The research program focuses on rare diseases and on elucidating the role of rare genetic variants in the development of complex diseases, and it represents a long-term primary research activity of the participating departments at the First Faculty of Medicine, Charles University.
The involved clinical units — the Clinic of Pediatrics and Inherited Metabolic Disorders (KPDPM) (Prof. Kmoch, Honzík, Zeman, and Martásek), the Eye Clinic (Prof. Lišková), the Neurology Clinic (Prof. Jech and Assoc. Prof. Dušek), the Nephrology Clinic (Prof. Ryšavá), the Second Department of Internal Medicine (Prof. Linhart), the Oncogenetics Laboratory of the Institute of Medical Biochemistry and Laboratory Diagnostics (ULBLD) (Prof. Kleibl), and the Prion Laboratory of the Institute of Immunology and Microbiology (UIM) (Assoc. Prof. Holada) — develop and utilize unique patient cohorts that are very well characterized both clinically and in the laboratory, as well as collections of biological samples from these patients.
The Clinic of Pediatrics and Inherited Metabolic Disorders (KPDPM): Provides specialized care and research in inherited metabolic disorders and rare diseases. Integral to the National Center for Medical Genomics (NCMG) and the Laboratory for the Study of Mitochondrial Disorders (Mitolab).PIs: Prof. Kmoch (H-index 44), Prof. Honzík (32), Prof. Zeman (40), Prof. Martásek (53), Dr. Hansíková (31). 11 junior researchers involved.
The Eye Clinic: Performs comprehensive diagnostics of monogenic
eye disorders; participates in the European Reference Network for rare eye
diseases.
PI: Prof. Lišková
(WOS H-index 29). 2 juniors involved.
The Neurology Clinic: Monitors cohorts with neurodegenerative
diseases and studies clinical and molecular biomarkers for diagnosis, disease
progression, and therapy evaluation.
PIs: Prof. Jech (H-index 41), Assoc. Prof. Dušek (37). 5 juniors involved.
The Nephrology Clinic: Studies hereditary nephropathies and
amyloidoses; collaborates on diagnostics, biomarkers, and treatment research.
PIs: Prof. Ryšavá (18),
Mgr. Živná (18), Dr.
Sikora (21). 2 juniors
involved.
The Second Department of Internal Medicine – Fabry Disease Center:
National hub for Fabry disease diagnostics, treatment, and research.
PI: Prof.
Linhart (37). 2 juniors
involved.
The Oncogenetics Laboratory, ULBLD: Research on hereditary cancer
syndromes, gene variants, and polygenic modifiers.
PI: Prof. Kleibl (26). 3 junior involved.
The Institute of Immunology and Microbiology - Prion Laboratory:
Studies pathogenesis and diagnostics of neurodegenerative proteinopathies,
focusing on prion-like misfolded proteins.
PI: Assoc. Prof. Holada (19). 1 junior involved.
The Medicinal Chemistry Group: Designs and tests bioactive
compounds and formulations using computational, synthetic, and analytical
chemistry integrated with biochemistry and molecular biology.
PI: Assoc. Prof. Jakubek (19).
4 juniors involved.