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Hot Topics of the Day|PHGKB
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Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.

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Archived Hot Topics of the Day By Date

Fragile X syndrome: Learning what families need, one person at a time.
CDC, July 2022 Brand

Fragile X syndrome (FXS) is a rare genetic disorder that has a major effect on a person’s life. It is the most common cause of inherited intellectual disability, yet there are still many unanswered questions about its effect on the day-to-day lives of people living with FXS and their families. Learn what CDC and partners are doing to learn more about FXS, one case at a time.

Mystery hepatitis cases in kids linked to unexpected viral suspect
J Kaiser, Science, May 25, 2022

Two preliminary studies finding adeno-associated viruses in pediatric hepatitis cases suggest a child’s genetic background and other viruses all act in concert. They used DNA and RNA sequencing of tissue samples from U.K. cases to look for about 200 different virus families. AAV2 jumped out. It was in liver or blood samples in all nine Scottish cases examined and 15 of 16 separate cases from all over the United Kingdom, according to the studies. In contrast, almost none of 158 controls, which included healthy children and children with hepatitis for known reasons, had AAV2. Both studies also found that all but two of 14 sick children tested carried a specific version of a type of gene called HLA that helps shape the body’s response to pathogens. The variant is particularly common in northern Europeans—16% of Scottish people carry it, and it is known to be linked to some autoimmune disorders.

Supporting undiagnosed participants when clinical genomics studies end.
Halley Meghan C et al. Nature genetics 2022 7

Many large research initiatives have cumulatively enrolled thousands of patients with a range of complex medical issues but no clear genetic etiology. However, it is unclear how researchers, institutions and funders should manage the data and relationships with those participants who remain undiagnosed when these studies end. In this Comment, we outline the current literature relevant to post-study obligations in clinical genomics research and discuss the application of current guidelines to research with undiagnosed participants.

Disclaimer: Articles listed in Hot Topics of the Day are selected by the CDC Office of Public Health Genomics to provide current awareness of the scientific 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 Clips, 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.