February 29th is the International Rare Disease Day. During the week preceding the Rare Disease Day there will be info sessions in Oulu on research and treatment of rare diseases in Northern Finland.
Rare Disease is a generic term for diseases with a prevalence of less than 5 / 10,000 people. These diseases are very diverse in severity and manifestation and occur in all age groups and in all medical specialties. However, rare diseases are more common than usually thought. A total of 6,000 to 8,000 different types of rare diseases are known worldwide, 72% of which are hereditary. In Finland, some 300,000 people have a rare disease.
The aim of the Rare Diseases Week program is to provide information on rare diseases, their research and treatment in Northern Finland.
Monday 24.2.2020 at 11.30-12.30 (in Finnish)
Rare Diseases are Common – About the Rare Diseases and Rare Disease Unit at OYS
Outi Kuismin, Assistant Chief Physician, Coordinator, Department of Clinical Genetics and Rare Diseases Unit, Oulu University Hospital
Comments by the patient association
Wednesday 26.2.2020 at 11.30-12.30 (in Finnish)
Research on Rare Neurological Diseases in Oulu
Kari Majamaa, Professor of Neurology, University of Oulu; Chief of Neurology, Dermatology and Geriatrics, Oulu University Hospital and Anne Remes, Professor of Neurology, Dean, University of Oulu
Friday 28.2.2020 at 11.30-12.30 (in English)
From Bedside to Bench and Vice versa: Focus on the previously undefined NHLRC2 gene associated with novel FINCA disease and other neurological phenotypes
Johanna Uusimaa, Professor of Paediatric Neurology, PEDEGO Research Unit, University of Oulu; Chief Physician, Paediatric Neurology Unit, Oulu University Hospital and Reetta Hinttala, Associate Professor, PEDEGO Research Unit; Coordinator of the Transgenic Core Facility, Biocenter Oulu, University of Oulu
The event will be hosted and interviewed by Simo Kekäläinen from the University of Oulu.
The events are free and open to both professionals and anyone interested. A light lunch for the first 50 is served at each event.
Last updated: 12.2.2020