Researchers define best practices of genome sequencing for patients with rare diseases

Genome sequencing has shown promise in becoming a first-tier diagnostic test for patients with rare genetic disorders, but standards addressing the definition and deployment of a best-in-class test are lacking. Two recent manuscripts published in npj Genomic Medicine present consensus…

Mayo Clinic researcher finds potential target to control rare genetic disease that strikes in teen years

Patients with a rare genetic disease called familial adenomatous polyposis, (FAP), often face debilitating challenges. Typically striking in the early teenage years, FAP is characterized by hundreds to thousands of tiny polyps forming in the colon and rectum and leading…