UC joins European project to help develop targeted treatments for autism
The project aims to create a platform to facilitate recruitment for future clinical trials and the development of personalised treatments. In Portugal, volunteers may register until March 2025.
A team of researchers from the University of Coimbra (UC) is involved in the European Autism GEnomics Registry (EAGER). The project aims to collect genetic data by 2025 to create a long-term platform that will facilitate clinical trials in autism and the subsequent development of targeted treatments.
Given the diversity of genetic profiles among people with autism, EAGER scientists believe it is essential to create a registry of genetic information from different individuals. They believe that this platform will be able to drive future, more personalised clinical trials, while increasing knowledge of the genetic conditions associated with autism.
The genetics of autism are highly complex, and there is still a lack of reliable biomarkers for the diagnosis or prognosis of this neurodevelopmental disorder. Miguel Castelo-Branco, Professor at the UC Faculty of Medicine (FMUC) and Director of the Coimbra Institute for Biomedical Imaging and Translational Research (CIBIT) at the Institute of Nuclear Sciences Applied to Health (ICNAS), is leading the study at UC, explains: " There is increasing evidence of the need for personalised clinical approaches. Therefore, the comprehensive collection of genetic and clinical data will be critical to the development of new therapeutic responses for this condition.”
The EAGER research team is creating a database of participants from several European countries, with volunteer participation currently underway in Portugal. People with a diagnosis of Autism Spectrum Disorder (ASD) and individuals with an informal diagnosis – e.g., those who identify with the diagnosis but have not yet had it validated by a healthcare professional – are eligible to participate.
Participants in the study will be asked to provide saliva samples for genetic analysis (remotely), as well as answer a series of online questionnaires on mental and physical health, quality of life, and share their thoughts on research priorities in this field. Volunteers can register until March 2025 by contacting the UC team directly at icnas@uc.pt.
In addition to creating a registry of participants' genetic information to support clinical trials and tailored interventions, the project aims to investigate the relationship between genetics and outcomes such as mental and physical health and quality of life in autism.
The project is funded by the Innovative Medicines Initiative (a private partnership between the European Commission and the European Federation of Pharmaceutical Industries and Associations under the Horizon 2020 programme) and led by King's College London, and brings together 13 research teams from eight countries – Germany, Spain, France, Ireland, Italy, Portugal, the UK, and Sweden.
‘EAGER’ originated as part of Autism Innovative Medicine Studies-2-Trials (AIMS-2-TRIALS), the largest consortium dedicated to autism research in Europe, of which UC is a member. It has been investigating the biology of autism since 2018, aimed at developing new targeted therapeutic strategies. Miguel Castelo-Branco stresses that "the impact of this project is already visible in the way it has brought together clinicians, researchers and people with autism, and also in the non-academic investment it has attracted, making it one of the largest public-private partnerships in the world in the context of life sciences."
At the University of Coimbra, the project involves researchers from the Faculty of Medicine, the Coimbra Institute for Biomedical Imaging and Translational Research, and the Institute of Nuclear Sciences Applied to Health.