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.

To better achieve clinical progress, therapeutic goals in myasthenia gravis must be objectively and unambiguously defined.

Deciding when and how to treat chronic lymphocytic leukemia (CLL) remains challenging, with MRD-guided strategies offering new insights.

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.