Michela Barbaro
Porphyria Centre Sweden, Clinical Genetic and Genomics,
Centre for Inherited Metabolic Diseases,
Karolinska University Hospital, Stockholm, Sweden
Members
Edith Friesema
Porphyria Expert center Rotterdam, Erasmus MC, University Medical Center,
Rotterdam, The Netherlands
Ylva Floderus
Porphyria Centre Sweden and Centre for Inherited Metabolic Diseases, Karolinska University Hospital,
Stockholm, Sweden
Elena Di Pierro
Medicine and metabolic diseases unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico,
Milan, Italy
Corresponding members
Sharon Whatley
Cardiff Porphyria Service, Department of Medical Biochemistry and Immunology,
University Hospital of Wales Healthcare NHS Trust,
Cardiff, UK
Aasne Aarsand
Norwegian Porphyria Centre,
Haukeland University Hospital, Bergen, Norway
Carl Baravelli
Norwegian Porphyria Centre,
Haukeland University Hospital and Norwegian Institute of Public Health,
Bergen, Norway
Leif Karlsson
Porphyria Centre Sweden, Clinical Genetic and Genomics, Centre for Inherited Metabolic Diseases,
Karolinska University Hospital,
Stockholm, Sweden
Edyta Odnoczko
Laboratory of Genetics in Hemostasis and Porphyria,
Institute of Hematology and Transfusion Medicine,
Warsaw, Poland
Key objectives:
- Facilitate inclusion of acute porphyria gene variants into the European Porphyria Registry (EPR) Variant Database; with variant data and biochemical findings of the index case/patient.
- Perform reviewing, assessment, and classification of acute porphyria gene variants by two expert reviewers based on standardized biochemical and the ACMG classification criteria.
- Publish an overview on the IPNET webpage of all known acute porphyria gene variants with their ACMG classification and the evidence behind it.
- HMBS variant database: collection and variant classification are ongoing.
- CPOX and PPOX variant databases under development.