BEIJING, July 24 (Xinhua) -- With her lovely face and sweet voice, Wang Yi'ou might seem like an ordinary person, aside from her diminutive stature, standing at a mere 1.4 meters tall. However, this 42-year-old lives with brittle bone disease and recently captured the spotlight with her...
BEIJING, Feb. 18 (Xinhua) -- China will establish a national collaborative network of hospitals for rare disease diagnosis and treatment to promote the early detection and effective treatment of such diseases, according to a decision by the National Health Commission (NHC). Comprised of 324 hospit...
The collaborative network approach: a new framework to accelerate Castleman's dis- ease and other rare disease research. Lancet Haematol. 2016;3(4): e150-e175.Fajgenbaum DC, Ruth JR, Kelleher D, Rubenstein AH (2016) The collaborative network approach: a new framework to accelerate Castleman'...
CSL Behring is a global biotech company leading the way to deliver innovative therapies for rare and serious diseases.
pooled from forty-three rare disease-related data resources, which can be found in the supplemental file named “NGKG Resources”. Furthermore, instead of mining the entire NGKG, only GBM-associated subgraphs based on pre-calculated disease clusters were derived, and multiple network analysis ...
Collaborative research efforts and related activities of the Office of Rare Diseases Research at the USA National Institutes of HealthRare diseasesOrphan diseaseResearch collaborationorphan drugsorphan productsOffice of Rare diseases researchlt;pgt;lt;stronggt;Introductionlt;/stronggt;: Rare diseases present...
we used a multilayer network as a means to perform dimensionality reduction tasks for patient stratification in medulloblastoma, a childhood brain tumor110. Here, we started by analyzing DisGeNET data in order to verify that disease-associated genes tend to belong to the same multilayer communities....
Member Adult Rare Disease Multi-Stakeholder Collaborate Initiative – Pfizer Rare Champion of Hope Awardee 2019 from Global Gene Member of the Panel of Expert -WHO Collaborative Global Network for Rare Diseases program (CGN4RD) Advisory Council Member – Karnataka Hemophilia Society, Davangere ...
Towards FAIRification of sensitive and fragmented rare disease patient data: challenges and solutions in European reference network registries. Orphanet J Rare Dis. 2022;17(1):436. https://doi.org/10.1186/s13023-022-02558-5. Article Google Scholar Hageman IC, van Rooij IALM, de Blaauw I, ...
EyeGENE, an NEI-sponsored collaborative network for ophthalmic research, is helping diagnose patients with eye-related genetic diseases while enabling researchers to study and characterize these rare conditions. Through a network of federally certified molecular diagnostic testing labs, patients...