Proactive management of skin reactions to mirdametinib, a treatment for NF1-associated plexiform neurofibromas, may improve ...

FCS requires careful monitoring during pregnancy to limit the risk for acute pancreatitis, which threatens both fetal and ...

A Finnish cohort study showed that patients with acromegaly had a 59% higher hazard of cardiovascular morbidity than matched ...

Clinicians in India reported what may be the first case of FCS caused by a homozygous LMF1 variant diagnosed in infancy.

Treatment with antenatal IVIG and steroids protected a second sibling from developing the bleeding symptoms and other ...

Progressive pulmonary fibrosis (PPF) may develop as part of post-tuberculosis lung disease, according to a new study.

PSVD-spectrum portal venopathy was identified in 3 patients with ACA-positive PBC-spectrum with PH despite noncirrhotic liver ...

The global phase 2 T-RRex study has opened an MRD-positive cohort evaluating Sofi-cel in patients with T-ALL/T-LBL.

Aarush approached Veer with a novel concept: using AI to create a public, searchable free platform built exclusively for rare diseases.

Increased emphasis has focused on parent-led and other nonpharmacologic approaches intended to support the well-being of ...

Since the adoption of newborn screening for SMA, onasemnogene abeparvovec has become the most common first-line therapy in US infants.

Seladelpar produced broad, dose-dependent serum metabolomic changes consistent with enhanced fatty acid β-oxidation in PBC.