Project Detail
Análise e correlação entre o genoma completo e a actividade cerebral para a ajuda no diagnóstico da doença de Alzheimer
Dates and Lifetime
From: 2017-06-15 To: 2020-12-31
Duration: 43 months


AD-EEGWA - "Análise e correlação entre o genoma completo e a atividade cerebral para a ajuda no diagnóstico da doença de Alzheimer"





























Alzheimer Portugal – Delegação Norte





The aim of this project is the development of a bioinformatics tool to aid in the diagnosis of Alzheimer's disease, allowing an early detection and a better characterization of its different stages. This tool will combine genetic data (buccal mucosa samples) and brain activity (electroencephalographic recordings). Both are non-invasive and painless techniques. The tool will base its accuracy on the correlation between the genetic information and the electrical activity of the brain.


Specific objectives


Representative sample

The sample, collected from different places in the North of Portugal and Castile and Leon, will be representative for each stage of Alzheimer's disease: (i) Mild cognitive impairment (MCI); (ii) Mild stage of Alzheimer's disease; (iii) Moderate stage of Alzheimer's disease; (iv) Severe stage of Alzheimer's disease. Also, control subjects will be analysed to be compared with dementia patients. Brain activity, genetic information, and clinical data will be analysed for all patients and control subjects.


Associated genomic regions

The aim is to detect genomic regions that differ significantly between different hierarchies of patients, in order to correlate them with brain activity recordings and the clinical history of patients. Special attention will be given to those genomic areas that contain genes that have been associated with Alzheimer's disease in populations of caucasian origin (ApoE, CR1, BIN, CLU, PICALM, MS4A4/MS4A6E, CD2AP, CD33, EPHA1, and ABCA7).



From the genetic data and the brain activity, a tool that will help in the diagnosis of Alzheimer's disease will be developed. For this purpose, patients and controls will be characterized, and the topographies obtained in the analysis of the collected signals will be compared, applying two complementary strategies: clustering and phylogenetic networks.


Expected results

The overall results expected from the project are the following:


Result #1

Increase of the number of researchers in the region of Castile and Leon - North of Portugal.


Result #2

Improvement of the equipment needed for the study of Alzheimer's disease at the project partners: computer equipment, portable EEG equipment, collection system of biological material, DNA extraction kits and associated laboratory material, etc.


Result #3

A new database consisting of DNA samples, EEG recordings and clinical and sociodemographic data of 250 subjects, divided into five categories: severe Alzheimer's disease, moderate Alzheimer's disease, mild Alzheimer's disease, mild cognitive impairment and control, residents of both the regions involved in the project.


Result #4

Genotypic results from the participants in the project with a high scientific value, as well as characteristics of their neuronal activity.


Result #5

Publication of the obtained results in journals and conferences of national and international relevance.


Innovative procedures


Related genomic regions

Search for genomic regions that can be linked to Alzheimer's disease by analyzing sets of patients and controls, as well as the relation between the genetic diversity of these regions and the clinical aspects of the patients.


Brain activity

Identification of brain activity alterations and their relationship with the stages of the disease.


Genetics and electroencephalography

Correlation of genetic and neuronal data to help in the diagnosis of Alzheimer's disease.



The proposed diagnostic tool is highly innovative, since it combines several kinds of technologies that are nowadays available to the scientific community independently, so they can synergistically improve the accuracy of inferences.



The main product derived from this project is the development of a new biomarker for the early diagnosis of Alzheimer's disease. This tool will be based on the obtained results from samples of saliva and EEG recordings analysed from patients and controls. It might achieve a high precision by means of the combination of genetic data and neuronal activity. Other products are the publication of the obtained results in journals and national and international conferences, and the development of a framework for the subsequent cooperation between the partners towards the expansion to new studies related with Alzheimer's disease and other neurodegenerative diseases.


Activities of the Project


Activity 1. Selection of subjects and data collection.

Selection of the sample that will participate in the study (250 subjects taken from both areas of project intervention, divided as follows: 150 patients with Alzheimer's disease at mild, moderate and severe stages, 50 subjects with mild cognitive impairment and 50 controls), plus a collection of their biological samples (buccal mucosa) and their brain activity (electroencephalogram, EEG).


Activity 2. Genome and brain activity analysis.

Obtaining the genetic profiles of the participants from the biological material collected in the previous activity, and analysis of the EEG recordings by means of advanced signal processing methods.


Activity 3. Correlation between the genome and the EEG.

Pattern identification by means of meta-analysis, providing assistance in the diagnosis of Alzheimer's disease. This will be carried out combining EEG signals and genetic data from all the participants in the study.


Activity 4. Conclusions.

Design of a tool to help in the diagnosis of Alzheimer's disease, based on the analysis carried out in the previous activities. Additionally, we will evaluate the possible exploitation of the aforementioned tool.


Activity 5. Management and coordination.

Coordination and supervision of each activity by the main beneficiary, each institution being responsible for their own actions.


Activity 6. Communication.

Participation in conferences to present the preliminary results of the project to the scientific community, publication of papers showing the final results in prestigious international journals, and preparation of communication material to make society aware of the progress of the project (website, social networks, preparation of seminars and press releases).


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