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.
Sign up MyPHGKB to receive the daily hot topic email alert.
Archived Hot Topics of the Day By Date
Common variants at 21q22.3 locus influence MX1 gene expression and susceptibility to severe COVID-19
I Andolfo et al, MEDRXIV, December 20, 2020
We performed a genetic analysis of chromosome 21 exploiting the genome-wide association study data including 6,406 individuals hospitalized for COVID-19 and 902,088 controls with European genetic ancestry. We found that five single nucleotide polymorphisms within TMPRSS2 and near MX1 gene show suggestive associations (P=1x10-5) with severe COVID-19.
Mutant coronavirus in the United Kingdom sets off alarms but its importance remains unclear
K Kupferschmidt, Science December 20, 2020
Not only were half the cases caused by one specific variant of SARS-CoV-2, but that variant was sitting on a branch of the tree that literally stuck out from the rest of the data. Scientists are hard at work trying to figure out whether B.1.1.7 is really more adept at human-to-human transmission—not everyone is convinced yet—and if so, why.
The lightning-fast quest for COVID vaccines — and what it means for other diseases
The speedy approach used to tackle SARS-CoV-2 could change the future of vaccine science
P Ball, Nature News, December 18, 2-2-
The world was able to develop COVID-19 vaccines so quickly because of years of previous research on related viruses and faster ways to manufacture vaccines, enormous funding that allowed firms to run multiple trials in parallel, and regulators moving more quickly than normal.
Difficult trade-offs in response to COVID-19: the case for open and inclusive decision making.
Norheim Ole F et al. Nature medicine 2020 Dec
The COVID-19 pandemic has forced governments to make difficult choices that profoundly affect the health, wealth and freedoms of their populations. A deliberative decision making that is inclusive, transparent and accountable can contribute to more trustworthy and legitimate decisions on difficult ethical questions and trade-offs during the pandemic and beyond.
The Advisory Committee on Immunization Practices’ Interim Recommendation for Use of Moderna COVID-19 Vaccine — United States, December 2020
SE Oliver et al, MMWR, December 20, 2020
Covid-19: New coronavirus variant is identified in UK
J Wise, BMJ, December 16, 2020
It’s been named VUI-202012/01 (the first “Variant Under Investigation”) and is defined by a set of 17 changes or mutations. One of the most significant is an N501Y mutation in the spike protein that the virus uses to bind to the human ACE2 receptor. Changes in this part of spike protein may, in theory, result in the virus becoming more infectious.
The Coronavirus Is Mutating. What Does That Mean for Us?
Officials in Britain and South Africa claim new variants are more easily transmitted. There’s a lot more to the story, scientists say.
A Mandavilli, NY Times, December 20, 2020
Recurrent pregnancy loss
E Dimitriadis et al, Nature DIs Primers, December 2020
Recurrent pregnancy loss can be caused by chromosomal errors, anatomical uterine defects, autoimmune disorders and endometrial dysfunction. Available treatments target the putative risk factors of pregnancy loss, although the effectiveness of many medical interventions is controversial.
Advancing digital health: FDA innovation during COVID-19
K Kadakia et al, NPJ Digital Medicine, December 2020
The U.S. Food and Drug Administration (FDA) has issued a number of temporary policies to support digital health innovation during the pandemic, such as guidance documents to expand the use of digital therapeutics for psychiatric disorders and medical devices for remote patient monitoring.