Annotation: Congenital disorders of glycosylation (CDG) are a rapidly expanding severe group of hereditary metabolic disorders that result from abnormal glycosylation of glycoproteins or glycolipids. Currently, mainly due to the development of genomic techniques, more than 200 types of CDG are known. Diagnosis of CDG is often difficult because the clinical manifestations are very heterogeneous and there is no universal laboratory biomarker that would cover a wide spectrum of possible disorders of glycan structures with enormous functional diversity. To establish a definitive diagnosis of CDG, it is often necessary to analyze several biochemical indicators and apply a combination of broad spectrum of laboratory methods. In the presentation, we describe the biochemical and molecular nature of CDG, summarize the currently available diagnostic tools, and present successful experimental approaches.

Biography: Dr. Hana Hansíková is a senior biochemist and Head of the Laboratory for the Study of Mitochondrial Disorders (Mitolab) at the Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague. For more than 25 years, she has worked as a biochemical expert in the field of inherited metabolic disorders, with a particular focus on the bioenergetics of mitochondrial diseases and on mitochondrial dysfunction underlying a wide range of pathological conditions. She obtained her MSc and PhD in biochemistry at Charles University in Prague and trained internationally in mitochondrial biochemistry at the University of Bari and the University of Ancona, Italy. Her research centers on the detailed characterization of mitochondrial energetic metabolism in primary mitochondrial diseases and on the identification of mitochondrial dysfunction in neurodegenerative and non-mitochondrial metabolic diseases, such as congenital disorders of glycosylation (CDG). She has contributed to the identification and characterization of several novel diseases (including NUS1-CDG, SLC10A7-CDG, and DHRSX-CDG) and proposed new diagnostic biomarkers such as aberrant ApoCIII glycosylation and dolichol for rare CDG subtypes. Dr. Hansíková has authored over 180 peer-reviewed publications with more than 3,400 citations and an h-index of 32. She has served as principal or co-investigator on numerous national and international grants, including projects within FP6 EUMITOCOMBAT, COST, EJP RD, and ERDERA. She has received two Awards of the Ministry of Health of the Czech Republic for excellent research (2004 and 2021).

Contact at IPHYS: RNDr. Tomáš Mráček, Ph.D.; tomas.mracek@fgu.cas.cz