Intrathecal onasemnogene abeparvovec aims to address the genetic root cause of SMA by replacing the SMN1 gene in a single dose.

After starting in clinical medicine at her parents' urging, Dr. Vincent switched to her field of interest: basic research.

Orthopedic management plays a central role in the care of patients with achondroplasia.

TK2d has long existed in a therapeutic void, with patients having few, if any, disease-modifying treatment options.

Lyza Weisman spoke at the recent MDA Clinical & Scientific Conference of no longer being able to do the 'little things' that make a life.

Studies show that ANCA seropositivity can be immensely useful in helping physicians identify a likely final diagnosis.

Healthcare professionals generally agree that genetic testing can be useful in the HAE diagnostic process, but many urge caution in interpreting results.

Current evidence suggests there are 8 key areas of emerging importance in diagnosing and managing Gaucher disease.

Biomarkers are increasingly recognized for their use in diagnosing and tracking disability progression in NMOSD.

The prevalence of PBC is expected to rise in the United States and the wider world, requiring concrete, proactive action.