What information do genes hide, what role do they play in how long we live and whether we develop chronic diseases? Can a person "edit" their genes to extend their life… The head of the project "The Genome of Bulgaria" and the Center for Molecular Medicine of MU-Sofia, Prof. Radka Kaneva, who was a guest lecturer at the seminar of the MOST Foundation "Give Hope", spoke to FACTI.
– Prof. Kaneva, what is the project "The Genome of Bulgaria" and what is its main goal?
– This is a unique project for the country, the goal of which is is to create a Bulgarian reference genome – i.e. to collect and analyze genetic data from a representative sample of the Bulgarian population from all regions of the country. We work with volunteers who donate blood. We isolate DNA from it and analyze all the variants in their genome.
– Why is it important to do such a project?
– Each person is unique, but we differ from each other with a very small percentage of our genes. It is these small variations that interest us, because some of them are associated with genetic diseases, and others – with certain characteristics of the population.
Such differences can be observed between different peoples – for example, there are variants characteristic of the Finns, others – for the Bulgarians.
The study of healthy people and the creation of a reference genome allows us to understand which variants are normal and which are characteristic of our population. This is extremely important in the diagnosis of hereditary and rare diseases, because this way we can distinguish disease from normal changes. You know that genetic diseases manifest themselves in early childhood and it is important if we can prevent them. Genetic diseases are of public importance.
– Are there currently similar data for Bulgaria?
– No. So far, such a large-scale study of the entire genome has not been conducted in Bulgaria. “The Genome of Bulgaria“ is the first such project and is part of the large European undertaking “The Genome of Europe“. Each country builds its own reference genome for its own population, and subsequently all the data is combined for comparative analyses and for the development of genomic medicine.
– Is this the first step towards genomic medicine?
– Yes, in fact, this is its basis. Genomic medicine studies how our genes interact with the environment and how these interactions lead to the development of various diseases – from rare genetic diseases, to common socially significant ones such as diabetes and cardiovascular diseases. This way we can understand the predispositions of individual people and implement early diagnosis and prevention.
– What can a person learn if they participate in such a study?
– In such a study, all the genes in our DNA are analyzed, including those related to hereditary diseases – for example, rare genetic diseases that manifest in childhood, and there are over 7,000 of them, as well as familial forms of cancer – of the breast, ovaries, colon and many other diseases.
- When we do such a study, to what percentage is it valid?
- The method is extremely accurate – we literally “read“ all the letters in the DNA and find the differences compared to the reference sequence. When we conduct the study among healthy people and take a representative sample of the population, we will be able to see how many of them are carriers of certain pathogenic variants that may be associated with a predisposition to various genetic diseases. Data of this scale for so many people have never been collected before. In practice, people usually come to genetic laboratories when the disease has already manifested itself - when a child with a genetic disease has been born or when a person has already developed some disease. The goal of genomic medicine is precisely to change this - to support both early diagnosis and prevention. So that people can take measures so that the disease does not manifest itself. The validity of the results is 100%, because DNA does not change throughout life. Genomic analysis is done only once - it remains valid forever.
– How “ healthy” is the Bulgarian according to the data so far?
– I can't say. Our project is in the process of collecting information - participants fill out a detailed clinical questionnaire, but we do not collect medical documents and we do not make diagnoses. The aim is for the sample to include healthy people, without known genetic diseases. Preliminary data do not allow us to draw conclusions about the health status of the nation, but the project will provide a basis for future analyses.
– How can one join the project?
– Anyone who wishes can do it voluntarily. The participant must be healthy, not have any known genetic diseases and his parents, as well as his grandparents, must have been born and lived in Bulgaria. Of course, you know what the history of our country is. That is why we ask each participant whether any of his grandparents were refugees, since at the beginning of the last century many people moved to our country, for example from White Sea Thrace. These are the requirements – the participants must be healthy and not have any known genetic diseases. That is why I cannot say how “healthy” the Bulgarian is – based on the analysis we have so far, there is still no definitive data. Every person can have some disease, but it is not necessarily genetic. Many people suffer from autoimmune or other chronic diseases, which are not necessarily severe genetic diseases. For example, high blood pressure can also have a genetic component, but it can also be influenced by our lifestyle and diet. Information about joining is available on the website “The Genome of Bulgaria“ (https://nucbtr.mu-sofia.bg/news/genomat-na-balgaria). There is also a link to a clinical questionnaire that can be filled out online. If volunteers are not from Sofia or Plovdiv, they can write to [email protected] so that we can send them an informed consent and a test tube. The blood sample can be given to a laboratory of their choice, and its transportation to our laboratory is at our expense.
– What stage is the project at now?
– We started our project before the launch of the “The Genome of Europe“ initiative. We have already collected and are sequencing the first 1,000 Bulgarian genomes. Currently, funding has been secured for another 2000, under the European project, with co-financing from the Ministry of Education and Science, so we are in the process of recruiting volunteers. The project will continue for about two and a half more years so that we can collect and study enough people who wish to participate. All information is available online - it is enough to type “The Genome of Bulgaria“ on the Internet. Detailed information can be found on the project website, as well as the clinical questionnaire that each volunteer must fill out. Participation is completely voluntary. It is necessary to fill out an informed consent form and give a small amount of blood from which DNA is isolated. At the beginning, the project was carried out mainly in Sofia and Plovdiv, but now people from all over the country can participate. It is enough to send an email to the project team to receive the necessary documents - an informed consent form, a blood collection tube and instructions. Everything can be done remotely – the documents are sent by courier, and the blood sample can be given to a convenient laboratory at the place of residence. The samples are transported at the expense of the project to the central laboratory, where the research is carried out. This is all that is needed to include a person in the project.
The goal is to build a database that will be accessible for scientific research and support the development of medicine of the future.
-------------------
Professor Radka Kaneva is the head of the Center for Molecular Medicine at MU – Sofia and the national biobanking hub, part of the European biobanking infrastructure, BBMRI-ERIC. Professor of Biochemistry at the Department of Medicinal Chemistry and Biochemistry, Faculty of Medicine, MU – Sofia. She completed her higher education at the Faculty of Biology of Sofia University “St. Cl. Ohridski“, specialty “Biotechnologies, genetic and cellular engineering“. Doctor of Molecular Biology. She specialized at the University of Oxford, England, and at the University of Bonn, Germany. She is engaged in scientific research in the field of genomics and personalized medicine, as well as in diagnostics of hereditary diseases in humans.