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Last Posted: Aug 12, 2024
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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. "

Health Care Costs After Genome-Wide Sequencing for Children With Rare Diseases in England and Canada

From the abstract: "Is diagnosis from genome-wide sequencing associated with reduced health care costs for children with suspected rare diseases? Findings: In this cohort study of 3 groups of children who underwent genome-wide sequencing in England (7775 children in a research study) or Canada (118 children who received publicly funded sequencing and 77 children in a research study), diagnosis from genome-wide sequencing was not associated with changes in health care or diagnostic costs. Meaning: These findings suggest that sustainable clinical implementation of genome-wide sequencing must be motivated by evidence of patient and family benefit and cost-effectiveness rather than promises of cost savings from earlier diagnosis. "

Equity in action: The Diagnostic Working Group of The Undiagnosed Diseases Network International

From the abstract: "Rare diseases are recognized as a global public health priority. A timely and accurate diagnosis is a critical enabler for precise and personalized health care. However, barriers to rare disease diagnoses are especially steep for those from historically underserved communities, including low- and middle-income countries. The Undiagnosed Diseases Network International (UDNI) was launched in 2015 to help fill the knowledge gaps that impede diagnosis for rare diseases, and to foster the translation of research into medical practice, aided by active patient involvement. "

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Disclaimer: Articles listed in the Public Health Genomics and Precision 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.

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