News

Due to a genetic defect, their lungs are affected. Patients are treated at a new centre in Brno

The first centre in Moravia to treat genetic diseases opens its doors to patients. Patients who lack the so-called alpha-1 antitrypsin (AAT) can now come to the Lung Clinic of the University Hospital Brno for relief. This is a substance that protects the lungs from destruction and from the development of a number of lung diseases. 

"We are already admitting the first patients who have developed a deficiency of the AAT enzyme in April. Most of them are middle-aged and suffer from advanced forms of lung disease - most commonly chronic obstructive pulmonary disease (COPD). Regular treatment with the protein replacement will provide relief to the patients. It stops the progression of the disease that has developed due to AAT deficiency," explains Milan Sova, Head of the Clinic of Lung Diseases and Tuberculosis at the University Hospital Brno. 

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).

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.

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.