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Hot Topics of the Day|PHGKB
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06/01/2021

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

The UGT2A1/UGT2A2 locus is associated with COVID-19-related anosmia
JF Shelton et al, MEDRXIV, May 31, 2021

We ran a trans-ethnic genome-wide association study (GWAS) comparing loss of smell or taste (n=47,298) with no loss of smell or taste (n=22,543) among those with a positive SARS-CoV-2 test result. We identified an association (rs7688383) in the vicinity of the UGT2A1 and UGT2A2 genes (OR=1.115, p-value=4x10-15), which have been linked to olfactory function. These results may shed light on the biological mechanisms underlying COVID-19 related anosmia.

India’s COVID crisis flags need to forecast variants
A Agrawal, Nature News, June 1, 2021

Strategies for tackling COVID-19 must include new, faster ways to spot and stop the spread of alarming new mutants. This requires: more sharing of data and methods; funding to develop better predictions and simpler tests; and integration of genomics, informatics and public health.

Mendelian randomization analyses show that higher acetyl-carnitine and carnitine levels in blood protect against severe Covid19
N Kazmi et al, MEDRXIV, May 31, 2021

Correlation of vaccine-elicited antibody levels and neutralizing activities against SARS-CoV-2 and its variants
J Liu et al, BIORXIV, May 31, 2021

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
L Matalonga et al, EJHG, June 1, 2021

Reanalysis of inconclusive exome/genome sequencing data increases the diagnosis yield of patients with rare diseases. However, the cost and efforts required for reanalysis prevent its routine implementation in research and clinical environments. The Solve-RD project aims to reveal molecular causes underlying undiagnosed rare diseases. One of the goals is to implement innovative approaches to reanalyse the exomes and genomes from thousands of well-studied undiagnosed cases.

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
B Zurek et al, EJHG, June 1, 2021

Two major approaches are being pursued (i) massive data re-analysis of >19,000 unsolved rare disease patients and (ii) novel combined -omics approaches. The minimum requirement to be eligible for the analysis activities is an inconclusive exome that can be shared with controlled access. The first preliminary data re-analysis has already diagnosed 255 cases form 8393 exomes/genome datasets.


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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