The technology under development seeks to establish a "molecular signature" (a set of genes that can be used as markers of Alzheimer's dementia), which can be used to predict the genetic risk of late-onset sporadic Alzheimer's disease (LOAD) in Argentina, laying the genomic basis for a personalized treatment of the disease and then adapting it to other populations. In the future, we will be able to advance in the design of a device with a chip that analyzes saliva samples in people older than 50 years, obtaining results on the probability of a patient to develop/get this disease.
Applications
The main use of having a predictor test of Alzheimer's disease will help physicians to design and implement more effective clinical monitoring according to the genetic makeup of the patient, and may delay up to three years the onset of Alzheimer's disease in the patients at high risk of getting it. For example, neurologists may improve the diagnosis of patients with cognitive disorders and may implement prophylactic interventions in individuals with high genetic risk factors to get LOAD, before clinical symptoms appear. Moreover, this tool can promote therapeutic optimization, helping the development of pharmaceutical products with better efficacy and safety. The "genomic medicine" is an area that is growing worldwide in order to integrate the diagnosis, prognosis, treatment and prevention, which will be adapted to the personal genetic and phenotypic information, where the treatments are designed according to each patient and the medical diagnostic tests are substantial to contribute to a better quality of life for the patient. Today, the complete genomes and the identification of their genotype are interpreted for the study of their biological relevance; the integration of the complete genome sequencing will be a standard in health care.
Advantage
Today a validated genetic biomarker for Alzheimer's disease is commercialized, it is the e4 allele of the Apolipoprotein E gene (APOE4), whose positive predictive value is around 40 %. Therefore, in the absence of the existence of technologies that can provide more precise answers to this need, there are worldwide research and development projects that seek to establish "molecular signatures" which increase this positive predictive value and improve diagnosis and prognosis of the disease. This is one of the main discoveries in health regarding this type of disease and, from genomics, a range of possibilities opens up. This project aims to increase this predictive value and define the molecular signature to develop the first predictive test that determines the genetic risk of developing AD in the Argentine population with greater precision and efficiency.
State of development
The technology project is in the Proof of concept stage = Technology Readiness Level (TRL) = 3
Researchers and Institutions
Dr. Laura Morelli, Dr. Carolina Dalmasso (FIL-CONICET); Dr. Luis I. Brisco, Dr. Daniel Politis (UBA- CONICET) FIL-UBA-CONICET
