Health ❯Healthcare ❯Genetics

Rare Diseases

Enzyme Deficiencies Phenylketonuria Diagnostic Testing Leigh's Disease Diagnosis Challenges

Proteomic Test Cuts Childhood Rare Disease Diagnosis to Under Three Days

Functional protein profiling from a one-milliliter blood sample in under three days could end the prolonged testing journeys families endure

Germany Advances Newborn Screening with Genomic Testing Initiative