The aim of this project is the development of a bioinformatics tool to assist the diagnosis of Alzheimer's disease, allowing an early detection and a better characterization of the different Alzheimer stages. This tool will combine genetic data of buccal mucosa samples and brain activity (electroencephalographic recordings). The project has been approved by the Ethical Committee of the University of Porto (Portugal). The AD-EEGWA project is co-financed by the European Regional Development Fund (ERDF) through the Interreg V-A Spain-Portugal Program (POCTEP) 2014-2020.
The Institute of Molecular Pathology and Immunology (IPATIMUP) of the University of Porto was founded in 1989 and has consolidated a position as an international reference in disease research. IPATIMUP research is focused on the study of biological mechanisms of complex diseases, early diagnosis methods, decreasing the incidence of different diseases, increasing treatment effectiveness and, consequently, improving the quality of life of the patients.Nádia Pinto – email@example.com
The Biomedical Engineering Group of the University of Valladolid is a multidisciplinary group, mainly formed by Telecommunication Engineers and Doctors of different specialties (pneumology, neurology, psychiatry, neurophysiology, and ophthalmology). Its members have a wide experience in brain signal processing to help the diagnosis of different neurological diseases.Roberto Hornero – firstname.lastname@example.org
The Alzheimer Association of Zamora aims to increase the quality of life of people affected by dementia, as well as their families. Since its foundation in 1996, the Association has experienced a continuous growth, currently owning two centres specialized in dementia care, numerous assistance programs and an adapted transport service.Manuel Figueruelo – email@example.com
The Alzheimer Association of Portugal (North branch) has a wide experience dealing with relatives and patients with Alzheimer's disease and other dementias. This centre has staff with the necessary skills to properly attend Alzheimer's disease patients, along with family members and caregivers; such as a clinical psychologist specialized on geronto-psychology and an occupational therapist with wide experience on people affected by dementia.Ana Taborda – firstname.lastname@example.org
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.
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.
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.
Increase of the number of researchers in the region of Castile and Leon - North of Portugal.
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.
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.
Genotypic results from the participants in the project with a high scientific value, as well as characteristics of their neuronal activity.
Publication of the obtained results in journals and conferences of national and international relevance.
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.
Identification of brain activity alterations and their relationship with the stages of the disease.
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.
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).
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.
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.
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.
Coordination and supervision of each activity by the main beneficiary, each institution being responsible for their own actions.
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).
Gómez et al. (2017)
Journal of Alzheimers Disease
Martins et al. (2018)
18th Meeting Portugaliae Genetica
Martins et al. (2017)
Alzheimer's Global Summit
I Jornada de Investigación en Biongeniería y Medicina