Dr Anna Ligęzka uzyskała z wyróżnieniem stopień doktora w dyscyplinie nauk farmaceutycznych w ramach międzynarodowego doktoratu prowadzonego we współpracy pomiędzy Wydziałem Farmaceutycznym UJCM w Krakowie a Department of Clinical Genomics, Mayo Clinic Rochester, Minnesota, USA.

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The International Doctorate of Anna Ligęzka, MSc
Clinical and basic investigations on aldose reductase inhibitors in Congenital Disorders of Glycosylation
Supervisors: Eva Morava-Kozicz, M.D. Ph.D.¹ and Wirginia Krzyściak, Ph.D.²

Affiliations:

1. Mayo Clinic, Department of Clinical Genomics under supervision Prof. Eva Morava-Kozicz
2. Department of Medical Diagnostics, Pharmaceutical Faculty,Jagiellonian University Medical College under supervision of Doc. Wirginia Krzyściak, Ph.D.

The research forming the subject of the doctoral dissertation entitled: Clinical and basic investigations on aldose reductase inhibitors in Congenital Disorders of Glycosylation conducted by Madam Master Ligęzka and supervised by Doc Wirginia Krzyściak and Prof. Eva Morava. This doctoral thesis was a collaborative effort between the Jagiellonian University Collegium Medicum Faculty of Pharmacy and the Mayo Clinic’s Department of Clinical Genomics in Rochester, Minnesota, USA—a world-renowned clinical center. The core focus of the research was to identify potential inhibitors for congenital disorders of glycosylation (CDG), with particular emphasis on its most prevalent form, congenital phosphomannomutase 2 (PMM2-CDG, MIM #212065).

Amidst this interdisciplinary and international research collaboration, Anna Ligęzka, M.D., has determined the efficacy of epalrestat, a promising new candidate within the realm of aldose reductase inhibitors, for treating the rare metabolic disorder known as congenital disorders of glycosylation (CDG). Continued research affirms the drug’s safety and effectiveness, propelling it to clinical trials for PMM2-CDG treatment. The results obtained became the subject of a publication in Annals of Neurology (2021), in which Anna Ligęzka, M.D., is the lead author reporting these new findings.

In a pioneering move within her thesis, Anna Ligęzka, M.D., used proteomics and glycoproteomics to validate the efficacy of CDG treatments. Furthering the clinical depth, she undertook assessments utilizing the validated Nijmegen Progression CDG Rating Scale (NPCRS). This scale was completed based on physical examination, laboratory tests, and medical histories, details of which are articulated in a subsequent manuscript by Anna Ligezka in the journal Molecular Genetics and Metabolism (2022).

Patients with PMM2-CDG experience a notably high incidence of blood coagulation abnormalities, estimated at around 60%, attributed to glycosylation abnormalities. Recognizing a gap in reliable data on the prevalence of these abnormalities within this patient group, Ms. Ania assessed an evaluation of coagulation parameters. Specifically, she looked at antithrombin 3 (ATIII) activity and factor XI (FXI) activity. These parameters were assessed as potential biomarkers for PMM2-CDG, serving as indicators for thrombotic episode risks and gauging the efficacy of therapeutic interventions. These new findings have been accepted for publication in the June 2023 issue of the journal Mol Genet Metab.

The dissertation of Ms. Anna Ligęzka, M.Sc. stands out for its clarity in writing and the methodical presentation of research findings. This dissertation significantly advances our understanding of the etiology and diagnosis of CDG, with a particular emphasis on shedding light on potential treatments for this rare disease.

The dissertation was highly regarded, and recognized as both interesting and innovative. It reflects a noteworthy scientific contribution from the candidate, aligning with global standards of excellence. Furthermore, it fully complies with the requirements for doctoral dissertations as detailed in Article 187 of the Act from 20 July 2018 on Higher Education and Science.
Given its exemplary qualities, the Council for Academic Degrees in the Discipline of Pharmaceutical Sciences at Jagiellonian University CM recommended that award the dissertation of Anna Ligęzka, M.Sc. with distinction.