Bridging Gaps in Rare Disease Clinical Trials: Insights from Collaborative Success in Pompe Disease Research July 29, 2024 News FDA’s New Rare Disease Innovation Hub to Elevate Patient Care July 19, 2024 Asking the Right Questions: How the Patient Perspective Impacts the Success of Rare Dise...
Work Package 20 focuses on the validation, use and development of innovative methodologies for rare disease clinical trials. This paper reports on the outcomes of a retreat held in April 2023, where areas for innovation and educational needs in rare disease clinical trials were discussed in multi-...
Politically, there is a growing recognition of the need for stronger partnerships to tackle the challenges in rare disease research and therapy development. Results: Public-private partnerships (PPPs) are crucial for promoting innovation into precision therapy in healthcare, with the example of the ...
Germany is an innovation and research hub, which makes it a significant market for rare neurological disease treatments. Home to some of the best research institutions in the world, such as the Max Planck Institute and Fraunhofer Society, it also has well-developed pharmaceutical industries, includi...
(redirected fromRare earth metals) Thesaurus Encyclopedia Related to Rare earth metals:rare earth magnets rare earth n. 1.Any of various oxides of the rare-earth elements. 2.A rare-earth element. [rare(because the minerals from which the rare-earth elements were first isolated are uncommon) ...
With more than 6,000 different diseases comprising the rare disease (RD) landscape, connecting patients and practitioners with the expertise needed to achieve the correct diagnosis can be a significant barrier to treatment.
Whole genome sequences (WGS) enable discovery of rare variants which may contribute to missing heritability of coronary artery disease (CAD). To measure their contribution, we apply the GREML-LDMS-I approach to WGS of 4949 cases and 17,494 controls of European ancestry from the NHLBI TOPMed pr...
This will have a major added value to rare disease research, by optimising the chances of success of planned clinical trials. Acknowledgements This initiative has received funding from the European Union's Hori- zon 2020 research and innovation programme under grant agreement N°825575. The ...
Hereto, we obtained 58,393 genomic coordinates from variants known in the VKGL and/or ClinVar databases to cause autosomal dominant/recessive disease (Additional file 1: Table S4) and determined the sequence coverage for those positions across 35 genomes. For 99.5% of variants, the minimal ...
Germline copy number variants (CNVs) are pervasive in the human genome but potential disease associations with rare CNVs have not been comprehensively assessed in large datasets. We analysed rare CNVs in genes and non-coding regions for 86,788 breast can