GDRD

GDRD(Genetic Disease and Rare Disease) is a comprehensive database platform for Genetic Disease and Rare Disease; rare genetic diseases are our primary concern at present. The mission of our platform is to accelerate scientific discovery, clinical application, and methodology development in this field. Rare diseases are rare, often inherited, and can have long-term severely disabling, most Mendelian disorders are rare diseases. Nowadays, about 7,000 Mendelian diseases and with 6–8% of people having a rare disease at some point during life. Patients suffering from a rare disease are likely to harbor causing variants, which are rare and with deleterious effects. A particular rare disease is so rare that patients with rare diseases have to face diagnostic delays or undiagnostic. The NGS-based strategy has widely applied in Genetic testing and causative gene discovery. But, the ‘rarity’ of a particular rare disease still a challenge, we launched GDRD to address this challenge, and welcome the entire rare disease scientific and clinical community to join us.