Featured Articles

Fabry nephropathy: a treatable cause of chronic kidney disease

Investigating Fabry disease - some lessons learned

Gene therapy for Dravet syndrome: promises and impact on disease trigger and secondary modifications

Managing pregnancy in women with sickle cell disease: a focus on physiopathology, risks, and multidisciplinary care

Gene therapy for inborn errors of immunity: past progress, current status and future directions

The dynamic and urgent path of rare disease and orphan drug research

Applications and prospects of machine learning in the diagnosis and treatment of SLE

Immunotherapeutic advances for the treatment of osteosarcoma, driven by studies in pet dogs with spontaneous disease

Diagnosis and therapy of Niemann-Pick disease type C1- what have we learned that can help veterinary patients?

Adeno-associated viral vector gene therapy for canine hemophilia

Management strategies for systemic lupus erythematosus using kinase inhibitors

Measurement of Achilles tendon thickness using ultrasonography for diagnosis and risk assessment in patients with familial hypercholesterolemia

Electroencephalogram (EEG) network-level excitation-inhibition in GRIN2B-related neurodevelopmental disorders: a pilot case-control series

Organellar crosstalk as a potential therapeutic target for rare neurodegenerative diseases

The European joint programme on rare diseases: building the rare diseases research ecosystem

The complexity of funding rare disease research: an IRDiRC assessment of the landscape

The division of rare diseases research innovation at the national center for advancing translational sciences, NIH: mission, history, and current research activities

Biomarkers in anderson-Fabry disease: what should we use in the clinical practice?