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Rare Disease PHGKB

Specific PHGKB|Rare Diseases PHGKB|PHGKB

Last Posted: Sep 17, 2021
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Muscular Dystrophy
CDC, 2021

Muscular dystrophies are a group of genetic disorders that result in muscle weakness over time. Each type of muscular dystrophy is different from the others. It is important to get help as early as possible. Muscular dystrophy has no cure, but acting early may help an individual with muscular dystrophy get the services and treatments he or she needs to lead a full life.

Myotonic Dystrophy at a Glance
Myotonic Dystrophy Foundation, September 15,2021

Myotonic dystrophy is a rare, multi-systemic, inherited disease that affects an estimated 1 in 2,100 people, or over 3.6 million individuals across the world. International Myotonic Dystrophy Awareness Day aims to garner the attention of the wider general public, policy makers, regulators, biopharmaceutical representatives, researchers, health care professionals, and anyone with an interest in changing the future of myotonic dystrophy.

Finding a genomic cause: The clinician's role
Genomics Education Program, UK, 2021

It’s vital that you provide as much detailed information about the phenotype as possible – even if you’re not sure whether it’s relevant. Even a small omission of relevant information could alter the filtering process and mean the variant of interest is filtered out during one of the filtering stages outlined above. In addition, the handful of variants left for the clinical scientists to analyze at the end of the machine filtering process may be interpreted differently in light of the phenotypic information provided, so it’s vital that it is detailed and precise.

Health Equity and Genetic Disorders
CDC, August 2021

Public health efforts to achieve health equity need to include people with genetic disorders. Thousands of inherited genetic disorders affect millions of people in the United States. Genetic disorders include both single-gene disorders, such as cystic fibrosis and sickle cell disease, and conditions that make people more likely to develop common chronic diseases, such as hereditary breast and ovarian cancer syndrome, Lynch syndrome, and familial hypercholesterolemia.

news Latest News and Publications
Concordance between PCR-based extraction-free saliva and nasopharyngeal swabs for SARS-CoV-2 testing. External Web Site Icon
De Santi Chiara, et al. HRB open research 2021 0 0. 85
Fatality Rate and Survival Time of Laboratory-Confirmed COVID-19 for Patients in England During the First Wave of SARS-CoV-2 Infection: A Modelling Study. External Web Site Icon
Hillyar Christopher R, et al. Cureus 2021 0 0. (8) e16899
Genetic drift in the genome of SARS COV-2 and its global health concern. External Web Site Icon
Bano Iqra, et al. Journal of medical virology 2021 0 0.
Modeling and staged assessments of the controllability of spread for repeated outbreaks of COVID-19. External Web Site Icon
Hu Jianbing, et al. Nonlinear dynamics 2021 0 0. 1-14
Unmethylated CpG motif-containing genomic DNA fragments of bacillus calmette-guerin improves immune response towards a DNA vaccine for COVID-19. External Web Site Icon
Zhou Zehua, et al. Vaccine 2021 0 0.
[Current developments in hemostatic treatment for patients with hemophilia]. External Web Site Icon
Nogami Keiji et al. [Rinsho ketsueki] The Japanese journal of clinical hematology 2021 62(8) 1213-1221
An Ovarian Cancer Susceptible Gene Prediction Method Based on Deep Learning Methods. External Web Site Icon
Ye Lu et al. Frontiers in cell and developmental biology 2021 9730475
Challenging the dogma of the healthy heterozygote: Implications for newborn screening policies and practices. External Web Site Icon
Farrell Philip M et al. Molecular genetics and metabolism 2021
Development and evaluation of a machine learning-based point-of-care screening tool for genetic syndromes in children: a multinational retrospective study. External Web Site Icon
Porras Antonio R et al. The Lancet. Digital health 2021
Diagnostic yield of clinical exome sequencing as a first-tier genetic test for the diagnosis of genetic disorders in pediatric patients: results from a referral center study. External Web Site Icon
Mergnac Jean-Philippe et al. Human genetics 2021


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.