The Region Hovedstaden, Clinical Genetics Department (RH) covers the whole of Denmark concerning diagnosis, biochemical monitoring, clinical evaluation and treatment of patients with metabolic disorders. It was/is involved in many projects concerning metabolic and rare disorders, including ALPHAN-MAN (about enzyme replacement in ?-Mannosidosis) and the E-IMD project (forming a database and network for patients with organic acidurias and urea cycle disorders). The Department is leader of a Nordic Database for Rare Disorders.
Key staff involved in the project
MD, DMSC, Consultant Metabolic Paediatrician, Head of Clinic for Rare Disorders and Centre for Inherited Metabolic Disorders. As the head of the Center for Metabolic Disorders, he has the overall responsibility for the diagnosis and care of patients with metabolic disorders. He has a long lasting experience in most treatment aspects for these disorders, including ERT in lysosomal disorders. He has taken part in previous and current projects, including clinical trials in patients with metabolic disorders, including all of those listed above as principal investigator. He is associated with the University of Copenhagen as teacher and scientific lecturer. Chair, Committee for Clinical Genetics and Screening, Danish Paediatric Society. Chair, Committee for MS/MS-screening, that supervise extended neonatal screening for IEM in Denmark. Member of expert group for rare disorders (Center for Small Handicapgroups) and member of advisory boards for Gaucher, MPS1, MPS2, and IEM with nutrition support. Member of European network for experts in neonatal screening. Member of group under Danish National Health Authorities that organise management for patients with rare disorders in Denmark on a national/regional level.
MD, Consultant Paediatrician, Paediatric Neurologist. Extensive clinical experience in diagnosing and treating children with neurometabolic disorders. Investigator on MLD and Morquio clinical trials.
Study Nurse. 3 years of experience of treating patients with LSD. Also experienced in evaluating clinical protocols and making ICFs.
For further information please visit the official website Rigs Hospitalet – Department of Clinical Genetics