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There is a group of diseases, 95% as yet untreatable, that affects more people worldwide than the number of cancer and AIDS patients combined.
There are about 7000 known rare diseases and half a million people in the Czech Republic (and 300 million worldwide) suffer from them.Many of them can be helped by gene therapy - a modern treatment whose development is based on the knowledge of genes, which are studied by scientists of the Czech Centre for Phenogenomics (CCP). Rare diseases are most often diagnosed in childhood and have a variety of manifestations - from muscle weakness to severe immune disorders to severe intellectual disability. Cutting-edge genetic research, which is also underway at CCP, is therefore important to finding an effective cure.
Colleagues at GHC Genetics have been involved in important scientific work
The aim of the newly published study was to analyse a germline pathogenic variant of the CHEK2 gene that confers an increased risk of breast cancer (BC) in women. In this study, we describe the recurrent germline variant c.1009-118_1009-87delinsC, which was found in 21/10,204 (0.21%) Czech BC patients compared to 1/3,250 (0.03%) controls and 4/3,639 (0.11%) BC patients from an independent German dataset. In addition, we found this variant in 5/2,966 (0.17%) Czech (but none of the 443 German) patients with ovarian cancer, three of whom developed early cancer. Based on these observations, this variant was classified as probably pathogenic.
Confirmation of the stability of modified DNA opens up further possibilities in the field of medicine
Scientists from the Institute of Organic Chemistry and Biochemistry of the Czech Academy of Sciences (IOCB CAS) have proven that the highly modified DNA double helix is stable enough for further manipulation. This research could open up new possibilities for the use of DNA in areas of medicine. A team of scientists led by Professor Michal Hock from the Institute of Organic Chemistry and Biochemistry of the Academy of Sciences of the Czech Republic is investigating the limitations of DNA structure and function and successfully extending existing knowledge. Their latest research has been published in the peer-reviewed journal Nucleic Acid Research.
Breast cancer is influenced by a factor that is often overlooked
Genetics, obesity, alcohol, these are all factors that increase the risk of breast cancer and women are very aware of them. But there is one thing that many people do not primarily associate with a higher incidence of breast cancer and that is breast tissue density.