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https://www.readbyqxmd.com/read/29625023/identification-of-misclassified-clinvar-variants-via-disease-population-prevalence
#1
Naisha Shah, Ying-Chen Claire Hou, Hung-Chun Yu, Rachana Sainger, C Thomas Caskey, J Craig Venter, Amalio Telenti
There is a significant interest in the standardized classification of human genetic variants. We used whole-genome sequence data from 10,495 unrelated individuals to contrast population frequency of pathogenic variants to the expected population prevalence of the disease. Analyses included the ACMG-recommended 59 gene-condition sets for incidental findings and 463 genes associated with 265 OrphaNet conditions. A total of 25,505 variants were used to identify patterns of inflation (i.e., excess genetic risk and misclassification)...
April 5, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29588993/common-terms-for-rare-epilepsies-synonyms-associated-terms-and-links-to-structured-vocabularies
#2
Zachary M Grinspan, Niu Tian, Elissa G Yozawitz, Patricia E McGoldrick, Steven M Wolf, Tiffani L McDonough, Aaron Nelson, Baria Hafeez, Stephen B Johnson, Dale C Hesdorffer
Identifying individuals with rare epilepsy syndromes in electronic data sources is difficult, in part because of missing codes in the International Classification of Diseases (ICD) system. Our objectives were the following: (1) to describe the representation of rare epilepsies in other medical vocabularies, to identify gaps; and (2) to compile synonyms and associated terms for rare epilepsies, to facilitate text and natural language processing tools for cohort identification and population-based surveillance...
March 2018: Epilepsia Open
https://www.readbyqxmd.com/read/29560273/large-scale-computational-drug-repositioning-to-find-treatments-for-rare-diseases
#3
Rajiv Gandhi Govindaraj, Misagh Naderi, Manali Singha, Jeffrey Lemoine, Michal Brylinski
Rare, or orphan, diseases are conditions afflicting a small subset of people in a population. Although these disorders collectively pose significant health care problems, drug companies require government incentives to develop drugs for rare diseases due to extremely limited individual markets. Computer-aided drug repositioning, i.e., finding new indications for existing drugs, is a cheaper and faster alternative to traditional drug discovery offering a promising venue for orphan drug research. Structure-based matching of drug-binding pockets is among the most promising computational techniques to inform drug repositioning...
2018: NPJ Systems Biology and Applications
https://www.readbyqxmd.com/read/29445842/-rare-diseases-in-dentistry-and-oral-medicine-report-on-the-2017-first-national-congress
#4
Marcel Hanisch, Susanne Jung, Johannes Kleinheinz
On November 25, the first national congress for rare diseases in dentistry and oral medicine under the auspices of ACHSE e. V. and Orphanet was held in Muenster. With speakers from the field of medicine, dentistry, politics, patient advocacy groups, self-help groups and persons concerned, a platform for exchange between physicians and patients on an equal footing was offered to the participants. At the end of each of the 12 lectures, more than 300 national and international guests discussed the various issues and perspectives related to the topic of rare diseases in dentistry and oral medicine...
February 14, 2018: Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz
https://www.readbyqxmd.com/read/29425702/harmonising-phenomics-information-for-a-better-interoperability-in-the-rare-disease-field
#5
REVIEW
Sylvie Maiella, Annie Olry, Marc Hanauer, Valérie Lanneau, Halima Lourghi, Bruno Donadille, Charlotte Rodwell, Sebastian Köhler, Dominik Seelow, Simon Jupp, Helen Parkinson, Tudor Groza, Michael Brudno, Peter N Robinson, Ana Rath
HIPBI-RD (Harmonising phenomics information for a better interoperability in the rare disease field) is a three-year project which started in 2016 funded via the E-Rare 3 ERA-NET program. This project builds on three resources largely adopted by the rare disease (RD) community: Orphanet, its ontology ORDO (the Orphanet Rare Disease Ontology), HPO (the Human Phenotype Ontology) as well as PhenoTips software for the capture and sharing of structured phenotypic data for RD patients. Our project is further supported by resources developed by the European Bioinformatics Institute and the Garvan Institute...
February 6, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29370821/phenodis-a-comprehensive-database-for-phenotypic-characterization-of-rare-cardiac-diseases
#6
Angela Adler, Pia Kirchmeier, Julian Reinhard, Barbara Brauner, Irmtraud Dunger, Gisela Fobo, Goar Frishman, Corinna Montrone, H-Werner Mewes, Matthias Arnold, Andreas Ruepp
BACKGROUND: Thoroughly annotated data resources are a key requirement in phenotype dependent analysis and diagnosis of diseases in the area of precision medicine. Recent work has shown that curation and systematic annotation of human phenome data can significantly improve the quality and selectivity for the interpretation of inherited diseases. We have therefore developed PhenoDis, a comprehensive, manually annotated database providing symptomatic, genetic and imprinting information about rare cardiac diseases...
January 25, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29237557/erepo-orp-exploring-the-opportunity-space-to-combat-orphan-diseases-with-existing-drugs
#7
Michal Brylinski, Misagh Naderi, Rajiv Gandhi Govindaraj, Jeffrey Lemoine
About 7000 rare, or orphan, diseases affect more than 350 million people worldwide. Although these conditions collectively pose significant health care problems, drug companies seldom develop drugs for orphan diseases due to extremely limited individual markets. Consequently, developing new treatments for often life-threatening orphan diseases is primarily contingent on financial incentives from governments, special research grants, and private philanthropy. Computer-aided drug repositioning is a cheaper and faster alternative to traditional drug discovery offering a promising venue for orphan drug research...
December 10, 2017: Journal of Molecular Biology
https://www.readbyqxmd.com/read/29212508/health-related-quality-of-life-among-adults-with-diverse-rare-disorders
#8
Kathleen R Bogart, Veronica L Irvin
BACKGROUND: Twenty-five to 30 million Americans live with a rare disease (RD) and share challenges unique to RD. The majority of research on RDs has focused on etiology, treatment and care, while the limited health-related quality of life (HRQL) research has been restricted to single RDs, small samples, or non-validated measures. This study reports HRQL among adults with diverse RDs, and compares their scores to those of the U.S. population and people with common chronic health conditions...
December 7, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29193559/evaluation-of-exome-filtering-techniques-for-the-analysis-of-clinically-relevant-genes
#9
Kristin D Kernohan, Taila Hartley, Najmeh Alirezaie, Peter N Robinson, David A Dyment, Kym M Boycott
A significant challenge facing clinical translation of exome sequencing is meaningful and efficient variant interpretation. Each exome contains ∼500 rare coding variants; laboratories must systematically and efficiently identify which variant(s) contribute to the patient's phenotype. In silico filtering is an approach that reduces analysis time while decreasing the chances of incidental findings. We retrospectively assessed 55 solved exomes using available datasets as in silico filters: Online Mendelian Inheritance in Man (OMIM), Orphanet, Human Phenotype Ontology (HPO), and Radboudumc University Medical Center curated panels...
February 2018: Human Mutation
https://www.readbyqxmd.com/read/29106618/eram-encyclopedia-of-rare-disease-annotations-for-precision-medicine
#10
Jinmeng Jia, Zhongxin An, Yue Ming, Yongli Guo, Wei Li, Yunxiang Liang, Dongming Guo, Xin Li, Jun Tai, Geng Chen, Yaqiong Jin, Zhimei Liu, Xin Ni, Tieliu Shi
Rare diseases affect over a hundred million people worldwide, most of these patients are not accurately diagnosed and effectively treated. The limited knowledge of rare diseases forms the biggest obstacle for improving their treatment. Detailed clinical phenotyping is considered as a keystone of deciphering genes and realizing the precision medicine for rare diseases. Here, we preset a standardized system for various types of rare diseases, called encyclopedia of Rare disease Annotations for Precision Medicine (eRAM)...
January 4, 2018: Nucleic Acids Research
https://www.readbyqxmd.com/read/28969131/histomorphologic-spectrum-in-hyaline-vascular-variant-of-castleman-disease
#11
Chaithra Gowthuvalli Venkataramana, Hema Kini, Debarshi Saha, Sharada Rai, Deepa Sowkur Anandarama Adiga, Ranjitha Rao, Cheryl Sarah Philipose
INTRODUCTION: Castleman Disease (CD) is a rare lymphopro-liferative disorder with heterogenous clinical and pathological features. It is a rare disease with mention in the rare disease data of the orphanet. It can present as unicentric or multicentric disease. Hyaline vascular variant and plasma cell variant are the two pathological subtypes. Hyaline vascular variant accounts for nearly 80% to 90% of unicentric cases. Hyaline vascular subtype variant has follicular and stroma rich subtype...
August 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28870259/rdfio-extending-semantic-mediawiki-for-interoperable-biomedical-data-management
#12
Samuel Lampa, Egon Willighagen, Pekka Kohonen, Ali King, Denny Vrandečić, Roland Grafström, Ola Spjuth
BACKGROUND: Biological sciences are characterised not only by an increasing amount but also the extreme complexity of its data. This stresses the need for efficient ways of integrating these data in a coherent description of biological systems. In many cases, biological data needs organization before integration. This is not seldom a collaborative effort, and it is thus important that tools for data integration support a collaborative way of working. Wiki systems with support for structured semantic data authoring, such as Semantic MediaWiki, provide a powerful solution for collaborative editing of data combined with machine-readability, so that data can be handled in an automated fashion in any downstream analyses...
September 4, 2017: Journal of Biomedical Semantics
https://www.readbyqxmd.com/read/28526043/management-of-rare-diseases-of-the-head-neck-and-teeth-results-of-a-french-population-based-prospective-8-year-study
#13
Lisa Friedlander, Rémy Choquet, Eva Galliani, Myriam de Chalendar, Claude Messiaen, Amélie Ruel, Marie-Paule Vazquez, Ariane Berdal, Corinne Alberti, Muriel De La Dure Molla
BACKGROUND: In the last ten years, national rare disease networks have been established in France, including national centres of expertise and regional ones, with storage of patient data in a bioinformatics tool. The aim was to contribute to the development and evaluation of health strategies to improve the management of patients with rare diseases. The objective of this study has been to provide the first national-level data concerning rare diseases of the head, neck and teeth and to assess the balance between demand and supply of care in France...
May 19, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28481671/review-of-u-s-registries-for-psoriasis
#14
Mina Amin, Daniel J No, Jashin J Wu
BACKGROUND: Patient registries are databases comprised of standardized clinical data for a specific population of patients with a particular disease or medical condition. Information from patient registries allows clinicians to assess long-lasting outcomes in patients with a specific disease, such as psoriasis. OBJECTIVE: Our primary objective was to identify available psoriasis registries in the United States (U.S.) and evaluate the application of patient registries compared to clinical trials...
December 2017: Journal of Dermatological Treatment
https://www.readbyqxmd.com/read/28364276/-computer-assisted-diagnosis-of-rare-diseases
#15
T Müller, A Jerrentrup, J R Schäfer
To establish a comprehensive diagnosis is by far the most challenging task in a physician's daily routine. Especially rare diseases place high demands on differential diagnosis, caused by the high number of around 8000 diseases and their clinical variability. No clinician can be aware of all the different entities and memorizing them all is impossible and inefficient. Specific diagnostic decision-supported systems provide better results than standard search engines in this context. The systems FindZebra, Phenomizer, Orphanet, and Isabel are presented here concisely with their advantages and limitations...
March 31, 2017: Der Internist
https://www.readbyqxmd.com/read/28361678/dignifi-discovering-causative-genes-for-orphan-diseases-using-protein-protein-interaction-networks
#16
Xiaoxia Liu, Zhihao Yang, Hongfei Lin, Michael Simmons, Zhiyong Lu
BACKGROUND: An orphan disease is any disease that affects a small percentage of the population. Orphan diseases are a great burden to patients and society, and most of them are genetic in origin. Unfortunately, our current understanding of the genes responsible for inherited orphan diseases is still quite limited. Developing effective computational algorithms to discover disease-causing genes would help unveil disease mechanisms and may enable better diagnosis and treatment. RESULTS: We have developed a novel method, named as DIGNiFI (Disease causIng GeNe FInder), which uses Protein-Protein Interaction (PPI) network-based features to discover and rank candidate disease-causing genes...
March 14, 2017: BMC Systems Biology
https://www.readbyqxmd.com/read/28238524/development-of-a-database-to-record-orofacial-manifestations-in-patients-with-rare-diseases-a-status-report-from-the-romse-recording-of-orofacial-manifestations-in-people-with-rare-diseases-database
#17
M Hanisch, L Hanisch, K Benz, J Kleinheinz, J Jackowski
The aim of this working group was to establish a ROMSE (recording of orofacial manifestations in people with rare diseases) database to provide clinicians, patients, and their families with better information about these diseases. In 2011, we began to search the databases Orphanet, OMIM(®) (Online Mendelian Inheritance in Man(®)), and PubMed, for rare diseases with orofacial symptoms, and since 2013, the collected information has been incorporated into a web-based, freely accessible database. To date, 471 rare diseases with orofacial signs have been listed on ROMSE, and 10 main categories with 99 subcategories of signs such as different types of dental anomalies, changes in the oral mucosa, dysgnathia, and orofacial clefts, have been defined...
February 23, 2017: British Journal of Oral & Maxillofacial Surgery
https://www.readbyqxmd.com/read/28099516/clinical-practice-guidelines-for-rare-diseases-the-orphanet-database
#18
Sonia Pavan, Kathrin Rommel, María Elena Mateo Marquina, Sophie Höhn, Valérie Lanneau, Ana Rath
Clinical practice guidelines (CPGs) for rare diseases (RDs) are scarce, may be difficult to identify through Internet searches and may vary in quality depending on the source and methodology used. In order to contribute to the improvement of the diagnosis, treatment and care of patients, Orphanet (www.orpha.net) has set up a procedure for the selection, quality evaluation and dissemination of CPGs, with the aim to provide easy access to relevant, accurate and specific recommendations for the management of RDs...
2017: PloS One
https://www.readbyqxmd.com/read/28095876/multi-criteria-decision-analysis-mcda-testing-a-proposed-mcda-framework-for-orphan-drugs
#19
C Schey, P F M Krabbe, M J Postma, M P Connolly
BACKGROUND: Since the introduction of the orphan drugs legislation in Europe, it has been suggested that the general method of assessing drugs for reimbursement is not necessarily suitable for orphan drugs. The National Institute for Health and Clinical Excellence indicated that several criteria other than cost and efficacy could be considered in reimbursement decisions for orphan drugs. This study sought to explore the multi-criteria decision analysis (MCDA) framework proposed by (Orphanet J Rare Dis 7:74, 2012) to a range of orphan drugs, with a view to comparing the aggregate scores to the average annual cost per patient for each product, and thus establishing the merit of MCDA as a tool for assessing the value of orphan drugs in relation to their pricings...
January 17, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28087401/how-the-eucerd-joint-action-supported-initiatives-on-rare-diseases
#20
REVIEW
Stephen Lynn, Victoria Hedley, Antonio Atalaia, Teresinha Evangelista, Kate Bushby
Joint Actions are successful initiatives from the European Commission (EC) that have helped to raise awareness and to bring significant benefit to those suffering from a rare disease (RD). In this paper, we will focus on the activities developed by the EUCERD Joint Action (EJA) and by the Orphanet Joint Action ("Orphanet Europe"). EUCERD Joint Action was co-funded by the EC and the Member States between 2012 and 2015 to help to define the activities and policies in the field of RD and foster exchange of experiences amongst Member States...
March 2017: European Journal of Medical Genetics
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