ArticleTranslational science of rare diseases2017
Marking 15 years of the Genetic and Rare Diseases Information Center.
Article in Translational science of rare diseases, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Online education for rare genetic diseases: a systematic review.Orphanet journal of rare diseases · 2025Pooled it
- Exploring skeletal disorders in cattle and sheep: a WGS-based framework for diagnosis and classification.Genetics, selection, evolution : GSE · 2025Article
- Reversal gene expression assessment for drug repurposing, a case study of glioblastoma.Journal of translational medicine · 2025Article
- Reversal Gene Expression Assessment for Drug Repurposing, a Case Study of Glioblastoma.Research square · 2024Article
- The DO-KB Knowledgebase: a 20-year journey developing the disease open science ecosystem.Nucleic acids research · 2024Article
- AutoCore: A network-based definition of the core module of human autoimmunity and autoinflammation.Science advances · 2023Article
- An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.Nature communications · 2022Article
- A clinician's guide to omics resources in dermatology.Clinical and experimental dermatology · 2022Review
- Rare disease patient matchmaking: development and outcomes of an internet case-finding strategy in the Undiagnosed Diseases Network.Orphanet journal of rare diseases · 2021Article
- Participation in patient support forums may put rare disease patient data at risk of re-identification.Orphanet journal of rare diseases · 2020Article
- Article
- Optimizing genetics online resources for diverse readers.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Rare Opportunities: CRISPR/Cas-Based Therapy Development for Rare Genetic Diseases.Molecular diagnosis & therapy · 2019Review
- Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.Nucleic acids research · 2019Article
- Human Disease Ontology 2018 update: classification, content and workflow expansion.Nucleic acids research · 2019Article
- HuVarBase: A human variant database with comprehensive information at gene and protein levels.PloS one · 2019Article
- From scientific discovery to treatments for rare diseases - the view from the National Center for Advancing Translational Sciences - Office of Rare Diseases Research.Orphanet journal of rare diseases · 2018Review
- A compilation of national plans, policies and government actions for rare diseases in 23 countries.Intractable & rare diseases research · 2018Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe Genetic and Rare Diseases Information Center (GARD), a program of the National Center for Advancing Translational Sciences, was established in 2002 to assist the public in finding reliable, timely, and easy-to-understand information about genetic and/or rare diseases in English or Spanish.
objectiveA review of longitudinal data on GARD inquiries from 2002 to 2016 and assessment of the results of two user satisfaction surveys were conducted to understand the demographics and needs of GARD customers over time.
methodsSince 2002, GARD has collected anonymized data while responding to questions received via e-mail, website, telephone, fax, letter, or TTY. Between 2002 and 2016 GARD received a total of 60,106 inquiries. User satisfaction surveys were conducted in 2006 and 2014, in which users self-selected to participate.
resultsThe annual number of inquiries has risen steadily since 2002. Inquiries are overwhelmingly from educated female patients, family, and friends seeking disease-specific information, treatment options, referrals, and research studies. Most users report satisfaction with the experience.
conclusionsRare disease patients and their families face challenges in finding information about their symptoms or diagnosis, prognosis, treatment options, significance for family members, and research opportunities. Lack of available clinical expertise can leave patients, their family, and friends with little choice but to become knowledgeable on their own. GARD fills a critical need by providing the public with vetted, evidence-based information that empowers people to engage in their own health care and seek research studies of relevance.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.