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DISCUSSION “Whole genome sequencing: New trends and clinical added value“

/ Lecture

Tomáš Szemes

Comenius University in Bratislava, University Science Park, Geneton
The head of the Genomics and Bioinformatics Center of the Comenius University Science Park in Bratislava and the scientific director of the biotechnology company Geneton professionally specializes in DNA sequencing technologies, i.e. DNA reading. Since 2006, the main area of ​​his research has become the so-called free circulating DNA, more specifically circulating fetal DNA in pregnant women and circulating tumor DNA in the blood of oncology patients. He is the co-author of the NIPT clinical test (Non-invasive prenatal test) for the detection of chromosomal and subchromosomal disorders of the fetus, which has been used in clinical practice for 10 years under the commercial name Trisomy test in several EU countries. In the years 2004 - 2…
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Katarína Skalická

National Institute of Children's Diseases
Katarína Skalická is the Head of the Clinical and Molecular Genetics Laboratory at the Children's Clinic of LFUK and NÚDCH, as well as the Editor-in-Chief and Founder of the journal Medical Genetics and Diagnostics. She is also the Vice Chair of the Working Group for Medical Genomics, a member of the Expert Society for Rare Diseases, and a member of the European Reference Network for Rare Eye Diseases (ERN-EYE) and the Working Group for Skeletal Dysplasias OSTEOPED. Her expertise and leadership in the field of genetic diagnostics and rare diseases position her as one of the leading experts in this area.
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Stanislav Šutovský

1st Neurology Clinic, UNB and Faculty of Medicine, Comenius University
Professor Stanislav Šutovský, MD, PhD., is a leading expert in neurology, affiliated with the 1st Department of Neurology at Comenius University and University Hospital in Bratislava. He began building his expertise at the Institute of Neuroimmunology of the Slovak Academy of Sciences in Bratislava, further enhancing his skills through research placements at the Department of Neurology, Manchester Royal Infirmary in the United Kingdom, and at the Max Planck Institute for Structural Molecular Biology in Germany. Dr. Šutovský is highly regarded in Alzheimer’s disease research, focusing on the development and validation of biomarkers for the early stages of Alzheimer’s and other forms of dementia. As the author or co-author of more than 40…
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Božena Bollová

GeneTiCA Group
Country Manager for Slovakia at GeneTiCA Group and originally educated as a medical geneticist and molecular diagnostician. She has over seven years of experience supporting genomic and multiomic solutions aimed at rare disease diagnostics and cancer sample testing, including national projects such as the SARS-CoV-2 sequencing project. The core of her work is coordinating a local team of specialists who focus on building partnerships and ensuring exceptional care for clients with whom GeneTiCA Group collaborates, mainly on projects involving next-generation sequencing. She supports these clients in their day-to-day operations and promotes their activities through seminars, workshops, and lectures. Her high level of expertise and profes…
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