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Preimplantation testing – A method for reducing the risk of miscarriages
The development of modern medicine has revolutionized reproductive procedures, particularly artificial insemination. During this process, couples who face difficulties with natural conception gain access to new opportunities that allow them to have children. The in vitro fertilization program, as one of the most widespread methods, offers solutions not only for couples struggling with infertility but also increasingly provides options for screening genetic disorders. Professionals, such as Dr. Attila Vereczkey, the medical director of the Versys Clinics Human Reproductive Institute, continuously work to provide patients with the highest level of professional support alongside the most advanced procedures. Concerns About Birth Defects In the case of children conceived through the IVF program,…
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Analysis of BRAF Gene Mutations – When is it Necessary?
The diseases of the thyroid, especially neoplastic changes, are a serious concern as accurate diagnosis and appropriate treatment are crucial. Thyroid nodules are common occurrences that can be benign or malignant, and distinguishing between them often presents a challenging task. Recent research and medical practices increasingly emphasize various diagnostic methods, such as fine-needle aspiration biopsy, which can aid in establishing the correct diagnosis. Additionally, the examination of BRAF gene mutations plays an important role in diagnosis, as this mutation may indicate the presence of malignant tumors in certain cases. To accurately assess the condition of the thyroid, it is essential to consider the latest research findings. Therefore, the health of…
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Genetic Origin of Breast and Ovarian Tumors
The breast and ovarian cancers are among the most prevalent types of tumors affecting the female population, with a significant portion of cases attributed to genetic factors. Hereditary predisposition can arise from mutations in the BRCA1 and BRCA2 genes, which play a key role in the repair of DNA in cells. Correcting DNA errors is essential for maintaining the stability and integrity of cells, and if these mechanisms are compromised, it can lead to cancerous processes. It is worth mentioning that BRCA mutations can occur not only through inheritance but can also arise spontaneously. For individuals with BRCA1 and BRCA2 mutations, recognizing the risk is particularly important, as these genetic…
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Personalized Medicine Based on Genotype
Az orvostudomány területén az utóbbi időszakban egyre hangsúlyosabb szerepet kap a személyre szabott gyógyszeres terápia. A hagyományos, általános gyógyszeradagolási módszerek helyett a kutatók és orvosok arra törekednek, hogy az egyéni genetikai sajátosságok figyelembevételével hatékonyabb kezeléseket kínáljanak. E megközelítés célja, hogy a betegek a számukra legmegfelelőbb beavatkozásokat kapják, amelyhez elengedhetetlen a genetikai információk ismerete. A személyre szabott orvoslás koncepciója A személyre szabott orvoslás koncepciója nem csupán a gyógyszerek hatékonyságának növelésére irányul, hanem a mellékhatások minimalizálására is. A genetikai adottságok figyelembevételével a kezelések már jóval célzottabbak lehetnek, így a gyógyulás folyamata is gyorsabbá és hatékonyabbá válik. A modern tudományos kutatásoknak köszönhetően egyre több olyan módszer áll rendelkezésre, amelyek lehetővé teszik a betegségek…
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Genetics does not determine fate, but indicates predisposition to disease.
The field of genetics is a complex science that examines the relationships between biological inheritance and various diseases. Many tend to think that genetic information automatically determines the future and the likelihood of disease development; however, this is not entirely true. Research shows that genetic predispositions are not the same as fate. Significant differences exist, especially in chronic diseases such as asthma, between predisposition and the actual manifestation of the disease. Asthma prevalence Asthma is becoming increasingly common, particularly among children. Recently, the incidence of the disease has significantly increased, making it one of the most prevalent childhood illnesses in Hungary. This typically chronic inflammatory lung disease involves numerous immunological…
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Screening for Fetal Abnormalities: Down Syndrome and Spina Bifida
A pregnancy, there are several options available for identifying fetal abnormalities. Thanks to the advancements in modern medical technologies, expectant mothers have access to increasingly accurate screening tests that help in recognizing potential issues. The range of screening methods is expanding, thus reducing the number of necessary invasive procedures, such as amniocentesis, which is becoming less frequently required. Importance of Fetal Abnormality Screening Screening for fetal abnormalities is particularly important, as early diagnosis allows parents to make informed decisions regarding the continuation of their pregnancy. The most common chromosomal abnormalities, such as Down syndrome and spina bifida, can be screened using various methods. These tests are generally conducted during the…
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Australia launches the world’s first preventive DNA testing
A modern orvostudomány folyamatosan fejlődik, és a genetikai vizsgálatok terén elért eredmények különösen figyelemre méltók. A genetikai szűrések lehetőségei egyre szélesebb körben érhetőek el, ami különösen fontos a fiatalok számára, akik számára a megelőzés kulcsfontosságú lehet. A genetikai tesztelés révén korai információkat kaphatunk arról, hogy milyen betegségekre lehetünk hajlamosak, így a megfelelő intézkedéseket időben megtehetjük. Genetikai szűrések a fiatalok számára A Monash Egyetem által vezetett projekt célja, hogy a 18 és 40 év közötti fiatalok számára lehetőséget adjon arra, hogy ingyenes nyálteszteken keresztül tájékozódjanak a rákos megbetegedések és szívbetegségek kockázatáról. A szűrés során a résztvevők genetikai profiljának elemzése történik, amely során a kutatók olyan géneket vizsgálnak, mint a BRCA1 és…
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My Son Has Leiden Mutation – A Response from the Doctor
A thrombosis, or the formation of blood clots, can cause serious health problems and affects not only the older population. Nowadays, more and more young people are facing this danger. The blood coagulation system is influenced by numerous factors, many of which can be traced back to hereditary predisposition. Genetic mutations, such as the Leiden mutation, play a significant role in the occurrence of thrombosis, and it is important for patients to be aware of them in order to choose the appropriate treatment methods. The development of thrombosis is not just an age-related disease, as young people can also be affected. When the regulation of blood coagulation is disrupted, the…
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Detection of gene doping with a simple blood test
A performance enhancement has always been at the forefront of the sports world, and the fight against doping continuously presents new challenges to science. Athletes are not only utilizing their physical strength but also technological innovations to increase their competitiveness. In recent years, gene doping has received increasing attention, opening new dimensions in enhancing sports performance alongside traditional forms of doping. The essence of gene doping is that athletes modify their genetic material, allowing their bodies to produce performance-enhancing substances on their own. The latest scientific findings suggest that gene doping can be detected in blood samples long after it has occurred, marking a significant step in the fight against…
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Have the genes that cause ovarian cancer been discovered?
Ovarian cancer is a disease that can manifest in various forms, and researchers are continuously searching for the causes of its development. According to the latest scientific discoveries, certain genetic mutations play a key role in the development of an aggressive type of the disease, clear cell ovarian cancer. Such research not only aids in understanding the disease but also creates opportunities for the development of new treatment methods. In genetic research, scientists are gaining more and more information about the mechanisms behind cancer diseases. Among these discoveries is the work of a research group at Johns Hopkins University, which identified two key genes that may play a role in…
