Health ❯Pediatrics

Rare Diseases

Genetic Testing Urea Cycle Disorders Genetic Disorders Metabolic Disorders Wolf-Hirschhorn Syndrome CPS1 Deficiency Innovative Therapies Treatment Options

Small-Molecule Precursors Restore CoQ10 and Reverse Neurological Decline in HPDL Deficiency

The Nature paper introduces a translational framework for testing CoQ10 headgroup intermediates in clinical trials

Proteomic Test Cuts Childhood Rare Disease Diagnosis to Under Three Days

First Personalized CRISPR Therapy Successfully Treats Infant’s Rare Genetic Disorder