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Rare Disease PHGKB

Specific PHGKB|Rare Diseases PHGKB|PHGKB

Last Posted: Jun 18, 2021
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Solving the unsolved rare diseases in Europe
E Graessner et al, EJHG, June 18, 2021

Getting a diagnosis can be a long and arduous process for a patient with a rare disease. Some patients take months, years, or even their entire lives to receive a proper diagnosis and occasionally corresponding therapy. Around 50 percent of patients with a rare disease remain undiagnosed even in advanced expert clinical settings where Whole Exome Sequencing (WES) is applied routinely as a diagnostic approach.

Summer Camp, A Place Where A Kid Can Just Be A Kid… Even If He Or She Has Sickle Cell Disease
CDC, June 2021

Summer camp can positively affect any child’s mental and physical health, but perhaps even more so if the child lives with a chronic medical condition such as sickle cell disease (SCD). For these children, the summer camp experience can provide support and education and reduce the social isolation so often experienced by those with a challenging health condition.

Phenotypic signatures in clinical data enable systematic identification of patients for genetic testing
TJ Morley et al, Nature Medicine, June 3, 2021

Around 5% of the population is affected by a rare genetic disease, yet most endure years of uncertainty before receiving a genetic test. A common feature of genetic diseases is the presence of multiple rare phenotypes that often span organ systems. Here, we use diagnostic billing information from longitudinal clinical data in the electronic health records (EHRs) of 2,286 patients who received a chromosomal microarray test, and 9,144 matched controls, to build a model to predict who should receive a genetic test.

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
L Matalonga et al, EJHG, June 1, 2021

Reanalysis of inconclusive exome/genome sequencing data increases the diagnosis yield of patients with rare diseases. However, the cost and efforts required for reanalysis prevent its routine implementation in research and clinical environments. The Solve-RD project aims to reveal molecular causes underlying undiagnosed rare diseases. One of the goals is to implement innovative approaches to reanalyse the exomes and genomes from thousands of well-studied undiagnosed cases.

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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.