"Decoding Austria's DNA: How a Tyrolean Researcher Aims to Detect Genetic Diseases Early"

The Tyrolean human geneticist Johannes Zschocke is initiating a nationwide genome project with the goal of capturing Austria's genetic diversity and identifying regional hereditary diseases early. According to Zschocke, comprehensive genome analyses could help to deploy preventive measures in a targeted manner. A central element of the project is the establishment of a nationwide genome analysis infrastructure, explained the director of the Institute of Human Genetics and the Center for Medical Genetics Innsbruck in an interview with the APA.

Genomes of Over 2,000 Individuals: Innsbruck Project to Aid in the Detection of Hereditary Diseases

The project is led by the Medical University of Innsbruck and plans to sequence the genomes of at least 2,150 individuals in the first step. The official kick-off event will take place on Friday in Innsbruck.

Zschocke emphasizes that the initiative aims in the long term to make genome sequencing accessible to as many people as possible in Austria. "The more individuals are examined, the more accurately we can identify genetic patterns and potential hereditary diseases," said the scientist. He does not specify a concrete upper limit for the number of participants but underscores the necessity of a broad data pool.

Gene Mutation in the Tyrolean Zillertal: Studies Show Regional Peculiarities

Previous genetic studies have already discovered regional peculiarities – such as a gene mutation in the Tyrolean Zillertal that significantly increases the risk of breast cancer in some women. These findings could help to detect genetically caused diseases earlier and take targeted preventive measures.

It is important not to draw hasty conclusions from genetic data, warns Zschocke. The correlation between gene mutations and certain diseases must be backed by comprehensive studies. "We need to precisely analyze which genetic variants are considered normal in individual regions and where deviations occur that may be associated with certain diseases," says the expert.

"DNA of Austria": Zschocke Calls for Low-Threshold Approach to Genome Analyses

The vision is that in the future, general practitioners could also play a central role in genome analysis – for example, by taking blood samples for genetic examinations. For research results to effectively flow into medical practice, comprehensive DNA data, interdisciplinary collaboration, and genetic counseling are needed.

Zschocke emphasizes that the project will be conducted exclusively in public research institutions. Private institutes are not involved. "Our goal is to integrate genome analyses as broadly and accessibly as possible into medicine to sustainably improve the health of the population," summarizes the human geneticist.

(APA/Red)

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