Related Experiment Video

Updated: May 9, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

The Finnish disease heritage database (FinDis) update-a database for the genes mutated in the Finnish disease

Anne Polvi1, Henna Linturi, Teppo Varilo

  • 1The Institute for Molecular Medicine Finland FIMM Technology Centre, University of Helsinki, Helsinki, Finland.

Human Mutation
|August 2, 2013
PubMed

Insights

The updated Finnish Disease Heritage Database (FinDis) now includes more genes and variants for rare monogenic diseases, enhancing diagnosis and research for these conditions.

Area of Science:

  • Genetics
  • Bioinformatics
  • Rare Diseases

Background:

  • The Finnish Disease Heritage Database (FinDis) was established in 2004 as a resource for rare monogenic diseases in Finland.
  • The initial database contained data for 30 diseases and 405 causative variants.
  • Significant advancements in genetic research since 1994 necessitated an update to the database.

Purpose of the Study:

  • To update and expand the Finnish Disease Heritage Database (FinDis) with current genetic information.
  • To enhance the database's utility for diagnosing rare monogenic diseases and supporting research.
  • To provide a standardized platform for sharing national genetic variation data.

Main Methods:

  • Collected and integrated updated information on genes and causative variants for rare monogenic diseases.
  • Utilized the LOVD 3.0 platform for organizing and managing variant data.
  • Developed a centralized portal and user interface to link disease, gene, and variant information.
  • Open-sourced the software to facilitate adoption by other institutions.

Main Results:

  • The updated FinDis database now includes 35 diseases, six additional genes, and over 1,400 new disease-causing variants.
  • The database is hosted on the LOVD 3.0 platform for efficient data management and updates.
  • A centralized portal provides a user-friendly interface for accessing linked disease, gene, and variant data.
  • The open-sourced software enables other countries to establish similar national databases.

Conclusions:

  • The enhanced FinDis portal is a valuable, centralized resource for rare monogenic diseases in Finland.
  • The updated database will significantly aid in patient diagnosis and accelerate research into new cures.
  • The open-source nature of the platform promotes international collaboration and standardization of genetic variation data.

Keywords:
FinlandLOVDcountry nodedatabasevariants

More Related Videos

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Generation of Comprehensive Thoracic Oncology Database - Tool for Translational Research11:18

Generation of Comprehensive Thoracic Oncology Database - Tool for Translational Research

Published on: January 22, 2011

Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
Next-generation Sequencing03:00

Next-generation Sequencing

The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
Genetic Screens02:46

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...