Professor Anette Bygum Department of Dermatology and Allergy Centre, Odense University Hospital
Project management
Project status
Active
Data collection dates
Start
01.11.2016
End
31.12.2040
Project in numbers
OPEN survey/clinical data
Expected # of participants
5,000
Included # of participants
585
OPEN Biobank
Expected participants with specimens
5,000
Included participants with specimens
357
Specimens
2,498
Research Database and Biobank of rare genodermatoses
Short summary
Database and biobank with basic patient data and diagnosis from patients interested in future research projects.
Rationale
About 1000 monogenic skin diseases exist and most of them are very rare. This database includes 3 groups of patients:
Patients with a clinical and genetic diagnosis, who may participate in future research projects, e.g. on therapy (personalized medicine)
Patients with a clinical diagnosis, that is not yet proved genetically, who would like to take part in molecular genetic testing
Patients with an unclear clinical diagnosis, but suspicion of a rare and hereditary skin disorder
The database can be used to recruit patients for future national or international studies.
Description of the cohort
All patients (adults and children with permission of parents) with possible rare genodermatoses are offered to participate in the database and will be recruited prospectively during planned visits.
Data and biological material
Basic clinical data of demographic features, diagnosis and diagnostic criteria are captured in the database.
2x0.75 ml serum, 2x0.75 ml plasma and buffy coat are stored in the biobank.
Collaborating researchers and departments
Department of Dermatology and Allergy Centre, Odense University Hospital
House officer & Associate professor Rasmus Overgaard Bach