Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content


Hot Topics of the Day|PHGKB
Search PHGKB:

01/30/2023

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.

Search Archive:
Archived Hot Topics of the Day By Date

How gene therapy is emerging from its 'dark age'.
Gemma Conroy et al. Nature 2022 12 (7940) S24-S26

With emerging treatments such as FLT180a in the pipeline, the future is beginning to look better for people with debilitating genetic diseases, from blood disorders to eye conditions. And although gene therapy still has a way to go before it becomes a routine treatment, the wave of approvals and clinical trials signal that the dark age of gene therapy could finally be over. “It’s here to stay.”

Declining Male Sperm Count Is at a Global Crisis Level
Medscape, January 30, 2023

A meta-analysis of sperm count in men on six continents shows an alarming decline that continues to accelerate, according to an international team of researchers. Overall, there is a significant worldwide decline in sperm counts of more than 50% in the past 46 years, a decline that has accelerated in recent years. Sperm count declines among men from South and Central America, Asia, Africa, North America, Europe, and Australia have accelerated in the last 5 years.

Insurance denials and diagnostic rates in a pediatric genomic research cohort
TN Zion et al, Genetics in Medicine, January 2023

Of the 801 patients analyzed, 147 had insurance prior-authorization denials on record (18.3%). Exome sequencing and microarray were the most frequently denied genetic tests. Of the 147patients with insurance denials, 53.7% had at least one diagnostic or candidate finding and 10.9% specifically had a clinically diagnostic finding. Fifty percent of patients with clinically diagnostic results had immediate medical management changes (5.4% of all patients experiencing denials).

A large-scale machine learning study of sociodemographic factors contributing to COVID-19 severity
M Tumbas et al, MEDRXIV, January 29, 2023

We assemble 115 predictors for more than 3000 US counties and employ a well-defined COVID-19 severity measure derived from epidemiological dynamics modeling. We then use a number of advanced feature selection techniques from machine learning to determine which of these predictors significantly impact the disease severity. We obtain a surprisingly simple result, where only two variables are clearly and robustly selected - population density and proportion of African Americans.

Omicron BA.1/BA.2 infections in triple-vaccinated individuals enhance a diverse repertoire of mucosal and blood immune responses
H Hornsby et al, MEDRXIV, January 29, 2023

We characterized mucosal and blood immunity to both spike and non-spike antigens following BA.1/BA.2 infections in triple mRNA-vaccinated individuals, with and without a history of previous SARS-CoV-2 infection. We find that the majority of individuals increase BA.1/BA.2/BA.5-specific NAb following infection, but confirm that the magnitude of increase and post-omicron titres are indeed higher in those who were infection-naive. In contrast, significant increases in nasal antibody responses are seen regardless of prior infection history.

Genomic surveillance of SARS-CoV-2 in COVID-19 vaccinated healthcare workers in Lebanon.
Habib AlKalamouni et al. BMC medical genomics 2023 1 (1) 14

As it turns 40, the Orphan Drug Act for rare diseases needs a refresh
ED Kakkis, Stat News, January 30, 2023

his month marks the 40th anniversary of the Orphan Drug Act. Since it was signed into law in 1983, the FDA has approved more than 1,100 treatments for rare diseases. The act also created an industry that didn’t exist in the United States before its enactment, enabling the formation of companies to develop and commercialize therapies for rare diseases.


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.
TOP