Several novel therapeutic approaches to treating DMD are in the pipeline.

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.

Platelet transfusions are often administered to reduce bleeding risk in FNAIT, and there is new research on umbilical cord blood-derived platelet products.

Currently, the diagnostic process of Gaucher disease often results in unnecessary delays and is thus prime for an overhaul.

Generalized pustular psoriasis (GPP) contributes to consistently negative outcomes across various quality of life parameters.

To make a real difference in the lives of patients with SCD, there should be a focus on optimizing care across a vast spectrum of concerns.

With the characterization of IgG4-RD, this disease can finally be managed in a comprehensive manner—provided that it is correctly diagnosed, of course.