Congenital, Hereditary, and Neonatal Diseases and Abnormalities: News and Research on Congenital Disorders of Glycosylation

MeSH tree: C16.320.565.202.125

RNA sequencing platform unlocks rare disease diagnoses missed by standard tests

Researchers from Children's Hospital of Philadelphia (CHOP) developed a new RNA sequencing strategy that can reveal how genetic variants disrupt gene function and improve the diagnosis of rare diseases.

Apr 15, 2026

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Newly identified RPN1 disease helps explain how protein damage can disrupt early brain development

Scientists at Sanford Burnham Prebys Medical Discovery Institute and an international team of collaborators have used a genetic sequencing technique called whole exome sequencing to discover a new rare genetic disease. In ...

Apr 13, 2026

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