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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 will be discontinued. All content will remain searchable and be preserved online for historical purposes only until 2029.

Last Posted: Jul 25, 2024
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FDA Rare Disease Innovation Hub to Enhance and Advance Outcomes for Patients
(Posted Jul 22, 2024 11AM)

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. "

A roadmap for affordable genetic medicines
(Posted Jul 18, 2024 8AM)

From the abstract: "Nineteen genetic therapies have been approved by the U.S. Food and Drug Administration (FDA) to date, a number that now includes the first CRISPR genome editing therapy for sickle cell disease, CASGEVY (exagamglogene autotemcel). This extraordinary milestone is widely celebrated because of the promise for future genome editing treatments of previously intractable genetic disorders and cancers. At the same time, such genetic therapies are the most expensive drugs on the market, with list prices exceeding $4 million per patient. "

Efanesoctocog Alfa Prophylaxis for Children with Severe Hemophilia A
(Posted Jul 18, 2024 7AM)

From the abstract: "In children with severe hemophilia A, once-weekly prophylaxis with efanesoctocog alfa provided high sustained factor VIII activity in the normal to near-normal range (>40 IU per deciliter) for 3 days and more than 10 IU per deciliter for almost 7 days after administration, leading to effective bleeding prevention. Efanesoctocog alfa was associated with mainly nonserious adverse events. "

Health Care Costs After Genome-Wide Sequencing for Children With Rare Diseases in England and Canada
(Posted Jul 15, 2024 9AM)

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. "


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Identifying risk factors for severe omicron infection in allogeneic hematopoietic stem cell transplant recipients with hematologic malignancies. External Web Site Icon
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Bringing optimised COVID-19 vaccine schedules to immunocompromised populations (BOOST-IC): study protocol for an adaptive randomised controlled clinical trial. External Web Site Icon
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Diagnostic landscape of first-time cytometric screening for paroxysmal nocturnal hemoglobinuria in Poland in 2013-2022. External Web Site Icon
Spychalska Justyna, et al. Orphanet journal of rare diseases 2024 0 0. (1) 271
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Imaging of Biliary Tree Abnormalities. External Web Site Icon
Lopes Vendrami Camila, et al. Radiographics : a review publication of the Radiological Society of North America, Inc 2024 0 0. (8) e230174

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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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