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New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases

April 16, 2020

Accurate diagnosis is the cornerstone of medicine; it is essential for informed care and promoting patient and family well-being. However, families with a rare genetic disease (RGD) often spend more than five years on a diagnostic odyssey of specialist visits and invasive testing that is lengthy, costly, and often futile, as 50% of patients do not receive a molecular diagnosis.

Spotlight

Sirius Genomics

Sirius Genomics is a private biotechnology company based in Vancouver, British Columbia. By correlating genes to phenotypes, we are developing DNA-based diagnostic (Dx) and pharmacogenetic (PGx) tests for critical care.

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