Results 11 to 20 of about 11,580,920 (364)
100,000 genomes pilot on rare-disease diagnosis in health care preliminary report
Yearbook of Paediatric Endocrinology, 2022 METHODS We conducted a pilot study involving 4660 participants from 2183 families, among whom 161 disorders covering a broad spectrum of rare diseases were present.
The Genomes-Project-Pilot-Investigators
semanticscholar +1 more source
Clinical Practice Guideline for Adolescent & Adult Patients with Spinal Muscular Atrophy
罕见病研究, 2023 In recent years, spinal muscular atrophy (SMA) has made progress in multidisciplinary treatment and disease-modifying therapeutic drugs, so that the progress has significantly improved the survival and quality of life of the patients.
Rare Disease Society of Chinese Research Hospital Association +3 more
doaj +5 more sources
Rare disease emerging as a global public health priority
Frontiers in Public Health, 2022 The genomics revolution over the past three decades has led to great strides in rare disease (RD) research, which presents a major shift in global policy landscape. While RDs are individually rare, there are common challenges and unmet medical and social
C. Y. Chung, A. Chu, B. Chung
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Rare disease education in Europe and beyond: time to act
Orphanet Journal of Rare Diseases, 2022 People living with rare diseases (PLWRD) still face huge unmet needs, in part due to the fact that care systems are not sufficiently aligned with their needs and healthcare workforce (HWF) along their care pathways lacks competencies to efficiently ...
Birutė Tumienė +13 more
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The 100,000 Genomes Pilot on Rare Disease Diagnosis in Healthcare − A Preliminary Report
New England Journal of Medicine, 2021 Background The UK 100,000 Genomes Project is in the process of investigating the role of genome sequencing of patients with undiagnosed rare disease following usual care, and the alignment of research with healthcare implementation in the UK’s national ...
D. Smedley +194 more
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Research and Practice in Thrombosis and Haemostasis, 2022 Background Patients with hemophilia have deficiencies in intrinsic coagulation factors and can develop inhibitors that limit the effectiveness of replacement coagulation factors.
Debra D. Pittman +5 more
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Journal of Investigative Medicine High Impact Case Reports, 2016 Erdheim-Chester disease (ECD) is a rare, xanthogranulomatous, non-Langerhans cell histiocytosis with frequent systemic involvement. Although the diagnosis is based on characteristic histological and radiological findings, its identification can be challenging because of its heterogeneous presentation.
Javier Arias-Stella +2 more
openaire +3 more sources
Deep Learning for Rare Disease: A Scoping Review
medRxiv, 2022 Although individually rare, collectively more than 7,000 rare diseases affect about 10% of patients. Each of the rare diseases impacts the quality of life for patients and their families, and incurs significant societal costs.
Junghwan Lee +7 more
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BMC Health Services Research, 2022 Background Rare disease patients and carers report significant impacts on mental health but studies on UK populations have focussed on relatively few, specific conditions.
Rosa Spencer-Tansley +4 more
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Lipedema, a Rare Disease [PDF]
Annals of Rehabilitation Medicine, 2011 Lipedema is a chronic disease of lipid metabolism that results in the symmetrical impairment of fatty tissue distribution and storage combined with the hyperplasia of individual fat cells. Lipedema occurs almost exclusively in women and is usually associated with a family history and characteristic features.
Bae Wook Shin +3 more
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