A study by Ace Alzheimer Center Barcelona recently published in the journal Nature Communications has identified six new genetic variants involved in Alzheimer's disease. These results have emerged from an analysis involving all known genes in half a million genetic samples.
In addition, the study has developed a scale to assess the risk of developing the disease and, by applying it to people with the APOE ɛ4 gene, which is the main risk factor for dementia, the study has been able to determine that those who score high on this scale would develop Alzheimer's disease up to five and a half years earlier.
For Itziar de Rojas, pre-doctoral researcher and lead author of the study, this research is a step forward "in the early diagnosis of Alzheimer's disease, as we can establish whether people are at high risk of developing dementia by analysing their genetics". In addition, she adds, "thanks to this study we will be able to further explore the mechanisms of another of the genes related (APP) to the accumulation of amyloid in the brain, one of the main causes of dementia".
To conduct this study, researchers have made an association of the complete genome of around half a million people with Alzheimer's disease by merging data from the national consortia GR@ACE (Genome Research at ACE) and DEGESCO (Dementia Genetics Spanish Consortium) and international consortia IGAP (International Genomics of Alzheimer's Project), EADB (European Alzheimer DNA Biobank) and UKBiobank.
This publication in Nature Communications is the third major article in the Genomic Research at Ace (GR@ACE) project, promoted by Grifols and the "la Caixa" Foundation, although thanks to the outstanding collaborations of Ace's scientific team, the information generated by this programme has already appeared in more than 10 international research articles.
The study forms part of Itziar De Rojas' PhD thesis, which focuses on the study of genetic and molecular biomarkers of Alzheimer's disease. Thanks to her participation in the GR@ACE project, the young researcher and PhD candidate is investigating the association of the genome with Alzheimer's disease and the definition of profiles of people at risk of developing dementia with the aim of facilitating early diagnosis.
According to Dr. Agustín Ruiz, geneticist and scientific director of Ace Alzheimer Center Barcelona, this study will generate a lot of traction and interest in this field of research. "Molecular biologists will study the mechanisms behind the new variants and bioinformaticians will use the available results to better understand the disease".
Agustín Ruiz, principal investigator of the GR@ACE project together with neurologist Mercè Boada, adds that "the extraordinary success of GR@ACE in generating new data and knowledge is deeply rooted in our collaborative and open-access mentality. But, in addition, this article corroborates that exploring the genomes of thousands of people in a hypothesis-free approach has proven to be the right direction to expand knowledge about the genetics of Alzheimer's disease".
Ruiz stresses that the project continues to provide more data to analyse for Ace's scientific team, the national DEGESCO consortium and a multitude of international collaborators: "The continued expansion of the project will lead to important insights, either by us or by our collaborators, precisely because of the 'open-access' approach that our organisation has upheld from the beginning".
The GR@ACE project aims at integrative bioinformatics, personalised medicine and the identification of new potential treatments.
From a clinical point of view, the impact of genomic technologies on diagnosis and the ability to predict it is proving to be of great importance. In fact, experts believe that the genetic characterisation of Alzheimer's patients will lead to a change in the diagnostic model in the future.
During the first phase of the GR@ACE project, a complete genome scan was performed with the existing samples in Ace's collection, which, with more than 10,000 blood collection samples, is the largest in Europe.
GR@ACE, which has been promoted by Ace Alzheimer Center Barcelona (formerly the ACE Foundation) for more than five years, is also supported by Grifols and the "la Caixa" Foundation. In addition, this genomic research project has received five direct grants from competitive funds from the Carlos III Health Institute and the Centre for Biomedical Research in Neurodegenerative Diseases Network (CIBERNED).
Ace Alzheimer Center Barcelona, an innovative and benchmark institution in Spain, was founded in 1995 with the aim of meeting the growing demand for the diagnosis and treatment of people with cognitive impairment and dementia, especially Alzheimer's, by offering personalised care and comprehensive support to patients and their families. Ace is considered one of the international benchmarks in research, especially in clinical, neuropsychological, social and basic research.
Each year, its Diagnostic Unit treats around 8,000 people, of whom more than 4,000 suffer from dementia (3,000 of them Alzheimer's type). Among other research activities, Ace Alzheimer Center Barcelona participates in numerous clinical trials with worldwide participation aimed at all stages of the disease. It is precisely because of its position as an international benchmark that it has led two IMI research projects awarded by the European Union on Alzheimer's genetics (ADAPTED) and on models of patient participation (MOPEAD).