About the Finnish Disease Database project


FinDis provides 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. The character and consequences of all known mutations, Finnish and foreign, are described at the DNA and polypeptide level. Disease allele frequencies are typically reported for Finnish mutations.

The target audience of the database is researchers and clinicians working in this field. Information for the database has been gathered from researchers, original and review publications, and reliable websites. The database follows the Quality Criteria for Health Related Websites recommended by the European Commission.

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.


Dedication:
Professor Leena Peltonen

The original idea for the FinDis database came from late Professor Leena Peltonen-Palotie, whose group established a centralized database for the genes and mutations behind the Finnish disease heritage. In updating FinDis, we continue along the lines of her far-sighted vision for deriving health benefits from the Finnish genome.



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.

Findis.org is now updated by The Institute for Molecular Medicine Finland (FIMM), University of Helsinki and Institute for Health and Welfare.

The original authors are:

Anna-Kaisa Anttonen, MD
Anthony Metzidis,
Kristiina Avela, MD PhD
Pertti Aula, professor
Leena Peltonen, Academy professor

The follow-up authors are:

Henna Linturi
Anne Polvi, PhD
Henrikki Almusa
Kestilä Marjo, MD, PhD
Juha Muilu, PhD

The database is currently being updated by:

Current update by: Anne Polvi, PhD  1.6.2012 - 28.2.2013
Juha Muilu, PhD
Myles Byrne



Acknowledgements

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.

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
 André Bombino


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.



Credits

Finland-centered globe is from a presentation by Prof. Leena Peltonen-Palotie.

Homepage image of Finland is a detail from an image by Jokkebk.



Archive

The original FinDis site can be viewed here: http://findis.org/archive.




FinDis has received funding from the Academy of Finland, Center of Excellence in Disease Genetics
and the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement number 200754 - the GEN2PHEN project.