Rare disease research powered by empowered patients: solving the zebra puzzle through social media.
Sign Up to like & getrecommendations! Published in 2023 at "Cancer"
DOI: 10.1002/cncr.34765
Abstract: PLAIN LANGUAGE SUMMARY Social media platforms like Facebook and Twitter have revolutionized rare disease research and have catalyzed the connection among patients with rare cancers. A new study from the Germ Cell Tumor Survivor Sisters… read more here.
Keywords: social media; rare disease; disease; disease research ... See more keywords
Caregiving concerns and clinical characteristics across neurodegenerative and cerebrovascular disorders in the Ontario neurodegenerative disease research initiative
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Geriatric Psychiatry"
DOI: 10.1002/gps.5727
Abstract: Caregiving burdens are a substantial concern in the clinical care of persons with neurodegenerative disorders. In the Ontario Neurodegenerative Disease Research Initiative, we used the Zarit's Burden Interview (ZBI) to examine: (1) the types of… read more here.
Keywords: ontario neurodegenerative; research initiative; disorders ontario; disease research ... See more keywords
ModelMatcher: A scientist‐centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24364
Abstract: Next‐generation sequencing is a prevalent diagnostic tool for undiagnosed diseases and has played a significant role in rare disease gene discovery. Although this technology resolves some cases, others are given a list of possibly damaging… read more here.
Keywords: undiagnosed disease; disease; rare undiagnosed; stakeholders rare ... See more keywords
An Overview of Flow Cytometry: Its Principles and Applications in Allergic Disease Research.
Sign Up to like & getrecommendations! Published in 2021 at "Methods in molecular biology"
DOI: 10.1007/978-1-0716-1001-5_13
Abstract: Flow cytometry is a popular technique used for both clinical and research purposes. It involves laser-based technology to characterize cells based on size, shape, and complexity. Additionally, flow cytometers are equipped with the ability to… read more here.
Keywords: disease research; cytometry; allergic disease; flow cytometry ... See more keywords
Chagas disease research and development: Is there light at the end of the tunnel?
Sign Up to like & getrecommendations! Published in 2017 at "Computational and Structural Biotechnology Journal"
DOI: 10.1016/j.csbj.2016.12.002
Abstract: Chagas disease, or American trypanosomiasis, is the result of infection by the parasite Trypanosoma cruzi. It is endemic in Latin America, and spreading around the globe due to human migration. Although it was first identified… read more here.
Keywords: disease research; research development; chagas; disease ... See more keywords
Agrochemical Lessons for Infectious Disease Research: New Resistance Breaking Antifungal Hits against Candida auris.
Sign Up to like & getrecommendations! Published in 2023 at "ACS medicinal chemistry letters"
DOI: 10.1021/acsmedchemlett.2c00497
Abstract: Analysis of the history of the invention of the block-buster antifungal drug Fluconazole underscores the importance of agrochemical research on drug discovery and development. The multidrug resistant fungal pathogen Candida auris is now responsible for… read more here.
Keywords: candida auris; lessons infectious; agrochemical lessons; disease research ... See more keywords
Assessment of Current Practices Across Alzheimer's Disease Research Centers Biorepositories.
Sign Up to like & getrecommendations! Published in 2022 at "Biopreservation and biobanking"
DOI: 10.1089/bio.2022.0022
Abstract: In 1984, the National Institute on Aging developed the Alzheimer's disease centers program. The main goal of these centers is to advance the understanding of Alzheimer's disease and related dementias (ADRD) through comprehensive patient evaluations… read more here.
Keywords: current practices; disease; alzheimer disease; disease research ... See more keywords
Rare Disease Research Resources at the Rat Genome Database.
Sign Up to like & getrecommendations! Published in 2023 at "Genetics"
DOI: 10.1093/genetics/iyad078
Abstract: Rare diseases individually affect relatively few people, but as a group they impact considerable numbers of people. The Rat Genome Database (RGD; https://rgd.mcw.edu) is a knowledgebase that offers resources for rare disease research. This includes… read more here.
Keywords: rare disease; genome database; disease research; research ... See more keywords
MO1038JOB BURNOUT IN RARE DISEASE RESEARCH PHYSICIANS DURING COVID-19 PANDEMIC
Sign Up to like & getrecommendations! Published in 2021 at "Nephrology Dialysis Transplantation"
DOI: 10.1093/ndt/gfab109.005
Abstract: Abstract Background and Aims Doctors are exposed to high levels of stress in their profession and are particularly susceptible to experiencing burnout. Rare disease researches are enlightening, with more workload to clinicians, especially during the… read more here.
Keywords: disease research; job burnout; rare disease; job ... See more keywords
Deep Learning for Rare Disease: A Scoping Review
Sign Up to like & getrecommendations! Published in 2022 at "Journal of biomedical informatics"
DOI: 10.1101/2022.06.29.22277046
Abstract: 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. The… read more here.
Keywords: rare disease; disease research; deep learning;
Biological false‐positive venereal disease research laboratory test in cerebrospinal fluid in the diagnosis of neurosyphilis – a case‐control study
Sign Up to like & getrecommendations! Published in 2018 at "Journal of the European Academy of Dermatology and Venereology"
DOI: 10.1111/jdv.14681
Abstract: There is no clear consensus on the diagnosis of neurosyphilis. The Venereal Disease Research Laboratory (VDRL) test from cerebrospinal fluid (CSF) has traditionally been considered the gold standard for diagnosing neurosyphilis but is widely known… read more here.
Keywords: disease research; venereal disease; research laboratory; diagnosis neurosyphilis ... See more keywords