An autoimmune disease, AIHA is considered one of the most frequent hematologic manifestations of SLE, also an autoimmune condition.

Abby Bronson advocates for those with Becker muscular dystrophy, which can have severe consequences on mobility and quality of life.

Using real-world data, researchers assessed the glucocorticoid-sparing ability of rituximab in adult patients with IgG4-RD and found it was efficacious.

Matthew Might, PhD, realized something was wrong with his baby boy, so he pivoted to precision medicine, using AI to try to find a treatment for his child.

In the setting of genetic susceptibility to SSc, antibodies trigger endothelial-to-mesenchymal transition of the vessels, per recent research.

Test your knowledge about the care team for HAE with this short quiz and see how your responses compare to those of others.

Results of a prognostic modeling study support peripheral frataxin quantification as a surrogate endpoint in clinical trials.

In Duchenne muscular dystrophy (DMD), exon-skipping therapy has transformed from an experimental approach to an established treatment.

Therapeutic ultrasound combined with conventional physiotherapy proved superior to infrared therapy in patients with hemophilia, according to a recent study.

Muscle weakness, more than neuropathy, strongly predicted impaired mobility and gait in adult survivors of childhood ALL.

Intravenous infusion of mesenchymal stromal cells derived from umbilical tissue appears safe, with early evidence of effectiveness in NMOSD.

The use of annual imaging following transsphenoidal surgery may be unnecessary in patients with acromegaly in biochemical remission.

Researchers discussed the probable link between primary biliary cholangitis (PBC) and Parkinson disease in a recent review.

The Genetic Alliance's iHope program has provided genetic testing for 3000 patients and now has 25 sites in low- and middle-income countries.

Discover how the Genetic Alliance is transforming healthcare and supporting families with rare disease programs.

Avapritinib showed notable grade 3 and higher cytopenias but fewer discontinuations, suggesting manageable toxicity with monitoring.

A plasma proteomic signature that identifies cardiac involvement in Fabry disease may enable earlier detection and risk stratification.

Osteoporosis, fractures, and low BMD are common in patients with DMD who take corticosteroids, with vertebral fractures likely underdiagnosed.

The levels of APEX1 in the serum could be used as a diagnostic biomarker in cholangiocarcinoma (CCA) and hepatocellular carcinoma (HCC), research shows.

An analysis of US insurance claims showed that cannabidiol reduced polypharmacy, ASM cycling, and health care use in LGS, DS, and TSC.

New research shows RBC transfusions are independently associated with brain injury in preterm infants, with risk increasing with each transfusion.

Pyramidal signs are an early clinical feature in Huntington disease (HD) that may indicate proximity to disease onset.

Selinexor in combination with ruxolitinib achieved a statistically significant improvement in spleen volume reduction for patients with MF, according to a press release.

Rituximab produced sustained 5-year remission in a case of steroid- and CNI-dependent adult focal segmental glomerulosclerosis (FSGS).

Adolescents and young adults who care for parents with HD experience disrupted development compounded by awareness of their own risk.

Researchers developed a system that maps the cellular stress responses driven by specific mtDNA maintenance genes at single-cell resolution.

Surgery, whether focal resection or corpus callosotomy, can meaningfully reduce generalized tonic seizures, a common seizure type in LGS.

In MG patients with thymoma who received ICIs, severe immune reactions were common, with germinal centers potentially indicating higher risk.

A recently published study supports the notion that Wilson disease is a single-gene disorder.

The FDA has approved the Investigational New Drug application for YOLT-202, an in vivo gene-editing therapy for AATD.

Patients with type 3 Gaucher disease (GD) on long-term ERT showed meaningful improvement in neurological symptoms with daily ambroxol.

Per recent research, longer participation in a virtual maternity program may correlate with a lower risk of adverse neonatal outcomes, such as HDFN.

The European Commission has approved doxecitine and doxribtimine, the first therapy for pediatric and adult patients with TK2d.

DCTPP1 modulates dNTP pool balance, which is disrupted in TK2d and related syndromes, and shows promise as a therapeutic target in MNGIE.

An increase in IgG4 levels over time, rather than a single-timepoint IgG4 measurement, can predict relapse in IgG4-RD, according to recent research.

Children aged 2 to 11 years with HAE may soon benefit from sebetralstat, the first oral on-demand treatment option for their age group.

Biogen announced that the FDA has approved a high-dose regimen of nusinersen for the treatment of SMA in pediatric and adult patients.

There seems to be a microbiota-metabolite-oxidative stress axis involving metabolic dysregulation in the pathogenesis of IPF.

Vutrisiran produced consistent improvements in neuropathy impairment, quality of life, walking speed, and disability in patients with ATTR-PN, per a recent study.

Metabolic syndrome, but not steatotic liver disease associated with metabolic dysfunction, is associated with advanced fibrosis in PBC, research shows.