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Phenotypically Similar Rare Disease Identification from an Integrative Knowledge Graph for Data Harmonization: Preliminary Study

Improved understanding and recognition of rare diseases are key for accurate and timely diagnosis, and this relies on broad dissemination of and access to knowledge about rare diseases [4].

Qian Zhu, Dac-Trung Nguyen, Gioconda Alyea, Karen Hanson, Eric Sid, Anne Pariser

JMIR Med Inform 2020;8(10):e18395

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A European Network of Email and Telephone Help Lines Providing Information and Support on Rare Diseases: Results From a 1-Month Activity Survey

The European Commission adopted a Communication and the Council a Recommendation on rare diseases, setting out an overall community strategy to support Member States in diagnosing, treating, and caring for citizens with rare diseases [1,4].

Francois Houyez, Rosa Sanchez de Vega, Tuy Nga Brignol, Monica Mazzucato, Agata Polizzi

Interact J Med Res 2014;3(2):e9

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Rare Diseases on the Internet: An Assessment of the Quality of Online Information

The definitions of rare diseases vary from 12:100,000 in Australia to 75:100,000 in the United States [15].

Frédéric Pauer, Svenja Litzkendorf, Jens Göbel, Holger Storf, Jan Zeidler, Johann-Matthias Graf von der Schulenburg

J Med Internet Res 2017;19(1):e23

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Adopting Quality Criteria for Websites Providing Medical Information About Rare Diseases

IntroductionThe European Union considers diseases to be rare when they affect no more than 5 in 10,000 people.

Frédéric Pauer, Jens Göbel, Holger Storf, Svenja Litzkendorf, Ana Babac, Martin Frank, Verena Lührs, Franziska Schauer, Jörg Schmidtke, Lisa Biehl, Thomas OF Wagner, Frank Ückert, Johann-Matthias Graf von der Schulenburg, Tobias Hartz

Interact J Med Res 2016;5(3):e24

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Standardization of Questions in Rare Disease Registries: The PRISM Library Project

This paper introduces the [Rare Disease] PRISM (Patient Registry Item Specifications and Metadata for Rare Disease) project, a library of standardized questions covering a broad spectrum of rare diseases that can be used to support the development of new registries

Rachel Lynn Richesson, Denise Shereff, James Everett Andrews

Interact J Med Res 2012;1(2):e10

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Conceptualization and Implementation of the Central Information Portal on Rare Diseases: Protocol for a Qualitative Study

IntroductionFinding Reliable Information on Rare Diseases as a Major ChallengeIn Germany, an estimated 4 million people live with rare diseases [1].

Svenja Litzkendorf, Tobias Hartz, Jens Göbel, Holger Storf, Frédéric Pauer, Ana Babac, Verena Lührs, Leena Bruckner-Tuderman, Franziska Schauer, Jörg Schmidtke, Lisa Biehl, TOF Wagner, J-Matthias Graf von der Schulenburg, Martin Frank

JMIR Res Protoc 2018;7(5):e112

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Leveraging Social Networking Sites for an Autoimmune Hepatitis Genetic Repository: Pilot Study to Evaluate Feasibility

In the United States, rare diseases are defined as affecting fewer than 200,000 people at a given time.

Megan Comerford, Rachel Fogel, James Robert Bailey, Prianka Chilukuri, Naga Chalasani, Craig Steven Lammert

J Med Internet Res 2018;20(1):e14

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Facebook Support Groups for Rare Pediatric Diseases: Quantitative Analysis

Since rare diseases have per definition a very low prevalence (European definition of rare diseases: <1 per 2000) [2], affected individuals are often geographically dispersed.

Sarah Catrin Titgemeyer, Christian Patrick Schaaf

JMIR Pediatr Parent 2020;3(2):e21694

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Utilization of Electronic Medical Records and Biomedical Literature to Support the Diagnosis of Rare Diseases Using Data Fusion and Collaborative Filtering Approaches

disease patients to stratify patients into subgroups and accelerate the diagnosis of rare diseases.

Feichen Shen, Sijia Liu, Yanshan Wang, Andrew Wen, Liwei Wang, Hongfang Liu

JMIR Med Inform 2018;6(4):e11301

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Using the Internet to Seek Information About Genetic and Rare Diseases: A Case Study Comparing Data From 2006 and 2011

Rare diseases are defined as those with a prevalence of fewer than 200,000 affected individuals in the United States (approximately 1 in 1500 people) [10-15].

Tamandra Morgan, Johanna Schmidt, Christy Haakonsen, Janine Lewis, Maria Della Rocca, Stephanie Morrison, Barbara Biesecker, Kimberly A. Kaphingst

JMIR Res Protoc 2014;3(1):e10

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