Perspectives of Rare Disease Experts on Newborn Genome Sequencing
Sign Up to like & getrecommendations! Published in 2023 at "JAMA Network Open"
DOI: 10.1001/jamanetworkopen.2023.12231
Abstract: Key Points Question Do rare disease experts endorse genome sequencing of newborns to screen for treatable genetic diseases, and do they agree on which genes to include? Findings In this survey study of 238 rare… read more here.
Keywords: rare disease; genome sequencing; disease; perspectives rare ... See more keywords
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
PatientMatcher: a customizable Python-based open-source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network.
Sign Up to like & getrecommendations! Published in 2022 at "Human mutation"
DOI: 10.1002/humu.24358
Abstract: The amount of data available from genomic medicine has revolutionized the approach to identify the determinants underlying many rare diseases. The task of confirming a genotype-phenotype causality for a patient affected with a rare genetic… read more here.
Keywords: medicine; open source; disease; network ... See more keywords
seqr: A web‐based analysis and collaboration tool for rare disease genomics
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24366
Abstract: Exome and genome sequencing have become the tools of choice for rare disease diagnosis, leading to large amounts of data available for analyses. To identify causal variants in these datasets, powerful filtering and decision support… read more here.
Keywords: web based; tool; rare disease; disease ... See more keywords
Phenotype‐driven approaches to enhance variant prioritization and diagnosis of rare disease
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24380
Abstract: Rare disease diagnostics and disease gene discovery have been revolutionized by whole‐exome and genome sequencing but identifying the causative variant(s) from the millions in each individual remains challenging. The use of deep phenotyping of patients… read more here.
Keywords: rare disease; phenotype driven; disease; diagnosis ... See more keywords
Health Technology Assessment and Appraisal of Therapies for Rare Diseases.
Sign Up to like & getrecommendations! Published in 2017 at "Advances in experimental medicine and biology"
DOI: 10.1007/978-3-319-67144-4_13
Abstract: Innovative rare disease therapies and health technology assessment (HTA) share a lot of similarities. Both represent cases of interaction of epidemiology and health economics. Both are relatively new topics in public health practice. And both… read more here.
Keywords: health; rare disease; technology assessment; health technology ... See more keywords
Atherosclerosis should be a rare disease in the lives of children born today
Sign Up to like & getrecommendations! Published in 2017 at "Netherlands Heart Journal"
DOI: 10.1007/s12471-017-0976-1
Abstract: The spectacular fall in cardiovascular mortality that has occurred in most western societies in the past 40 years has contributed significantly to a steady rise in life expectancy. The Royal Dutch Actuarial Association has estimated,… read more here.
Keywords: atherosclerosis rare; rare disease; disease; children born ... See more keywords
Human germline genome editing is illegal in Canada, but could it be desirable for some members of the rare disease community?
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Community Genetics"
DOI: 10.1007/s12687-019-00430-x
Abstract: Human germline genome editing may prove to be especially poignant for members of the rare disease community, many of whom are diagnosed with monogenic diseases. This community lacks broad representation in the literature surrounding genome… read more here.
Keywords: genome editing; germline genome; community; rare disease ... See more keywords
Factors Influencing the Generation of Evidence from Simple Data Held in International Rare Disease Patient Registries
Sign Up to like & getrecommendations! Published in 2019 at "Pharmaceutical Medicine"
DOI: 10.1007/s40290-019-00316-w
Abstract: Background Rare diseases (defined as affecting read more here.
Keywords: patient registries; rare disease; disease; evidence ... See more keywords
Rare Disease Mechanisms Identified by Genealogical Proteomics of Copper Homeostasis Mutant Pedigrees.
Sign Up to like & getrecommendations! Published in 2018 at "Cell systems"
DOI: 10.1016/j.cels.2018.01.008
Abstract: Rare neurological diseases shed light onto universal neurobiological processes. However, molecular mechanisms connecting genetic defects to their disease phenotypes are elusive. Here, we obtain mechanistic information by comparing proteomes of cells from individuals with rare… read more here.
Keywords: mechanisms identified; identified genealogical; disease mechanisms; rare disease ... See more keywords
MultiPLIER: A Transfer Learning Framework for Transcriptomics Reveals Systemic Features of Rare Disease.
Sign Up to like & getrecommendations! Published in 2019 at "Cell systems"
DOI: 10.1016/j.cels.2019.04.003
Abstract: Most gene expression datasets generated by individual researchers are too small to fully benefit from unsupervised machine-learning methods. In the case of rare diseases, there may be too few cases available, even when multiple studies are… read more here.
Keywords: transfer learning; rare disease; disease; multiplier transfer ... See more keywords