Dr. Sonal Kumar, discusses the integral role of the patient voice in navigating disease progression and determining an individualized care plan for people living with PBC that reflects their needs and treatment goals.
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).
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,…
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.
Sanjay Ahuja, MD, Pediatric Hematologist, discusses the FDA approval of Qfitlia (fitusiran) for patients with hemophilia A or B.
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…
Yuliya Linhares, MD, Chief of Lymphoma Services at Miami Cancer Institute, discusses strategies for shortening the diagnostic journey of CTCL.
