The Genetic and Rare Diseases Information Center (GARD) is a database dedicated to aiding anyone who may be seeking assistance and knowledge regarding rare diseases. This public health resource was put into motion by the Rare Diseases Act of 2002, and uses Translational Science to enhance research procedures. People can use this resource to find support, disease facts, ongoing research information, and available treatments. The GARD database is an excellent guide for anyone wanting to increase their knowledge of rare diseases and how to help those who have a rare disorder.
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| http://dx.doi.org/10.1080/02763869.2022.2131143 | DOI Listing |
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EN ISO 15189 revision: EFLM Committee Accreditation and ISO/CEN standards (C: A/ISO) analysis and general remarks on the changes.
Clin Chem Lab Med
January 2025
SKML, Nijmegen, The Netherlands.
The EN ISO 15189:2022 standard, titled "Medical laboratories - Requirements for quality and competence," is a significant update to the regulations for medical laboratories. The revised standard was published on December 6, 2022, replacing both EN ISO 15189:2012 and EN ISO 22870:2016. Key objectives of the revision include: 1.
View Article and Find Full Text PDFImproving Social Media-Based Support Groups for the Rare Disease Community: Interview Study With Patients and Parents of Children with Rare and Undiagnosed Diseases.
JMIR Hum Factors
December 2024
Center for Bioethics, Indiana University School of Medicine, Indianapolis, IN, United States.
Background: The rarity that is inherent in rare disease (RD) often means that patients and parents of children with RDs feel uniquely isolated and therefore are unprepared or unsupported in their care. To overcome this isolation, many within the RD community turn to the internet, and social media groups in particular, to gather useful information about their RDs. While previous research has shown that social media support groups are helpful for those affected by RDs, it is unclear what these groups are particularly useful or helpful for patients and parents of children with RDs.
View Article and Find Full Text PDFCreating an Innovation Engine to Advance Medicine for Patients with Rare Diseases.
Hum Gene Ther
January 2025
Managing Editor, Human Gene Therapy, Mary Ann Liebert, Inc., Publishers, New Rochelle, New York, USA.
Identification of immune suppressor candidates utilizing comparative transcriptional profiling in histiocytic sarcoma.
Cancer Immunol Immunother
January 2025
Department of Clinical Sciences and Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Histiocytic sarcoma (HS) is a rare yet lethal malignancy with no established standard of care therapies. A lack of pre-clinical models limits our understanding of HS pathogenesis and identification of therapeutic targets. Canine HS shares multiple clinical and genetic similarities with human HS, supporting its use as a unique translational model.
View Article and Find Full Text PDFDiagnosis and treatment of autonomic failure, pain and sleep disturbances in Parkinson's disease: guideline "Parkinson's disease" of the German Society of Neurology.
J Neurol
January 2025
Department of Neurology, LMU University Hospital, Ludwig-Maximilians-Universität (LMU) München, Munich, Germany.
Background And Objective: Non-motor symptoms frequently develop throughout the disease course of Parkinson's disease (PD), and pose affected individuals at risk of complications, more rapid disease progression and poorer quality of life. Addressing such symptom burden, the 2023 revised "Parkinson's disease" guideline of the German Society of Neurology aimed at providing evidence-based recommendations for managing PD non-motor symptoms, including autonomic failure, pain and sleep disturbances.
Methods: Key PICO (Patient, Intervention, Comparison, Outcome) questions were formulated by the steering committee and refined by the assigned authors.
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