Poster about an interesting case - de novo mutation of PALB2 gene

As part of the 26th annual National DNA Diagnostics conference, which took place 17-19. April in Brno, Dr. Anna Horská, in a team with other colleagues from GHC Genetics, presented a very interesting poster about a unique case report describing a case of a breast cancer patient who was examined for suspected hereditary cancer predisposition based on her personal history and was found to have a de novo probably pathogenic mutation in the PALB2 gene (evaluated as causal about the proband's breast cancer).

22. 04. 2024

How genetics can help patients with mental illness

The treatment of patients with many psychiatric illnesses is quite lengthy, which is due (among other aspects) to the fact that the effect of many drugs on these illnesses takes up to 6 weeks or even later, and there is never a guarantee that the medication will have the expected effect. It is not uncommon in psychiatric care to have to try several different types of medication before finding the most optimal one.

22. 04. 2024

Gut microbiota and autism? They seem to be related...

A new peer-reviewed study, Multi-level analysis of the gut-brain axis shows autism spectrum disorder-associated molecular and microbial profiles, published in Nature Neuroscience, has shown a strong link between autism spectrum disorder and gut microbes, host immunity, genetic manifestations in the nervous system and dietary habits, suggesting that changes in the gut may play a role in the development of autism and potential treatments. The findings provide hope for future treatments for autism spectrum disorders and other diseases associated with the gut and brain. The full text of the study can be downloaded at the link from the article.

16. 04. 2024

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.

05. 04. 2024

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.

02. 04. 2024