About the project
The web-site aims to provide up-to-date information on 36 monogenic diseases belonging to the Finnish disease heritage. For each disease, the prevalence or incidence and a short description of clinical symptoms are provided, as well as genetic locus and a molecular description for identified mutations. Up-to-date information on genes is provided on underlying community curated LOVD databases linked on the gene page.
The database update and initial curation of genes were done as part of GEN2PHEN project for testing concepts like LGR - locus reference record ,VarioML format and Cafe Variome - discovery platform developed there. Results, including non Finnish variants as well, were submited to dbSNP. For more information, see the paper, "The Finnish Disease Heritage Database (FinDis) update“ a database for the genes mutated in the Finnish Disease Heritage brought to the next-generation sequencing era", published in the journal Human Mutation.
Authors and Contact Information Findis.org was originally developed and maintained by the Department of Medical Genetics, University of Helsinki and the Department of Molecular Medicine, National Public Health Institute, Finland.
The original authors are:Anna-Kaisa Anttonen, MD
Kristiina Avela, MD PhD
Pertti Aula, professor
Leena Peltonen, Academy professor
The follow-up authors are:Henna Linturi
Anne Polvi, PhD
Kestilä Marjo, MD, PhD
Juha Muilu, PhD
Funding for the database has been provided by the Academy of Finland, Center of Excellence in Disease Genetics, Biomedinfra, and the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement number 200754 - the GEN2PHEN project.
FinDis uses live data from the Leiden Open Variation Database project. The FinDis team worked closely with the LOVD team to provide these resources, in particular receiving crucial expert assistance and support from Ivo F.A.C Fokkema, of the Department of Human Genetics, Leiden University Medical Center (LUMC), NL.
The authors wish to thank these gene database curators for their co-operation, and for providing data for use in FinDis:David Baux (CHM and CLRN1)
Sara Mole (PPT1, CLN3, CLN5 and CLN8)
Roberto Perniola and Mauno Vihinen (AIRE)
Johan den Dunnen and Markus Preising (RS1)
Eva Trevisson and Mara Doimo (OAT).
We also wish to thank those curators who took responsibility for the databases provided, for their co-operation and help:Tarja Joensuu and Anna-Elina Lehesjoki (CSTB)
Kaisa Kettunen (TRIM37)
Tuula Lönnqvist (C10orf2)
Annika Siitonen (RECQL4)
Jonna Talila (CC2D2A, CEP290, MKS1)
We also thank our data checkers and proofreaders:Ville Muilu
Credits Finland-centered globe is from a presentation by Prof. Leena Peltonen-Palotie.