflection to delve into the latest advances in the clinical management of ataxia telangiectasia.
IBEC is committed to collaborating with patients through patient associations to be able to study different rare diseases.
Teresa Sanchis
The day began with a small aperitif and a welcome to the attendees by Teresa Sanchis, Head of Strategy at IBEC, who gave an overview of the research carried out at the center and the initiatives to communicate it to society. “IBEC is committed to collaborating with patients through patient associations to be able to study different rare diseases,” said Sanchis.
Next, it was the turn of Núria Montserrat Pulido, who played a key role as a link between IBEC and AEFAT, leading the organization of the conference. Her position as a principal investigator at IBEC and beneficiary of one of the research projects funded by AEFAT has been the basis of this collaboration. The Montserrat project, entitled “Modelling Ataxia Telangiectasia pathogenesis and therapeutics using human pluripotent stem cells and genetic engineering,” aims to develop organoids from patients’ cells that allow gene editing processes to be tested for different mutations and create a platform for drug testing.
When this project ends, our goal is to make the tools developed available to others, allowing them to use and improve them.
Núria Montserrat
In the words of Núria Montserrat: “When this project ends, our goal is to make the tools developed available to others, allowing them to use and improve them. Our goal is to contribute to the constant progress in research into ataxia telangiectasia and similar diseases, ensuring that the information obtained is available to patient associations.”
The conference continued with the intervention of other researchers who presented the work they carry out within the research projects of AEFAT. Among them are Marc Güell, Principal Investigator of the Translational Synthetic Biology group at Pompeu Fabra University (UPF), and Roberto Bilbao, scientific director of the Basque Biobank, Basque Foundation for Health Innovation and Research (Bioef).
The event was also attended by Jordi Surrallés, director of the Research Institute of the Hospital de la Santa Creu i Sant Pau, and Alejandra Darling, pediatric neurologist at SJD Barcelona Children’s Hospital, who provided the clinical vision.
Finally, the day concluded with the emotional testimonials from some of those present, sharing their personal stories with ataxia telangiectasia and expressing gratitude for the research work carried out. After the closing ceremony, attendees had the opportunity to visit the IBEC facilities to learn about the laboratories where Núria Montserrat’s project will be conducted.
This event exemplifies IBEC’s commitment to working closely with patient associations, promoting research projects focused on their real needs. This comprehensive approach not only strengthens the connection between scientific research and the affected community but also creates a valuable context for the development of innovative solutions and effective therapies.
