The team of Professor MUDr. Petra Lišková, MD, Ph.D. is split between two institutions. The basic research is undertaken in the Laboratory for the study of rare diseases of the Department of Paediatrics and Inherited Metabolic Disorders (KPDPM), where it forms a specialised group focused on ocular genetics. The clinically oriented part of the team’s research takes place at the Eye Clinic of the First Faculty of Medicine of the Charles University and the General University Hospital, where a Centre for Ocular Genetics has been established. The research team consists of one molecular biologist, two ophthalmologists who successfully defended their Ph.D. in 2020 and 2021, four postdocs two of whom are physicians, and one doctoral student.

Focus

The team focuses on research of genetic mechanisms of rare inherited diseases of the eye. It is a very large group of diseases counting around 800 clinical units. This is due to the fact the eye is, from a developmental perspective, a highly complex organ. For this reason, the research is correspondingly varied: it deals with, e.g., corneal dystrophy, congenital cataracts, or inherited diseases of retina. The eye is also often affected in various genetically determined syndromes. Professor Lišková’s team is the only one in the Czech Republic to systematically focus on this subject.

Cooperation, grants, and projects

Within the faculty, the group closely collaborates with other groups and physicians working at the Department of Paediatrics and Inherited Metabolic Disorders, especially the mitochondria laboratory (Ing. Markéta Tesařová and Professor Tomáš Honzík). Together, they aim to explain especially the hereditary causes of atrophies of the optic nerve. Outside the faculty, Professor Lišková’s team established collaboration with a number of research centres focused on genetics and ophthalmology, be it academic ones (University Hospital Motol, University Hospital Královské Vinohrady or University Hospital Hradec Králové) or those belonging to the private sector (Agel Laboratories). The team is currently engaged in four grant projects (funded by AZV, GAČR, EJP RD, GAUK).

Unique collaboration with international experts

On an international level, the team collaborates especially closely with the UCL Institute of Ophthalmology in London (group of Assistant Professor Alice Davidson and Professor Alison Hardcastle). This cooperation is focused on research of diseases of the cornea. In Great Britain, the team also cooperates with Professor Marcela Votruba Cardiff University), who is also a visiting professor at the First Faculty of Medicine. With her, the team investigates mainly atrophy of the optic nerve. Other important collaborators of Professor Lišková’s team include Professor Elfride De Baere of the University of Ghent (this collaboration is supported by grant SOLVE-RET, EJP RD) and Professor Frans Cremers (Radboud University in Nijmegen), who both focus on diseases of the retina. Numerous smaller-scale joint activities take place within the framework of European Reference Network for Rare Eye Diseases, in which Professor Lišková’s team participates as the only group from the Czech Republic.

Significant results

Significant achievements made by the team include the discovery of a gene for a posterior polymorphic dystrophy of the cornea type 4 in 2018 (OMIM # 618031), genome-wide association study of keratoconus, a multifactorial disease of the eye, or the study of pigment retinopathy in patients suffering from the Danon disease. Recently, together with scientists from another 20 countries, the team participated in a large international study which managed to identify previously undiscoverable causative mutations in gene ABCA4 in 448 individuals suffering from the Stargardt disease, whereby 56 of the participating subjects were examined by the Czech Centre of Clinical Ocular Genetics.

For further information, consult ocnigenetika.lf1.cuni.cz or write to petra.liskova@lf1.cuni.cz.