The objects of conducted research are multifactorial diseases of the eye – keratoconus, characterized by progressive thinning and protrusion of the cornea, and high-grade myopia which may be diagnosed when the refractive error exceeds –6.0 D. In both diseases, presence of degenerative changes in the eye structure is observed. The aim of research is to identify genetic factors responsible for keratoconus and high-grade myopia development, and to evaluate their role in the diseases phenotype. The hypothesis assumes the contribution of different genes and mutations in etiology of both studied diseases.

Publications

Events

Date:
18-20.06.2015
Where:
Poznań

Mutational screening of ZNF469 in Polish patients with keratoconus.

Date:
06-09.06.2015
Where:
Glasgow

Evidence against ZNF469 being causative for keratoconus

Date:
18-22.10.2014
Where:
San Diego

Transcriptome analyzes in human corneas derived from keratoconus and control individuals from Poland.

Date:
01-04.10.2014
Where:
Nicea

Analysis of Keratoconus genetic factors within Keratoconus Loci and mtDNA.

Date:
10-13.09.2013
Where:
Poznań

Analysis of VSX1 gene in Polish patients with keratoconus. 4th Polish Congress of Genetics

Date:
13-15.06.2013
Where:
Warszawa

The role of inflammatory mediators in keratoconus.

Date:
10-13.10.2012
Where:
Nicea

Analysis of lincRNA at 13q32 keratoconus locus.

Awards

Awarded: dr n. farm. Justyna Karolak
Scientific awards for achievements in 2016.
Given by: President of Poznan University of Medical Sciences

Scientific awards for achievements in 2016.

Awarded: dr n. farm. Justyna Karolak
Award for the best doctoral dissertation in the period between 1 January 2014 and 30 June 2016.
Given by: Polish Society of Human Genetics.

Award granted by the Board of the Polish Society of Human Genetics for the best doctoral dissertation in the period between 1 January 2014 and 30 June 2016.

Awarded:
dr n. farm. Justyna Karolak
dr n. med. Dorota Nowak
Barbara Ginter-Matuszewska
prof. dr hab. n. med. Marzena Gajęcka
This prize (Bronze Helix) for the poster.
Given by: 5th Polish Congress of Genetics.

Downregulation of core elements of TGF-b, Hippo, Wnt, and collagen synthesis pathways in keratoconus corneas", Łódź, 19-22.09.2016.

Awarded: dr n. farm. Justyna Karolak
Conference Fellowships to attend the European Human Genetics Conference 2015
Given by: The Organizers of the European Human Genetics Conference 2015

“Evidence against the ZNF469 gene being the gene for keratoconus in the general population.”

Awarded: dr n. farm. Justyna Karolak
Conference Fellowships to attend the ESHG
Given by: ESHG

Glasgow, 2015

Awarded: dr n. farm. Justyna Karolak
Doctoral Scholarship, Poznan University of Medical Sciences
Given by: UMP

Poznan, 2014

Awarded:
dr n. farm. Justyna Karolak
dr n. med. Magdalena Kostrzewska-Poczekaj
Scholarship
Given by: Regional Labour Office

“Scholarship for PhD students specializing in strategic fields for Wielkopolska’s development”

Awarded: dr n. farm. Justyna Karolak
Poster price
Given by: Scientific committee of the IV Polish Congress

Poster price “Characteristics of duplication and deletion occurring in monosomy 1p36 syndrome”

Awarded: dr n. farm. Justyna Karolak
ESGM-ESHG fellowship
Given by: ESGM-ESHG

ESGM-ESHG fellowship to attend the 3rd Course in Eye Genetics, 13-15.10.2013, Bertinoro di Romagna, Italy

Awarded: dr n. farm. Justyna Karolak
Scholarship support for PH.D. students specializing in majors strategic for Wielkopolska’s development”
Given by: Human Capital Operational

Scholarship support for PH.D. students specializing in majors strategic for Wielkopolska’s development”, Sub-measure 8.2.2 Human Capital Operational Programme, co-financed by European Union under the European Social Fund, Poznan