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Hot Topics of the Day|PHGKB
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12/07/2023

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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An expanded genomic database for identifying disease-related variants.
Ryan S Dhindsa et al. Nature 2023 12

From the article: " Scientists have long suspected that many disease-causing genetic mutations reside in the 98% of the genome that does not encode proteins, especially in regions that have roles in regulating gene expression. However, it has been challenging to differentiate systematically between harmful and neutral mutations, partly because researchers lack a clear picture of which stretches of the non-coding genome are essential for human health. A recent study addresses this challenge, introducing a tool that analyze large collections of human genomes to identify non-coding regions with greatest potential to cause disease."

Psychological impact of additional findings detected by genome-wide Non-Invasive Prenatal Testing (NIPT): TRIDENT-2 study
IM Bakkeren et al, EJHG, December 7, 2023

From the abstract: "A total of 227 (56.5%) women completed the questionnaire. Most (60.2%) chose to know additional findings because they wanted as much information as possible about the health of their fetus. Almost all (92%) stated that receiving the additional finding was unexpected, a shock, and/or they were in disbelief, for 85% it caused a lot of worry. Post-test, high anxiety (STAI) levels were reported in 15.5% of women, and 7.5% reported severe distress (IES). Women who gave birth to an affected child (n?=?10) experienced most psychological impact (STAI and IES). Eighty-six percent of women with a fetal aberration would opt for additional findings again, compared to 49.2% of women whose result was confined to the placenta. "

Self-copying RNA vaccine wins first full approval: what’s next?
E Dolgin, Nature News, December 6, 2023

From the article: " Conventional mRNA-based COVID-19 shots consist mainly of the genetic instructions for a viral protein that are surrounded by regulatory sequences. A cell’s machinery produces the protein for as long as these instructions persist, and that protein — known as an antigen — stimulates an immune response. By contrast, saRNA jabs go a step further by integrating the genes needed for the replication and synthesis of the antigen-encoding RNA, effectively establishing a biological printing press for fabricating the vaccine inside cells "

Multi-ancestry study of the genetics of problematic alcohol use in over 1 million individuals
H Zhou et al, Nature, December 6, 2023

From the abstract: "Problematic alcohol use (PAU), a trait that combines alcohol use disorder and alcohol-related problems assessed with a questionnaire, is a leading cause of death and morbidity worldwide. Here we conducted a large cross-ancestry meta-analysis of PAU in 1,079,947 individuals (European, N?=?903,147; African, N?=?122,571; Latin American, N?=?38,962; East Asian, N?=?13,551; and South Asian, N?=?1,716 ancestries). We observed a high degree of cross-ancestral similarity in the genetic architecture of PAU and identified 110 independent risk variants. "


Disclaimer: Articles listed in Hot Topics of the Day are selected by Public Health Genomics Branch 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.
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