Results 41 to 50 of about 11,812,623 (407)
Orphanet Journal of Rare Diseases, 2021 Rare diseases (RD) are a diverse collection of more than 7–10,000 different disorders, most of which affect a small number of people per disease. Because of their rarity and fragmentation of patients across thousands of different disorders, the medical ...
A. Tisdale +14 more
semanticscholar +1 more source
Generating health technology assessment evidence for rare diseases [PDF]
, 2014 Objectives: Rare diseases are often heterogeneous in their progression and response to treatment, with only a small population for study. This provides challenges for evidence generation to support HTA, so novel research methods are required.
Facey, Karen +6 more
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Alzheimer’s Research & Therapy, 2022 Background Gangliosides are highly enriched in the brain and are critical for its normal development and function. However, in some rare neurometabolic diseases, a deficiency in lysosomal ganglioside hydrolysis is pathogenic and leads to early-onset ...
James C. Dodge +7 more
doaj +1 more source
Opportunities and Challenges for Machine Learning in Rare Diseases
Frontiers in Medicine, 2021 Rare diseases (RDs) are complicated health conditions that are difficult to be managed at several levels. The scarcity of available data chiefly determines an intricate scenario even for experts and specialized clinicians, which in turn leads to the so ...
S. Decherchi +4 more
semanticscholar +1 more source
Population Genetics of Rare Variants and Complex Diseases [PDF]
, 2012 Identifying drivers of complex traits from the noisy signals of genetic variation obtained from high throughput genome sequencing technologies is a central challenge faced by human geneticists today.
Hernandez, Ryan D. +3 more
core +2 more sources
罕见病研究, 2022 Hemophilia is a group of hereditary hemorrhagic diseases. Hemorrhages mostly occur in musculoskeletal system and is the main cause for disability. Rehabilitation plays an important role in the comprehensive management in hemophilia.
Hemophilia Treatment Center Collaborative Network of China +1 more
doaj +1 more source
Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database
European Journal of Human Genetics, 2019 Rare diseases, an emerging global public health priority, require an evidence-based estimate of the global point prevalence to inform public policy.
Stéphanie Nguengang Wakap +8 more
semanticscholar +1 more source
Therapeutic Targeting of the Complement System: From Rare Diseases to Pandemics
Pharmacological Reviews, 2021 The complement system was discovered at the end of the 19th century as a heat-labile plasma component that “complemented” the antibodies in killing microbes, hence the name “complement.” Complement is also part of the innate immune system, protecting the
P. Garred, A. Tenner, T. Mollnes
semanticscholar +1 more source
Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registry
Orphanet Journal of Rare Diseases, 2020 Background Hereditary hemorrhagic telangiectasia (HHT) is a rare vascular disease with autosomal dominant inheritance. Disease-causing variants in endoglin (ENG) and activin A receptor type II-like 1 (ACVRL1) genes are detected in more than 90% of cases ...
Rosario Sánchez-Martínez +12 more
doaj +1 more source
Genome Medicine, 2023 Background The American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) guidelines recommend using variant enrichment among cases as "strong" evidence for pathogenicity per the PS4 criterion.
Sihan Liu +13 more
doaj +1 more source