The Current Landscape of SYNGAP1-Related Disorders
Mike Graglia, Co-Founder & Managing Director of the SynGAP Research Fund, discusses the current landscape of SYNGAP1-related disorders (SRD).
Related Articles
Evaluating Nerandomilast in Patients With Rare Pulmonary Fibrotic Conditions
Leticia Orsatti, MD, discusses results from clinical trials evaluating nerandomilast in patients with IPF or PPF.
2025 Orphan Drugs: PDUFA Dates and FDA Approvals
Almost half of all novel medications approved by the U.S. Food and Drug Administration (FDA) are orphan drugs. Below is the list of important regulatory…
Priority Review Voucher Tracking
The Priority Review Voucher (PRV) program incentivizes the development of drugs for rare pediatric and tropical diseases.
Tenosynovial Giant Cell Tumor (TGCT)
Tenosynovial giant cell tumor (TGCT) is a rare benign tumor involving the joint synovium, bursae, and tendon sheath.
Disease Severity and Progression in Patients With ENPP1 Deficiency
Matt Winton, PhD, Inozyme Pharma, discusses an analysis characterizing disease severity and progression in patients with ENPP1 deficiency.
Rare Disease Recognition and Awareness Days
Stay informed with our comprehensive calendar of rare disease awareness days, highlighting key dates and resources.
A Family’s Experience With ALSP
Erin Sullivan, Executive Director of Sisters’ Hope Foundation, discusses her family’s experience with ALSP.
Genetic Testing for WHIM Syndrome
Jolan Walter, PhD, MD, Division Chief of Pediatric Allergy and Immunology at the University of South Florida, discusses genetic testing for WHIM syndrome.
Video Conferencing, Web Conferencing, Webinars, Screen Sharing
Zoom is the leader in modern enterprise video communications, with an easy, reliable cloud platform for video and audio conferencing, chat, and webinars across mobile,…
Repurposing Shelved Assets for Rare Diseases
Annette Bakker, PhD, Chief Executive Officer of the Children’s Tumor Foundation, discusses repurposing shelved assets for rare diseases.