News

Our genotype can influence the likelihood of contracting tick-borne encephalitis

The location of the tick does not determine whether someone gets encephalitis. It's different with genes. There is a slight confusion in the DNA that contributes to an increased risk of infection, but also a higher likelihood that the course of "tick-borne" disease will be severe.

A general condition, an encounter with an infected tick, or the ability of the virus to cause disease. These are examples of what influences whether someone gets tick-borne encephalitis. It also includes our genetic makeup. European scientists, including those in the Czech Republic, have found and documented a change in DNA that contributes to the outbreak of the disease.

There is one particular DNA substitution that, once you have it, predisposes you to be more likely to be susceptible to tick-borne encephalitis. Moreover, if you do get it, it is more likely to be more severe, says virologist Daniel Růžek, who works at the Biological Centre of the Academy of Sciences, Masaryk University or the Research Institute of Veterinary Medicine.

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.