Rare diseases are rare, often inherited, and can have long-term severely disabling, most Mendelian disorders are rare diseases. Nowadays, about 8,000 Mendelian diseases and with 6–8% of people having a rare disease at some point during life. A particular rare disease is so rare that patients with rare diseases have to face diagnostic delays or undiagnostic, not to speak of treatment. Patients suffering from a rare disease are likely to harbor causing variants, which are rare and with deleterious effects. Gene discovery is an essential starting point for both understanding the genetic mechanisms underlying diseases and for providing clues to therapeutic approaches. The family-based especially NGS-based strategy (shown below) has widely applied in genetic disease and rare disease gene discovery study, and there are many resources contributes to the acceleration of research and development in the field of genetic disease and rare diseases.


GDRD is an integrated platform for Genetic Disease and Rare Disease research and application which focus on human genetic data, and phenotype data. To accelerate data sharing, exchange, and cooperation, we will constantly collect family information, genetic variant and cause mutation from publications and collaborators all over the world. Now, around 10,000 causing variants from clinVar and OMIM have organized and presented on our website as an initiate of this platform. Subsequently, GDRD will aggregate sequencing data and phenotypic characters from a variety of genetic disease and rare disease research projects in BGI and collaborators. At least 3,000 individuals from 2000 families will be involved in the next stage.


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