The foundation:

Fundació ACE participates in a study that uncovers 5 genes related to Alzheimer's


20 countries 300 centers. 400 authors. 94,000 genetic samples analyzed.

It is the largest Alzheimer's genetic study to date in the world and has been published recently in the journal Nature Genetics. This unprecedented study reveals that the metabolism of Tau protein, beta amyloid, inflammatory processes and lipid metabolism, would be related to Alzheimer's disease.

The study has a well-known Spanish participation through the GR@ACE project, a project of Fundació ACE with the support and encouragement of "La Caixa", GRIFOLS and the Instituto de Salud Carlos III. Fundació ACE added 8,000 samples to the study, practically 8% of the entire sample analyzed.

This valuable contribution by Fundació ACE has led to its inclusion in the select group of institutions that oversee this international research program in which 308 institutions from 20 countries and three continents participate (USA, France, UK, Holland, Belgium, Iceland, Spain , Finland, Germany, Switzerland, Ireland, Italy, Greece, Austria, Sweden, Poland, Canada, Australia and Portugal).


What does the study discover?

Alzheimer's disease is the most common type of dementia. It is triggered by the death of neurons and comes in two variants.

The so-called family variant is relatively rare, caused by certain mutations in the genome and manifested before age 65. The most common variant, the late onset, accounts for more than 90 percent of cases.

Despite being the most common, until now only 20 risk factors were known for this variant. In the study published this week, the international IGAP consortium confirms the existence of another 5 new genes.

These findings are an important contribution to understanding the causal basis of Alzheimer's disease and will open new treatment pathways for the disease in the future.

So far, researchers still do not know what role the new regions identified play. Some of these genes are related to the beta-amyloid protein and the tau protein that are known to be relevant to Alzheimer's disease.

This has already been pointed out by other researches, but with the new findings it seems that, both the management of fats and the management of the processes of inflammation, are important molecular routes to study to develop therapies.

"The next step is to investigate all these new genes in detail. Thanks to the GR@ACE project, new interesting results will soon come to light in the field of Alzheimer's genetics," says Dr. Agustín Ruiz, scientific director of Fundació ACE, principal investigator of the GR@ACE project and one of the main authors in this paper.


Large amounts of data

"The effort behind this study is enormously complex and requires the cooperation of many partners. We, in particular, provide clinical data on thousands of patients. Which means, in practice, many years of incorporating anonymous genetic data of people diagnosed in Fundació ACE with Alzheimer's disease," says Ruiz.

"European and American memory clinics played an important role," explains Dr. Mercè Boada, medical director of Fundació ACE. "It takes may years of work to be able to carry out a study like this. Since 1996 and through our memory clinic, we have diagnosed more than 25,000 people, many of them with memory disorders, to whom we have also provided follow-up. For years, through this, we have been able to build an extensive repository of genetic data that we have made available for study."


Fundació ACE is a member of the Center for Biomedical Research in the Network for the Thematic Area of Neurodegenerative Diseases (CIBERNED) and the DEGESCO consortium (Dementia Genetics Spanish Consortium).




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