An Information Center for Rare Diseases: A Tool for Epidemiologic and Clinical Studies in Rare Diseases

1997 ◽  
pp. 207-210 ◽  
Author(s):  
E. Daina ◽  
B. Vasile ◽  
F. Fiacco ◽  
L. Minetti ◽  
A. Schieppati
Keyword(s):  
Rare Diseases ◽  
Clinical Studies ◽  
Information Center ◽  
Center For Rare Diseases

scholarly journals Potentials and current shortcomings in the cooperation between German centers for rare diseases and primary care physicians: results from the project TRANSLATE-NAMSE

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
D. Druschke ◽  
F. Krause ◽  
G. Müller ◽  
J. Scharfe ◽  
G. F. Hoffmann ◽  
...  
Keyword(s):  
Primary Care ◽  
Rare Disease ◽  
Rare Diseases ◽  
Primary Care Physicians ◽  
Postal Survey ◽  
National Plan ◽  
Major Step ◽  
Interface Management ◽  
Telephone Interviews ◽  
Center For Rare Diseases

Abstract Background The TRANSLATE-NAMSE project with the strengthening of the centers for rare diseases with their affiliation to the European Reference Networks was a major step towards the implementation of the German National Plan of Action for People with Rare Diseases establishing better care structures. As primary care physicians, general practitioners and pediatricians play a central role in the diagnosis of patients with rare disease, as it is usually them referring to specialists and rare disease centers. Therefore, the interface management between primary care physicians and the centers for rare diseases is of particular importance. Methods In a mixed-method-approach an anonymous postal survey of 1,500 randomly selected primary care physicians in Germany was conducted with focus on (1) knowledge about a center for rare diseases and how it works, (2) in case of cooperation, satisfaction with the services provided by centers, and (3) expectations and needs they have with regard to the centers. In addition, in-depth telephone interviews were conducted with physicians who had already referred patients to a center. Results In total, 248 physicians responded to the survey, and 15 primary care physicians were interviewed. We observed a wide lack of knowledge about the existence of (45.6% confirmed to know at least one center) about how to access rare disease centers (50.4% of those who know a center confirmed knowledge) and what the center specializes in. In case of cooperation the evaluation was mostly positive. Conclusion To improve medical care, the interplay between primary care physicians and rare disease centers needs to be strengthened. (1) To improve the communication, the objectives and functioning of the rare disease centers should become more visible. (2) Other projects dealing with the analysis and improvement of interface management between centers and primary care physicians, as described in the National Plan of Action for People with Rare Diseases, need to be implemented immediately. (3) If the project is evaluated positively, the structures of TRANSLATE-NAMSE should be introduced nationwide into the German health care system to ensure comprehensive, quality-assured care for people with rare diseases with special consideration of the key role of primary care physicians—also taking into account the financial expenditures of this new care model.

scholarly journals The Value of Case Reports in Systematic Reviews from Rare Diseases. The Example of Enzyme Replacement Therapy (ERT) in Patients with Mucopolysaccharidosis Type II (MPS-II)

2020 ◽  
Vol 17 (18) ◽  
pp. 6590
Author(s):  
Miguel Sampayo-Cordero ◽  
Bernat Miguel-Huguet ◽  
Andrea Malfettone ◽  
José Manuel Pérez-García ◽  
Antonio Llombart-Cussac ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Systematic Reviews ◽  
Rare Diseases ◽  
Clinical Studies ◽  
Case Reports ◽  
Mucopolysaccharidosis Type ◽  
Type Ii ◽  
Mucopolysaccharidosis Type Ii ◽  
Enzyme Replacement ◽  
Mps Ii

Background: Case reports are usually excluded from systematic reviews. Patients with rare diseases are more dependent on novel individualized strategies than patients with common diseases. We reviewed and summarized the novelties reported by case reports in mucopolysaccharidosis type II (MPS-II) patients treated with enzyme replacement therapy (ERT). Methods: We selected the case reports included in a previous meta-analysis of patients with MPS-II treated with ERT. Later clinical studies evaluating the same topic of those case reports were reported. Our primary aim was to summarize novelties reported in previous case reports. Secondary objectives analyzed the number of novelties evaluated in subsequent clinical studies and the time elapsed between the publication of the case report to the publication of the clinical study. Results: We identified 11 innovative proposals in case reports that had not been previously considered in clinical studies. Only two (18.2%) were analyzed in subsequent nonrandomized cohort studies. The other nine novelties (81.8%) were analyzed in later case reports (five) or were not included in ulterior studies (four) after more than five years from their first publication. Conclusions: Case reports should be included in systematic reviews of rare disease to obtain a comprehensive summary of the state of research and offer valuable information for healthcare practitioners.

scholarly journals Marking 15 years of the Genetic and Rare Diseases Information Center

2017 ◽  
Vol 2 (1-2) ◽  
pp. 77-88 ◽  
Author(s):  
Janine Lewis ◽  
Michelle Snyder ◽  
Henrietta Hyatt-Knorr
Keyword(s):  
Rare Diseases ◽  
Information Center

scholarly journals Scaling accurate genetic variant discovery to tens of thousands of samples

2017 ◽  
Author(s):  
Ryan Poplin ◽  
Valentin Ruano-Rubio ◽  
Mark A. DePristo ◽  
Tim J. Fennell ◽  
Mauricio O. Carneiro ◽  
...  
Keyword(s):  
Population Genetics ◽  
Genetic Variation ◽  
Rare Diseases ◽  
Clinical Studies ◽  
Genetic Variant ◽  
Disease Gene ◽  
Variant Calling ◽  
Variant Discovery ◽  
Disease Gene Discovery ◽  
Exome Aggregation Consortium

AbstractComprehensive disease gene discovery in both common and rare diseases will require the efficient and accurate detection of all classes of genetic variation across tens to hundreds of thousands of human samples. We describe here a novel assembly-based approach to variant calling, the GATK HaplotypeCaller (HC) and Reference Confidence Model (RCM), that determines genotype likelihoods independently per-sample but performs joint calling across all samples within a project simultaneously. We show by calling over 90,000 samples from the Exome Aggregation Consortium (ExAC) that, in contrast to other algorithms, the HC-RCM scales efficiently to very large sample sizes without loss in accuracy; and that the accuracy of indel variant calling is superior in comparison to other algorithms. More importantly, the HC-RCM produces a fully squared-off matrix of genotypes across all samples at every genomic position being investigated. The HC-RCM is a novel, scalable, assembly-based algorithm with abundant applications for population genetics and clinical studies.

scholarly journals An integrative knowledge graph for rare diseases, derived from the Genetic and Rare Diseases Information Center (GARD)

2020 ◽  
Vol 11 (1) ◽  
Author(s):  
Qian Zhu ◽  
Dac-Trung Nguyen ◽  
Ivan Grishagin ◽  
Noel Southall ◽  
Eric Sid ◽  
...  
Keyword(s):  
Health Information ◽  
Rare Diseases ◽  
Consumer Health Information ◽  
Scientific Understanding ◽  
Knowledge Graph ◽  
Biomedical Data ◽  
Translational Science ◽  
Consumer Health ◽  
Disease Characteristics ◽  
Information Center

Abstract Background The Genetic and Rare Diseases (GARD) Information Center was established by the National Institutes of Health (NIH) to provide freely accessible consumer health information on over 6500 genetic and rare diseases. As the cumulative scientific understanding and underlying evidence for these diseases have expanded over time, existing practices to generate knowledge from these publications and resources have not been able to keep pace. Through determining the applicability of computational approaches to enhance or replace manual curation tasks, we aim to both improve the sustainability and relevance of consumer health information, but also to develop a foundational database, from which translational science researchers may start to unravel disease characteristics that are vital to the research process. Results We developed a meta-ontology based integrative knowledge graph for rare diseases in Neo4j. This integrative knowledge graph includes a total of 3,819,623 nodes and 84,223,681 relations from 34 different biomedical data resources, including curated drug and rare disease associations. Semi-automatic mappings were generated for 2154 unique FDA orphan designations to 776 unique GARD diseases, and 3322 unique FDA designated drugs to UNII, as well as 180,363 associations between drug and indication from Inxight Drugs, which were integrated into the knowledge graph. We conducted four case studies to demonstrate the capabilities of this integrative knowledge graph in accelerating the curation of scientific understanding on rare diseases through the generation of disease mappings/profiles and pathogenesis associations. Conclusions By integrating well-established database resources, we developed an integrative knowledge graph containing a large volume of biomedical and research data. Demonstration of several immediate use cases and limitations of this process reveal both the potential feasibility and barriers of utilizing graph-based resources and approaches to support their use by providers of consumer health information, such as GARD, that may struggle with the needs of maintaining knowledge reliant on an evolving and growing evidence-base. Finally, the successful integration of these datasets into a freely accessible knowledge graph highlights an opportunity to take a translational science view on the field of rare diseases by enabling researchers to identify disease characteristics, which may play a role in the translation of discover across different research domains.

scholarly journals Agreement between results of meta-analyses from case reports and clinical studies, regarding efficacy and safety of idursulfase therapy in patients with mucopolysaccharidosis type II (MPS-II). A new tool for evidence-based medicine in rare diseases

2019 ◽  
Vol 14 (1) ◽  
Author(s):  
Miguel Sampayo-Cordero ◽  
Bernat Miguel-Huguet ◽  
Almudena Pardo-Mateos ◽  
Andrea Malfettone ◽  
José Pérez-García ◽  
...  
Keyword(s):  
Rare Diseases ◽  
Clinical Studies ◽  
Case Reports ◽  
Meta Analysis ◽  
Type I ◽  
Mucopolysaccharidosis Type ◽  
Type Ii ◽  
Mucopolysaccharidosis Type Ii ◽  
Mps Ii ◽  
Meta Analyses

Abstract Background A preliminary exploratory study shows solid agreement between the results of case reports and clinical study meta-analyses in mucopolysaccharidosis Type I (MPS-I) adult patients. The aim of the present study is to confirm previous results in another patient population, suffering from mucopolysaccharidosis Type II (MPS-II). Methods A systematic review and meta-analysis of case reports published by April 2018 was conducted for MPS-II patients treated with enzyme replacement therapy (ERT). The study is reported in accordance with PRISMA and MOOSE guidelines (PROSPERO database code CRD42018093408). The assessed population and outcomes were the same as previously analyzed in a meta-analysis of MPS-II clinical studies. The primary endpoint was the percent of clinical cases showing improvement in efficacy outcome, or no harm in safety outcome after ERT initiation. A restrictive procedure to aggregate case reports, by selecting standardized and well-defined outcomes, was proposed. Different sensitivity analyses were able to evaluate the robustness of results. Results Every outcome classified as “acceptable evidence group” in our case report meta-analysis had been graded as “moderate strength of evidence” in the aforementioned meta-analysis of clinical studies. Sensitivity, specificity, and positive-negative predictive values for results of both meta-analyses reached 100%, and were deemed equivalent. Conclusions Aggregating case reports quantitatively, rather than analyzing them qualitatively, may improve conclusions in rare diseases and personalized medicine. Additionally, we propose some methods to evaluate publication bias and heterogeneity of the included studies in a meta-analysis of case reports.

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