2024-02-29 🌍Today is Rare Disease Day, a globally coordinated movement dedicated to addressing rare diseases. This initiative is committed to achieving equity in social opportunities, healthcare, and access to diagnosis and therapies for individuals living with rare diseases. Despite the ter...
Results: Over two years (2022-2024) 70 paediatric patients and 80 adult patients suspected of having a rare disease have been referred. A diagnosis has been provided to 8% of all adult and paediatric patients seen by the clinic. In those patients who have completed investigation and been disc...
Rare Disease DayHennessy Jr, MikeContemporary OB/GYN
Join the 14th World Congress on Rare Diseases and Orphan Drugs, June 2-3, 2025, in Amsterdam. Explore breakthroughs in research, treatment, and innovation to transform rare disease care globally.
Day 220/03/2025 Auditorium 1 8:00 am - Conference Registration and Welcome Coffee 8:30 am - Chairpersons Welcome and Opening Remarks LANDSCAPE OVERVIEW & CURRENT TRENDS 8:40 am - OPENING KEYNOTE PANEL: Progressing Rare disease diagnosis, care and treatment to improve health outcomes for patient...
Adoption of this reference is essential to improving the visibility of rare conditions in health systems across the world. Greater recognition of the burden of rare diseases will motivate new actions and policies to address the unmet needs of the rare disease community....
“As part of our commitment to supporting the rare disease community, Upsher-Smith is dedicated to not only maintaining, but enhancing the support and resources available to patients, caregivers, and healthcare practitioners. We encourage attendees to stop by our booths...
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes Article Open access 02 December 2024 The Korean Genetic Diagnosis Program for Rare Disease Phase II: outcomes of a 6-year national project Article 06 July 2023 Children’s rare disease cohorts:...
It has been popular and well-received, with a 2024 Net Promoter Score of 62. This concept was the precursor to development of the e-learning tool. On February 16th 2021 the charity published Rare Disease 101, an online course on the recognition and management of rare disease for clinicians ...
5:20 pm: PANEL DISCUSSION: Strategies to promote research discoveries and development of orphan products to improve the health of people with rare disease 6:00 pm - Chairperson's Closing Remarks — END OF DAY 1— Event sponsors Gold Sponsor Associate Sponsor Assocaite Sponsor Become a...