Genomics and Pharmacogenomics
In the field of R&D&I, the Genomics and Pharmacogenomics Area has different lines of research open based on the analysis of DNA sequence for predictive, diagnostic, and therapeutic purposes, in what is currently known as precision or personalized medicine.
The advancement of knowledge of the human genome allows us to identify new variants in the DNA of those individuals and family groups in which, generation after generation, a genetics-based disease manifests itself. Early detection of diseases, monitoring their evolution, and avoiding the application of standardised treatments, which in many patients are ineffective, make genetics and pharmacogenetics the key to improving the quality of life of our patients.
Genetics is the branch of medicine that studies the role that hereditary factors play with respect to a congenital defect, a disease, or the inherited susceptibility in the development of a disease.
Genetic testing involves analysing an individual's genes to determine their genotype. By knowing the genotype, the physician obtains crucial information to determine: (a) an individual's susceptibility to disease or resistance to disease (polygenic or multifactorial disease) and (b) the diagnosis of a disease (monogenic disease).
Genetic information offers new mechanisms to manage existing problems by identifying and analysing additional risk factors in complex diseases.
Nowadays, Genetics has become a very useful tool to understand the differences between individuals:
- In sickness:
- Prevention: Through the study of genetic variants of disease risk (Predictive Genetics).
- Diagnosis: Search for genetic mutations for diagnostic confirmation of either carrier or disease status in hereditary diseases (Clinical Genetics).
- Prognosis: Identifying genetic variants related to the ability to recover from the disease.
- Treatment: Identifying genetic variations responsible for individual differences in drug response (Pharmacogenetics).
- In health:
- Physiological, psychological, and intellectual capacity
- Nutrition and dietetics (Nutrigenetics).
- Sports performance (Sports genetics).
- Skin diseases and aging (Dermogenetics).
Thus, the main lines of research currently active in the area of Genetics and Pharmacogenetics are:
- Central Nervous System Diseases (Stroke, Alzheimer's, Parkinson's, Depression)
- Oncogenetics
- Pharmacogenetics
- Nutrigenetics
- Sport Genetics
- Dermogenetics
Parkinson's
Parkinsonism is defined as a clinical condition characterized by tremor, muscle rigidity and slowing of voluntary movements (bradykinesia). The most common form of parkinsonism is Parkinson's disease. The presence of psychiatric manifestations, such as depression and visual hallucinations, are common but are not invariably present. About 20% of cases of Parkinson's disease progress to dementia.
Genetic susceptibility is the probability that an individual has in developing a certain disease because of their genetic profile and external conditioning factors. Genetic testing for complex diseases determines an individual's susceptibility to a disease. Therefore, a test result only indicates that a person may be more likely than most people to have a particular disease, but it does not mean that he or she will get it, since that risk is conditioned by other variables.
To help with this, we design a personalised medical strategy based on the specific genetic profile of the individual that will adapt external conditioning factors such as diet and lifestyle (exercise, alcohol consumption, tobacco consumption, etc.) in addition to pharmacological treatment and the use of nutraceuticals or functional foods, to intervene in an individual's susceptibility to the development of a specific disease.
Oncogenetics
Research and development of panels of oncogenes and tumour suppressor genes and their relationship with different types of hereditary cancers, using state-of-the-art technology such as DNA microarrays and NGS sequencing.
Pharmacogenetics
The development of a new interactive platform for genetic counselling and therapeutic recommendations based on the patient's pharmacogenetic profile. Search for new markers in genes encoding for liver enzymes, transporters, receptors, and therapeutic drug targets. Development of mechanisms that consider drug interactions and drug interactions with the detoxifying capacity of liver enzymes.
Nutrigenetics
Obesity is a complex disease whose origins include hereditary predisposition, dietary imbalance, metabolism, and a lack of physical exercise. Although obesity alone can be considered a disease, it is one of the key risk factors for several prevalent diseases associated with the metabolic effects of excess adipose tissue, such as coronary heart disease, hypertension, type 2 diabetes mellitus and certain diseases. types of cancer.
In analyses conducted for the World Health Report 2002, approximately 58% of diabetes and 21% of ischaemic heart disease worldwide were attributed to a BMI greater than 21 kg/m2. The health consequences range from an increased risk of premature death to serious chronic conditions that reduce overall quality of life.
Nutrigenetics is the study of the effects of our individual genetic variations in response to our diet, exercise and lifestyle, all of which can cause genes to "express" positively or negatively. Nutrigenetic testing will help us identify where we are on our journey toward achieving our personal optimal health potential.
Sport Genetics
Genetic characterization of the phenotype of high physical performance. To develop genetic characterization tools addressing the integration of heritable traits related to muscular capacity and physical performance, drug metabolism capacity, detoxification, energy efficiency, inflammatory response, and lipid metabolism. To define a biological passport of the athlete that constitutes a useful and applicable tool in the daily practice of the coach and the sports medicine specialist, who will have to handle this information when dealing with the recovery of the athlete after injury.
Integral Program for Professional Clubs
Genomic Medicine represents a total transformation in the healthcare model, as it allows the establishment of action protocols aimed at predicting the individual risk of suffering from a series of diseases, including some closely linked to the life of the professional athlete, such as cardiomyopathies, heart attacks, heart failure or strokes.
Professional clubs must have the most advanced medical procedures to protect the health and optimise the performance of their main assets: the players or athletes.
Euroespes Health has an Integral Genomic Medicine Program that can be personalized and includes the following aspects:
- Development of biomarkers and genetic risk panels for the prevention of cardiovascular and cerebrovascular injuries and accidents.
- Program for the prevention of bone-muscular and neuro-muscular wear and tear or damage.
- Personalization of diets: nutrigenomics, food intolerances, and allergies.
- Personalization of the appropriate pharmacological prescription (non-toxic) for the treatment of sports injuries and other convalescences that the player may have in his daily life.
- Elaboration of prevention panels for bone, muscular, vascular, and cerebral degenerative risks.
- Study of risk genetics (e.g., cardiomyopathies) in the decision-making process of hiring a new player or athlete.
- Action protocol to reduce the time off work.
In short, a medical protocol that achieves the optimization of sports performance (physical + mental) and the protection of the health of the professional. All the medical information generated will be available on a customised and personalised digital platform, through which the club's medical team will be able to consult the profile and data of each player when it comes to defining the therapeutic approach to any pathology, determining the causes of illnesses or injuries, designing guidelines for optimising physical performance, etc.