10 major research findings pave the way for precision medicine and improved public health.
The biobank.cy Centre of Excellence for Biobanking and Biomedical Research at the University of Cyprus is proud to announce a major milestone in its mission to generate new knowledge to improve human health and contribute to the prevention, diagnosis, prognosis and treatment of diseases. The voluntary participation of 10,000 Cypriots marks a pivotal moment in the advancement of cutting-edge scientific research and innovation.
The Centre’s commitment to promoting the health and well-being of future generations is fuelled by the invaluable contribution of medical records and biological material, such as DNA, voluntarily donated by healthy volunteers and patients. This act of altruism is at the core of numerous research studies conducted at the Centre, aiming to unlock new therapies, advance medical care and improve health outcomes for the Cypriot population.
Based on a state-of-the-art biomedical research infrastructure, the Centre’s Biobank, like other biobanks worldwide, is an organised collection of medical records and information accompanied by biological material from volunteers such as DNA. The archived data and samples are studied by specialized scientific teams at the Centre, with many external collaborators, in order to identify specificities and DNA characteristics responsible for various genetic diseases, rare or common, to be used as tools to support precision medical research. The same files are already being exploited and are available to any researcher interested in finding solutions to health problems.
10 major research findings of the biobank.cy Centre of Excellence
The voluntary participation of 10,000 citizens in the Biobank has led to significant developments and findings, the main ones being:
- Mapping the DNA of Cypriots: in the framework of the CYPROME project, the first results concerning genetic diseases, the peculiarities and DNA characteristics related to the health of Cypriots at population level have already started to emerge. For the first time the molecular epidemiology of genetic diseases in Cypriots can be studied on a holistic pan-Cypriot basis. Importantly, it is expected to reveal whether rare genetic disorders are more prevalent among the Cypriot population, leading to earlier diagnosis and more effective management.
- Research on patients with hereditary forms of haematuria and Alport syndrome: By studying several families with hereditary microscopic haematuria, the Centre’s team has shown for the first time that a significant proportion of these patients will have a progressive course and will end up with severe impairment of renal function, up to the need for dialysis or kidney transplantation between the ages of 40-80 years (mean age 56 years). The findings have been confirmed by other researchers and what is now of concern to the global nephrology community is to identify the patients who are most at risk of developing severe kidney disease at an advanced age.
- Research project to better diagnose, treat and prevent other inherited kidney diseases: In addition to the common forms of hereditary haematuria, through longitudinal systematic research by nephrologists and researchers in the laboratory of the biobank.cy Centre of Excellence, hereditary nephrological diseases observed in Cyprus and affecting a large number of citizens and specific areas and villages that are hotspots for a large number of patients, both in Nicosia and in Paphos and Kyrenia, have been identified. Examples of such diseases are polycystic kidney disease and cystic myeloid disease.
- Hereditary Heart Disease Study (HCD Study): the first systematic study of hereditary heart disease conducted in Cyprus. It provides the opportunity to develop a clinical and genetic database, since it largely identifies the genetic errors that are responsible and ultimately lead to early diagnosis, prevention and personalised treatment, e.g. by implanting an implantable cardioverter defibrillator that corrects cardiac arrhythmias, or by other medical intervention.
- Study of hereditary and multifactorial vision diseases: for the first time, a follow-up and genetic study of hundreds of patients with vision problems of all ages is underway. Rare diseases causing retinal dystrophy have already been identified, thus providing broader information to patients and their families.
- Research study of the COVID-19 pandemic in Cyprus: The study aimed to test the presence of antibodies against the SARS-CoV-2 coronavirus responsible for COVID-19. Through the screening of more than 1500 people who became ill, the reaction profile of Cypriot patients to the disease was revealed and a genetic study is underway to identify genetic factors that may be responsible for the increased susceptibility or resistance of groups of patients.
- Use of liquid biopsy as a prognostic biomarker in lung cancer patients receiving immunotherapy: Research is ongoing to confirm its value and its use as an accurate and reliable diagnostic and prognostic method for more types of cancer and in the early stages of the disease. It is based on the evaluation of DNA and cancer cells escaping from the tumour and circulating in the patient’s blood.
- Development of a nano-carrier for targeted therapy of triple-negative breast cancer: the specific technology of the University of Cyprus, patented, concerns nano-particles that have the ability to enter cancer cells and enhance the intensity of the therapeutic molecule or substance they carry, avoiding at the same time the targeting of normal cells in a striking way, which is inextricably linked to the possibility of limiting the side effects usually caused by chemotherapeutic drugs. Research is aimed at improving this method.
- Genetic investigation of patients with primary tibial dyskinesia: This is a rare and highly heterogeneous disorder involving several different genes that code for proteins that contribute to the structure and function of the alveoli in the lungs, which play a key role in clearing the bronchi of secretions. Among other diagnostic tests performed by our physicians, genetic analysis is now a systematic parallel approach to patient evaluation.
- Preclinical trial of a drug candidate for Alport syndrome: Alport syndrome is a rare inherited kidney disease that occurs at a very young age with little blood in the urine. It follows a progressive course and patients develop proteinuria and chronic kidney disease before almost always ending up with an artificial kidney (dialysis) or the need for a kidney transplant. A specialized mouse model created by Center researchers is being used to test compounds that promise to improve clinical outcomes and prolong kidney function. Confirmation of positive results will allow the substances to be transferred and tested in humans.
Partners in the above projects are dozens of nephrologists, cardiologists, ophthalmologists, ophthalmologists, pulmonologists, geneticists and doctors of other specialties who trust the expertise of the scientists of the Centre of Excellence.
Source: University of Cyprus | Latest news (https://tinyurl.com/2s4xcx8j)