New scientific publication from the GR@ACE Project

Study finds six new genetic variants related to Alzheimer’s

• The prestigious journal Nature has released a scientific paper from Ace Alzheimer Center Barcelona that provides new data regarding genetics in Alzheimer’s disease

• The study uses around half million genetic samples from the consortium GR@ACE, GEDESCO, IAGAP, EADB and UKBiobank 

• This is the third article from the Genomic Research at Ace (GR@ACE) Project, driven by Grifols and  Fundación “la Caixa”, but due to the remarkable collaborations from the scientific team at Ace, the information generated in this program already appears in more than 10 international scientific papers

A study from Ace Alzheimer Center Barcelona, recently published in the prestigious Nature Communications magazine, has gathered all the known genes associated to Alzheimer’s disease giving, as a result, six new genetic variants related to Alzheimer’s in APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and SHARPIN genes.

In addition, the study made with the collaboration of the Amsterdam University Medical Center (VUmc) builds a polygenic risk variable that shows a difference in the disease start age between 4 and 5.5 years in patients carrying the APOE ɛ4, main disease risk factor.

Itziar de Rojas, pre-doctoral researcher in Ace Alzheimer Center Barcelona and main study author, thinks it is a step forward in “Alzheimer’s early diagnosis, because the polygenic risk punctuation and the apolipoprotein ɛ4 (APOE) association gives a good tool to select patients with subjective memory complaining and mild cognitive impairment who are in high risk of developing dementia”. “Furthermore”, she states, “thanks to the study results, we can keep deepening in the APP gene mechanisms in order to refine the amyloid cascade, main responsible in the senile plaque formation”.

To obtain these results, researchers have built an association of the complete genome from half a million Alzheimer’s patients by merging the data from the national consortiums GR@ACE (Genome Research at Ace) and DEGESCO (Dementia Genetics Spanish Consortium) and internationals consortiums such as IGAP (International Genomics of Alzheimer’s Project), EADB (European Alzheimer DNA Biobank) and UKBiobank.

This publication at Nature Communications is the third great article from the Genomic Research at Ace (GR@ACE) Project, but due to the Ace scientific team remarkable collaborations, the information generated within the framework of this program has been already published in more than 10 international research articles.

The study is part of De Rojas’ doctoral thesis, that focus on the study of Alzheimer’s genetic and molecular biomarkers. Thanks to her participation on the GR@ACE Project, the young researcher and doctoral candidate is investigating the association between Alzheimer’s genome and the definition of people in risk of developing dementia with the objective to develop early diagnosis.

“The fact that GR@ACE is still leading us to extraordinary new data and knowledge is the success of the 2 premises behind the project,” states Agustín Ruiz, scientific director of Ace Alzheimer Center. “First, the open-access mindset and research in collaboration will take us further and, second, the fact that non-hypothesis-driven type of research in the field of genetics was the right approach for Alzheimer’s.” 

A priority investigation project based on genomic technologies

The GR@ACE Project has as main objectives integrative bioinformatics, personalized medicine and identification of possible new treatments.

From a clinical point of view, the impact of genomic technologies regarding diagnosis and the ability of predicting it is proving to be highly important. In fact, experts consider that genetic characterization from Alzheimer’s patients will generate a change in the diagnosis model in the future.

During the GR@ACE Project first phase, a complete genome scan was made with the samples from the Ace collection that, with more than 10.000 blood extraction samples, is the largest in Europe.

GR@ACE, driven by Ace Alzheimer Center Barcelona since 5 years ago, has also the support from Grifols and Fundación “la Caixa”. Besides, this project has received financial grants from competitive funds from Instituto de Salud Carlos III and Centro de Investigación Biomédica en Red Enfermedades Neurodegenerativas (CIBERNED), as well as genetic samples from the Dementia Genetics Spanish Consortium (DEGESCO).