Groundbreaking research by Dr. Małgorzata Ponikowska

28.11.2024

Dr. Małgorzata Ponikowska from the Department and Chair of Medical Biology and Genetics at Medical University of Gdańsk (MUG) represented the University at the American Society of Human Genetics (ASHG) conference in Denver, United States. She presented the results of her research in the form of a poster titled Hidden yet dangerous: searching for the occult Y chromosome in patients with Turner syndrome.

Dr. Ponikowska’s work focused on the identification of the hidden Y chromosome in patients with Turner syndrome and the assessment of mosaicism levels in different tissues, using advanced molecular methods. Turner syndrome is a genetic disorder affecting women, characterized by the presence of only one X chromosome. Many patients exhibit mosaicism, a phenomenon in which two or more cell lines with different karyotypes are present. This involves the presence of cell lines containing either two X chromosomes or an X chromosome and a Y chromosome.

The presence of the Y chromosome in women increases the risk of germ cell tumors, but standard diagnostic methods often fail to detect it, making the assessment of health risks in patients more difficult. In her research, Małgorzata Ponikowska used modern molecular techniques that allowed the detection of even small amounts of the Y chromosome and precise estimation of the mosaicism levels.

The research findings shed new light on the genetic mechanisms associated with Turner syndrome and point to the need for an individualized diagnostic approach for this group of patients. Dr. Ponikowska’s research may contribute to improving the quality of diagnostics and more effective monitoring of cancer risk.