Tomas Freiberger is a Professor of Medical Immunology at Masaryk University in Brno, Czech Republic, and Director of the Molecular Genetics Laboratory at the Centre for Cardiovascular Surgery and Transplantation. He also works as a clinical geneticist at the Prenatal Diagnosis Centre. His research focuses on genetic disorders, with long-standing expertise in familial hypercholesterolemia (FH).

Since 1998, he has been actively involved in FH research and prevention and founded the Czech MedPed program, which coordinates FH care through a nationwide network of lipid centres and has registered over 10,500 patients. A key focus of his work is early FH detection, with projects on universal screening in newborns and preschool children.

He is the national lead investigator of the FH Studies Collaboration (FHSC), a member of the steering committee of the Homozygous FH International Clinical Collaboration (HICC), and contributes to activities of the FH Europe Foundation. His work aims to improve early diagnosis and long-term care for children and families with FH.

Contributions

Overweight, obesity, and cardiovascular disease in heterozygous familial hypercholesterolaemia: the EAS FH Studies Collaboration registry.Epidemiology of FHPublicationPaediatric Lipid Working GroupProposal of a Familial Hypercholesterolemia Pediatric Diagnostic Score (FH-PeDS).Screening for FHPublicationPaediatric Lipid Working GroupRLD 2024 Prague - Update on homozygous FH: genotype and phenotype correlationsEAS RLD 2024 PragueHow should we screen - systematic vs. cascade92nd EAS Congress 2024Familial hypercholesterolemia (FH) from screening to managementScreening: experience from cascade screening, universal screening and latest insights on screening on the EU levelRare Disease DayWebinars on-demandJoint FH Webinar series 2023: Let’s manage FH togetherCascade screening introduction and experience from Czech RepublicEAS AC on FH