Description: Although rare genetic diseases are individually rare, they are collectively common, affecting as much as 3% of the world population rare disease gene discovery model organisms scientist registry catalyst funding
global (4190) rare disease (102) research collaboration (15) gene discovery (2) model organisms (2) scientist registry (2) catalyst funding (2) rdmm international (2) rare diseases models and mechanisms (2)
Although rare genetic diseases are individually rare, they are collectively common, affecting as much as 3% of the world population. In aggregate, they present great healthcare challenges, contributing significantly to morbidity, mortality, and cost of care. The application of next-generation DNA sequencing technology has brought an unprecedented era of rare disease gene discovery (~300 new rare disease genes per year). Following a disease gene discovery by a clinician scientist, key immediate goals are to
Model organisms (MO) provide powerful tools for investigating the mechanistic basis of diseases, for identifying and developing potential therapeutic interventions, and for evaluating new treatments. Therefore, it is important to establish efficient mechanisms for catalyzing connections, collaboration, and cross-talk between clinician and basic scientists, immediately following a new rare disease gene discovery.