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Hot Topics of the Day|PHGKB
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07/27/2020

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

Engineering Better Medicine for Public Health Crises and the Future
RI Pettigrew, National Academy of Medicine, July 27, 2020

The engineering “to-do” list to combat COVID-19 and assist in safely opening society is long. It includes the expedited design and distribution of rapid point-of-care and at-home diagnostic tests, predictive analytics that indicate infection before symptoms are evident, efficient contact tracing systems, effective anti-viral and immunomodulatory drugs and more.

Need for sustainable biobanking networks for COVID-19 and other diseases of epidemic potential
RW Peeling, Lancet Infectious Diseases

Longitudinal analyses reveal immunological misfiring in severe COVID-19
C Lukas et al, Nature, July 27, 2020

We identified development of maladapted immune response profile associated with severe COVID-19 outcome and early immune signatures that correlate with divergent disease trajectories. The immune profile of patients who recovered was enriched in tissue reparative growth factor signature, while those with worse disease had elevated levels of all four signatures.

Rare TLR7 Variants Implicated in COVID-19 Severity in Case Study of Affected Brothers
Genome Web, July 24, 2020

Systematic evaluation and external validation of 22 prognostic models among hospitalised adults with COVID-19: An observational cohort study
RK Gupta et al, MEDRXIV, July 26, 2020

Oxygen saturation on room air and patient age are strong predictors of deterioration and mortality among hospitalised adults with COVID-19, respectively. None of the prognostic models evaluated offer incremental value for patient stratification to these univariable predictors.

Population genetic screening efficiently identifies carriers of autosomal dominant diseases
JJ Grzymski et al, Nature Medicine, July 27, 2020

In a cohort of 26,906 participants in the Healthy Nevada Project, we found a 1.33% combined carrier rate for pathogenic and likely pathogenic genetic variants for HBOC, LS and FH. Of these carriers, 21.9% had clinically relevant disease, 90% had not been previously identified, and <19.8% had documentation in medical records of inherited risk, including family history.

Polygenic risk scores: What are they and what can public health do with them?
CDC Webinar with DR Cecile Janssens, August 13, 2020 Brand

This mini-course will provide an introduction to polygenic risk score models, including examples for cancer and cardiovascular disease. Discussions will include how to develop and validate these models.

A Boy With Muscular Dystrophy Was Headed For A Wheelchair. Then Gene Therapy Arrived
J Hamilton, NPR, July 27, 2020

Nine boys with Duchenne have received gene therapy. Preliminary results on six of them, tested a year after treatment, showed they had improved strength and endurance at an age when boys with Duchenne usually become weaker. The success suggests that gene therapy could be poised to change the lives of thousands of children — usually boys —who have Duchenne.


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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