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Rare Disease PHGKB

Specific PHGKB|Rare Diseases PHGKB|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Effective August 1, 2024, this database was discontinued. All content will remain searchable and be preserved online for historical purposes only until 2029.

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Screening Familial Risk for Hereditary Breast and Ovarian Cancer

From the abstract: "In a large health system, how many ungenotyped patients meet family history genetic testing criteria for hereditary breast and ovarian cancer? In this cross-sectional analysis, 2.9% of patients had no evidence of prior genetic testing but had electronic health records indicating they met family history criteria. These criteria were associated with significantly increased prevalence of genetic risk variants among 38?003 genotyped patients. These findings suggest that substantial gaps exist in identifying and testing patients meeting family history criteria for hereditary breast and ovarian cancer, and other methods may be needed to close these gaps. "

Advancing ASO therapies from development to implementation

From the abstract: "A novel application of antisense oligonucleotide (ASO) technology, developed to treat a single patient, adds to the growing number of ‘personalized’ therapies for rare diseases; but pathways to implementation and access are urgently needed. "

Rare developmental disorder caused by variants in a small RNA gene

From the article: "For many individuals with rare disease, finding the genetic cause is deeply important for them as well as for their families, and can sometimes open up possibilities for targeted treatment. In around 60% of cases, however, a cause cannot be found. Two independent teams discover that variants in a gene called RNU4-2 are among the most frequent causes of developmental disorders. Interestingly, this gene does not code for a protein but for a small RNA molecule involved in processing (splicing) other RNA molecules. "

FDA Rare Disease Innovation Hub to Enhance and Advance Outcomes for Patients

From the website: "An estimated 10,000+ rare diseases affect more than 30 million people – approximately one out of every 10 people – in the U.S., and about half of these people are children. Many rare conditions are life threatening, and most do not have approved treatments. Fundamental to the mission of the U.S. Food and Drug Administration is to engage patients and caregivers – to understand their unique perspectives and experiences and keep these front of mind as we review medical products for rare disease patients. "


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Predicting candidate biomarkers for COVID-19 associated with leukemia in children. External Web Site Icon
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Goel Nandini, et al. American journal of reproductive immunology (New York, N.Y. : 1989) 2025 0 0. (1) e70046
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Parental Factors Associated With Measles-Mumps-Rubella Vaccination in US Children Younger Than 5 Years. External Web Site Icon
Zhou Eric Geng, et al. American journal of public health 2025 0 0. e1-e5

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About Rare Diseases PHGKB

Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more

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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch 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.

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