Rare disease
Dispelling myths about rare disease registry system development.
... a disease repository, disease registry, con- tact registry and a disease or patient database? What is the difference between a research ‘cohort’ (eg EuroCYST [10]) and an audit registry (eg the UK ...
8
The European Union Committee of Experts on Rare Diseases: three productive years at the service of the rare disease community.
... the rare disease ...pean rare disease policy in the coming ...on Rare Diseases, which replaces the EUCERD as of January 2014, will be as efficient and productive as the former Committee ...
8
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome
... for rare diseases to have maximal visibility to avoid adding treatment delay to the rare disease diagnos- tic odyssey that often deprives patients and families of diagnosis over a significant ...
12
Detection of clusters of a rare disease over a large territory: performance of cluster detection methods
... Results: Three situations emerged from this power study. All the methods failed to detect the smallest clusters with a relative risk lower than 3.0. The power to detect the largest cluster with relative risk of 1.5 was ...
13
The European Union Committee of Experts on Rare Diseases (EUCERD): a new committee to help the European Commission advance in the field of rare disease policy
... on Rare Diseases (EUCERD): a new committee to help the European Commission advance in the field of rare disease ...of Rare Diseases 2010 5(Suppl ...
2
State of the art of rare disease activities in Europe: a EUCERD perspective
... Published: 22 November 2012 Reference 1. Aymé S, Rodwell C: EUCERD Report: 2012 Report on the State of the Art of Rare Diseases Activities in Europe - Part I: Overview of Rare Disease Activities in ...
4
Raising rare disease awareness using red flags, role play simulation and patient educators: results of a novel educational workshop on Raynaud phenomenon and systemic sclerosis
... Raising rare disease awareness using red flags, role play simulation and patient educators: results of a novel educational workshop on Raynaud phenomenon and systemic sclerosis.[r] ...
11
Correction: Dispelling myths about rare disease registry system development.
... Acknowledgements The authors received funding from the Australian National Health and Medical Research Council (APP1055319) and EU FP7 Project (HEALTH.2012.2.1.1-1-C): RD Connect: An integrated platform connecting ...
2
Phenotypic similarity for rare disease: ciliopathy diagnoses and subtyping
... identifying rare disease patients with EHR data, which was developed in Necker Children’s Hospital (Garcelon et ...pleiotropic rare diseases. This type of complex rare disease requires ...
22
The Angelman Approach : hacking DNA to treat a rare disease
... So rather than trying to rev up CAMKII in humans, something scientists currently do not know how to do, Weeber now hopes to treat Angelman Syndrome by using an AAV to p[r] ...
20
Liste des posters présentés à RARE 2017
... P70 • RD-Connect: data sharing and analysis for rare disease research within the integrated platform and through GA4GH Beacon and Matchmaker Exchange. Beltran S., Piscia D., Laurie S., Protasio J., Cañada ...
2
Economic inequality caused by feedbacks between poverty and the dynamics of a rare tropical disease: the case of Buruli ulcer in sub-Saharan Africa
... skin disease that caused less than 3000 cases worldwide in 2013, but with more than 90% of the global burden concentrated in sub- Saharan Africa ...the disease makes it particularly devastating in endemic ...
9
Cervical spondylolysis : a rare fortuitous finding
... C o n C l u s i o n Nous rapportons le cas d’une spondylolyse unilatérale C6 droite. Il s’agit d’une pathologie rare dont le diagnostic est, dans la plupart des cas, fortuit. La physiopathogénie n’est pas com- ...
3
An association test to detect clustered disease-risk rare variants
... of rare vari- ants on complex ...“common disease-common variant” para- digm, rare variant studies are necessary to get a more complete insight into the genetic architecture of human ...these ...
21
Rare Earth Elements in wetlands
... (2008) Rare earth elements (REE) and yttrium in stream waters, stream sediments, and Fe–Mn oxyhydroxides: fractionation, speciation, and controls over REE + Y patterns in the s[r] ...
59
Rare Events for Stationary Processes
... Unité de recherche INRIA Lorraine, Technopôle de Nancy-Brabois, Campus scientifique, 615 rue du Jardin Botanique, BP 101, 54600 VILLERS LÈS NANCY Unité de recherche INRIA Rennes, Irisa, [r] ...
39
Une présentation rare de craniosténose associée à un crâne lacunaire
... présentation rare de craniosténose associée à un crâne lacunaire i ntRoduction Le crâne lacunaire (CL), également appelé Craniolacunia, Craniofenestrae ou Lückenschä- del, est une entité habituellement associée ...
4
Chroniques génomiques - Rare is frequent
... Rare is frequent 3 Selon les données de Tennessen et al. [8], moins de 100 000 variants sur les 500 000 détectés sont trouvés à la fois chez les Européens et les Afro-Américains. Figure 2. Répartition de SNV ...
4
Une maladie génétique rare : le déficit multiple en sulfatases
... chromatique [2, 3] est caractérisée par des défi- cits plus ou moins pro- fonds de toutes les sulfa- tases connues. Un second gène nécessaire à l’ex- pression de sulfatases actives a été identifié dans les années 1980 ...
3
Spatio-Temporal Saliency Based on RARE Model
... Index Terms— Visual attention, Saliency, Rarity Mechanism, Optical Flow 1. INTRODUCTION The aim of visual saliency models is to automatically predict human attention. The term attention refers to the process that allows ...
6