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Hot Topics of the Day|PHGKB
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06/06/2021

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

Cystic Fibrosis
M Shteinberg et al, The Lancet, June 2021

Cystic fibrosis is a monogenic disease considered to affect at least 100?000 people worldwide. We present the current understanding of CFTR mutations, protein function, and disease pathophysiology, consider strengths and limitations of current management strategies, and look to the future of multidisciplinary care for those with cystic fibrosis.

Blood RNA signature RISK4LEP predicts leprosy years before clinical onset
MT Coma et al, Ebiomedicine, June 2, 2021

This study identifies for the first time a prospective transcriptional risk signature in blood predicting development of leprosy 4 to 61 months before clinical diagnosis. Assessment of this signature in contacts of leprosy patients can function as an adjunct diagnostic tool to target implementation of interventions to restrain leprosy development.

Maternal prenatal gut microbiota composition predicts child behaviour
SL Dawson et al, Ebiomedicine, June 4, 2021

We found evidence that the alpha diversity of the maternal fecal microbiota during the third trimester of pregnancy predicts child internalizing behavior at two years of age (-2·74, (-4·71, -0·78), p = 0·01 (Wald test), R2=0·07).

BRCA2: a 25-year journey from gene identification to targeted cancer treatment.
Grinda Thomas et al. The Lancet. Oncology 2021 6 (6) 763-764

BRCA2 is the leading susceptibility gene for breast and ovarian cancer, with cumulative risks at age 80 years of up to 69% and 17%, respectively. Germline BRCA2 alterations can be found in around 2·5% of unselected patients with breast cancer and 6% of patients with ovarian cancer. To a lesser extent, deleterious BRCA2 variants also increase the risk of other cancers, including prostate, esophagus, and pancreatic cancer.

The Disease Detective: Joe DeRisi invented a way to find pathogens that scientists didn’t even know to look for. Can it help prevent the next pandemic?
J Kahn, June 3, NY Times, June 5, 2021

The white box, when connected to an elaborate analysis system DeRisi had designed, allowed researchers from around the world to piece together all the different DNA or RNA recovered from just about any sample — throat swabs, blood draws or other material — and scan it for unidentified pathogens.


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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