Before 2008, no research was conducted in Poland to identify genes that determine the formation of keratoconus (KTCN) – an eye disease causing visual impairment. Only a team of scientists from the IHG PAS actively began searching for the basis of this disease in Polish patients.
The research undertaken by the team of prof. Marzena Gajęcka from the Department of Cancer Genetics of the IHG PAS, focuses on the identification of diagnostic and prognostic genetic markers of KTCN. The research is conducted in cooperation with many clinical centers, including Poznań University of Medical Sciences, Medical University of Warsaw, Medical University of Białystok, Hospitals in Leszno, Baylor College of Medicine in Houston, Texas, USA and the Optegra Clinic in Poznań. The research is of a basic nature with a high application potential, as it is used for therapeutic purposes by ophthalmologists.
The uniqueness and breakthrough of the KTCN research results from the fact that it is conducted on the world’s largest collection of corneas (and their individual parts) from patients and people who constitute control groups. The comprehensive approach means that at the same time biological material such as peripheral blood, swabs from the surface of the eye or tear fluid is obtained from patients. Detailed and multifaceted medical records of patients are an excellent starting point for carrying out precise genetic analyzes.
The research is carried out with the use of the most modern high-throughput technologies enabling the identification of genetic, epigenetic, proteomic and metabolomic factors in the pathogenesis of KTCN, as well as bioinformatic analyzes enabling the integration of omics data. The research results are published in the world’s leading ophthalmic and genetic journals and presented at American, European and Polish conferences. Thanks to scientific cooperation, it is possible to spread knowledge about the KTCN disease among practicing ophthalmologists. This translates into earlier identification of the disease, faster implementation of therapy and prevention of the consequences of lack of or inappropriate treatment of KTCN.
The research is carried out as part of projects financed by the National Science Center: OPUS 2018/31/B/NZ5/03280, OPUS 2021/41/B/NZ5/02245, Preludium 2022/45/N/NZ5/02989.