Drs. Patrick McKiernan and Nadia Ovchinsky discuss the recently published guidance on best practices to diagnose, treat, and monitor patients with progressive familial intrahepatic cholestasis (PFIC).
The Priority Review Voucher (PRV) program incentivizes the development of drugs for rare pediatric and tropical diseases.
Tenosynovial giant cell tumor (TGCT) is a rare benign tumor involving the joint synovium, bursae, and tendon sheath.
Matt Winton, PhD, Inozyme Pharma, discusses an analysis characterizing disease severity and progression in patients with ENPP1 deficiency.
Stay informed with our comprehensive calendar of rare disease awareness days, highlighting key dates and resources.
Erin Sullivan, Executive Director of Sisters’ Hope Foundation, discusses her family’s experience with ALSP.
Jolan Walter, PhD, MD, Division Chief of Pediatric Allergy and Immunology at the University of South Florida, discusses genetic testing for WHIM syndrome.
Mike Graglia, Co-Founder & Managing Director of the SynGAP Research Fund, discusses the current landscape of SYNGAP1-related disorders (SRD).
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Annette Bakker, PhD, Chief Executive Officer of the Children’s Tumor Foundation, discusses repurposing shelved assets for rare diseases.
Kimberly LeBlanc, Director of the Undiagnosed Diseases Network Coordinating Center, discusses approaching variants of uncertain significance.
