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Hot Topics of the Day|PHGKB
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03/14/2021

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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Tier 1 Guidelines on Family-Based Screening for Hereditary Hemochromatosis
D Dotson et al, CDC Blog Post, March 12, 2021 Brand

While our search identified no Tier 1 sources supporting population screening for HH, evidence-based guidelines do support Tier 1 designation for genetic counseling and testing of specific family members of people who are known to be p.C282Y homozygotes. The Tier 1 designation may also facilitate family-based awareness and diagnosis of HH and can influence clinical practice, as well as implementation research.

High household transmission of SARS-CoV-2 in the United States: living density, viral load, and disproportionate impact on communities of color
C Cerami et al MEDRXIV, March 12, 2021

Wastewater Surveillance of SARS-CoV-2 across 40 U.S. states
F Wu et al, MEDRXIV, March 12, 2021

Wastewater-based disease surveillance is a promising approach for monitoring community outbreaks. We describe a nationwide campaign to monitor SARS-CoV-2 in the wastewater of 159 counties in 40 U.S. states. Out of 1,751 total samples analyzed, 846 samples were positive for SARS-CoV-2 RNA, with viral concentrations declining from April to May. Wastewater viral titers were consistent with, and appeared to precede, clinical COVID-19 surveillance indicators, including daily new cases.

Genomic epidemiology of SARS-CoV-2 in the United Arab Emirates reveals novel virus mutation, patterns of co-infection and tissue specific host responses
R Liu et al, MEDRXIV, March 12, 2021

Detection of SARS-CoV-2 lineage P.1 in patients from a region with exponentially increasing hospitalization rates in February 2021, Rio Grande do Sul, Southern Brazil
AF Martins et al, MEDRXIV, March 12, 2021

Rapid screening for SARS-CoV-2 variants of concern in clinical and environmental samples using nested RT-PCR assays targeting key mutations of the Spike protein
G La Rosa et al, MEDRXIV, March 12, 2021

Mutation hotspots, geographical and temporal distribution of SARS-CoV-2 lineages in Brazil, February 2020 to February 2021: insights and limitations from uneven sequencing efforts
VB Franceschi et al, MEDRXIV, March 11, 2021

Proteome-wide Mendelian randomization identifies causal links between blood proteins and severe COVID-19
AB Palmos et al, MEDRXIV, March 11, 2021

EDITORIAL; COVID-19 lessons for research
FS Collins, Science, March 12, 2021

Coronavirus sequence trove sparks frustration
M Wadman, Science, March 12, 2021

The causal effect of serum vitamin D concentration on COVID-19 susceptibility, severity and hospitalization traits: a Mendelian randomization study
Z Cui et al, MEDRXIV, March 13, 2021

COVID-19 Risk Factors and Mortality among Native Americans
ML Barr et al, MEDRXIV, March 13, 2021

Is there a serum proteome signature to predict mortality in severe COVID-19 patients?
F Voellmy et al, MEDRXIV, March 13, 2021

Diurnal variation in SARS-CoV-2 PCR test results: Test accuracy may vary by time of day
CD McNaughton et al, MEDRXIV, March 13, 2021

Donanemab in Early Alzheimer’s Disease
A Mintun et al, NEJM, March 13, 20201

We conducted a phase 2 trial of donanemab in patients with early symptomatic Alzheimer’s disease who had tau and amyloid deposition on positron-emission tomography (PET). Patients were randomly assigned in a 1:1 ratio to receive donanemab (700 mg for the first three doses and 1400 mg thereafter) or placebo intravenously every 4 weeks for up to 72 weeks. donanemab resulted in a better composite score for cognition and for the ability to perform activities than placebo at 76 weeks.

The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation.
Schrezenmeier Eva et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 3

635 patients were investigated. Of these, 245 individuals had a known cause of CKD (38.5%) of which 119 had a proven genetic disease (e.g., ADPKD, Alport). Of the other 340 patients, 87 had kidney failure (KF) onset <40 years. We detected diagnostic variants in 26 of 126 patients (20.6%) of which 14 of 126 (11.1%) were pathogenic or likely pathogenic.


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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