What do we do:
Genomic research

Dr. Agustín Ruiz, Research director

"The main objective of our genomic research group is to understand the causes of Alzheimer's disease and other dementias by integrating genetic, transcriptomic and proteomic data."

GScholar

The gene bank of Fundació ACE is considered one of the largest in the world in the field of dementia, with more than 20,000 samples stored.

Thanks to the existence of this collection, the genomics laboratory of Fundació ACE presents two lines of research focused on:

1) The search for new genetic targets for the treatment of Alzheimer's disease. GR@ACE project.

We have identified 40 genetic risk factors linked to Alzheimer's. However, these findings are still insufficient to establish the exact mechanism by which this disease is generated.

2) The study of the molecular mechanisms of the APOE gene, the main genetic risk factor for Alzheimer's disease. ADAPTED project.

Apolipoprotein Ԑ4 (APOE) is the main genetic risk factor for Alzheimer's. It is present in 45% of the cases although it is unknown how it intervenes in the development of the pathology. The ADAPTED project, designed and led by our team, uses avant-garde technologies, such as the use of genetically modified stem cells, to discover the mechanism of the APOE gene.


On-going projects

GR@ACE - Genomic Research at Fundació ACE

Obra Social la Caixa, Grifols, Instituto de Salud Carlos III & Fundación ACE

The GR@ACE project is a human genetics study aiming to discover new genes that cause Alzheimer's and use this information to propose new treatments to face the disease.

EXIT - Exosomes Isolation Tool with nanofluidic concentration Device

EuroNanoMed III & Instituto de Salud Carlos III

This research project uses technological advances in the field of nanotechnology and the separation of nanoparticles for the early clinical diagnosis of Alzheimer's disease.

ADAPTED - Alzheimer’s Disease Apolipoprotein Pathology for Treatment Elucidation and Development

European Comission (H2020-JTI-IMI2-2015-05)

ADAPTED is a project that investigates the biological mechanisms through which the presence of the APOE gene increases the risk of developing Alzheimer's.

Fundació ACE-Barcelona Alzheimer Treatment & Research Center Foundation has been chosen by the European consortium Innovative Medicines Initiative (IMI) to lead the ADAPTED (Alzheimer's Disease Apolipoprotein Pathology for Treatment Elucidation and Development) research.

In view of the lack of drugs that slow down the progress of the disease, ADAPTED is opening a new line of research on the origin of Alzheimer's. The aim of the study is to systematically address APOE as a possible treatment target. The APOE gene is a known risk factor for the disease, but it has so far received less attention from researchers than other targets.

In particular, the behaviour of the APOE gene in the onset of Alzheimer's is unknown, as this gene is involved in a higher propensity to contract the disease. This lack of understanding of how it works has meant that, until now, this gene has been largely ignored in the search for treatments.

With a budget of 7 million euros, the intention of this study, which extends the traditional lines of research on Alzheimer's and which is coordinated by Fundació ACE, is to identify how APOE increases the risk of suffering from Alzheimer's and, in this way, to enable the development of new drugs.

With ADAPTED, Fundación ACE becomes the first Spanish entity to be chosen to coordinate, at the same time, two European researches on the origin of Alzheimer. It should be remembered that the IMI has also chosen the entity to coordinate another European study whose purpose is to identify effective mechanisms for the early detection of Alzheimer's (MOPEAD).

Gene present in 45% of cases

The APOE gene is present in more than 45% of Alzheimer's cases and, for this reason, according to Dr. Agustín Ruiz, Research Director at Fundació ACE, "understanding the function of APOE is a major scientific challenge". Ruiz points out that "if the project is successful, the treatment and prevention of Alzheimer's disease will enter a completely new era of drug and therapy identification".

Currently, through a DNA analysis, it is possible to observe the behavior of this gene and identify the percentage of risk a person has of suffering from Alzheimer's. For example, an individual with two copies of the gene's epsilon 2 allele would have a 6% chance of developing the disease. However, someone with two copies of another variant of the gene (the epsilon 4 allele) would have more than 50%.

Since its inception, the accumulation of beta-amyloid protein in the brain has been considered one of the causes of the appearance of the disease. Work on this thesis will continue in the exploration of the protein, in parallel with the genetic research that opens with the new study.

Estudio de variantes raras en genes asociados a Enfermedad de Alzheimer en la población española

Instituto de Salud Carlos III

This project wants to study in depth and detect rare genetic variants associated with Alzheimer's. This is the first genomic study conducted in our country to address this issue specifically in Alzheimer's disease.