Genetics

Outreach to families of minority patients may help identify genetic disorder

Clinical meaningfulness is a different question, however

Lung function, BMI, bacterial swabs, sweat chloride levels also improved

Pilot study suggests early testing for seizures, regardless of treatment setting

Pozelimab reduced hospitalizations, albumin transfusions in CHAPLE disease patients

Early-phase data suggest a dose that can keep bilirubin in check without hours of phototherapy

Shift away from blanket restrictions is not placing top-tier athletes at undue risk, data suggest

Whole genome scans took longer than a commercially available test, but not for most urgent cases

Findings mark a significant breakthrough in understanding how MS progresses

Challenges of drug development in fibrodysplasia ossificans progressiva on full display

Large study supports wider screening of family members of probands

Metreleptin doses several times higher than recommended brought weight down to near normal

Success observed in usually contraindicated Marfan, Loeys-Dietz syndromes

Future treatments don't have to be limited to slowing disease, case series suggests