Publication on personalized health risk assessment based on single-cell RNA

5.01.2023

Together with Dorota Birkholz-Walerzak, Ph.D. from the Department of Paediatrics, Diabetology and Endocrinology and Prof. Beata S. Lipska-Ziętkiewicz from the Clinical Genetics Unit at theDepartment of Biology and Medical Genetics of the Gdański Uniwersytet Medyczny (Medical University of Gdańsk), we published the case study of a 14-year-old boy with a rare mosaic 45,X/48,XYYY karyotype presenting with subtle dysmorphic features and relative height deficiency, requiring growth hormone therapy.

As no clinical management guidelines for patients with such rare numerical Y chromosome abnormalities have been reported so far, including an increased cancer risk, we aimed at detailed molecular analysis with single-cell RNA sequencing technique (scRNA-seq) to provide the patient and his family with reliable information regarding his specific health risk complications. Details are available on the website www.nature.com.

Magdalena Koczkowska and Marcin Jąkalski were the main investigators of this study under the supervision of Arkadiusz Piotrowski and Jakub Mieczkowski, however, several our colleagues were also contributed. This study highlights the clear synergistic effect and clinical utility of close translational collaboration between the research laboratory and the clinic enabling genotype-driven personalized medicine.

photo Paweł Sudara/MUG