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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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10 hot topic(s) found with the query "Prion disease"

Genetic counseling for prion disease: Updates and best practice
JS Goldman, et al, Genetics in Medicine, July 12, 2022 (Posted: Jul 12, 2022 1PM)

Several recent developments inspire this update in best practices for prion disease genetic counseling. A new prion-detection assay has transformed symptomatic diagnosis. Meanwhile, penetrance, age of onset, and duration of illness have been systematically characterized across PRNP variants in a global cohort. Clinically, the traditional genotype–phenotype correlation has weakened over time, and the term genetic prion disease may now better serve providers than the historical subtypes Creutzfeldt-Jakob disease, fatal familial insomnia.

Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study
E Jones et al, Lancet Neurology, October 2020 (Posted: Sep 30, 2020 9AM)

This is the first evidence of statistically robust genetic associations in sporadic human prion disease that implicate intracellular trafficking and sphingolipid metabolism as molecular causal mechanisms. Risk SNPs in STX6 are shared with progressive supranuclear palsy, a neurodegenerative disease associated with misfolding of protein tau.

The Married Researchers Racing to Stop Prion Disease
S Minikel Vallabh et al, Scientific American, March 2020 (Posted: Feb 21, 2020 9AM)

By the end of the year, we knew that Sonia had indeed inherited the dreaded mutation. Since then, we have been on a mission. Success means keeping Sonia’s brain, and those of others like her, healthy and fully functional for years or decades, hopefully for a lifetime.

The Patient-Scientist's Mandate.
Vallabh Sonia M et al. The New England journal of medicine 2020 Jan (2) 107-109 (Posted: Jan 09, 2020 8AM)

8 years ago, at the age of 27, I learned that I had inherited a fatal genetic mutation in the prion protein gene). Pathogenic mutations in this gene cause prion disease, a rare adult-onset neurodegenerative disease that is rapidly fatal once it strikes. The mutation I carry makes me nearly certain to die of this disease if no preventive measure is developed.

Prion protein quantification in human cerebrospinal fluid as a tool for prion disease drug development.
Vallabh Sonia M et al. Proceedings of the National Academy of Sciences of the United States of America 2019 Apr (Posted: Apr 15, 2019 8AM)

Prion Disease Induces Alzheimer Disease-Like Neuropathologic Changes.
Tousseyn Thomas et al. Journal of neuropathology and experimental neurology 2015 Sep (9) 873-88 (Posted: Jan 21, 2016 8AM)

Quantifying prion disease penetrance using large population control cohorts
EV Minikel et al, Science Translational Medicine, January 20, 2016 (Posted: Jan 20, 2016 2PM)

The influence of PRNP polymorphisms on human prion disease susceptibility: an update.
Kobayashi Atsushi et al. Acta Neuropathol. 2015 May 29. (Posted: Jun 11, 2015 4AM)

Genetic mutation blocks prion disease: Unknown mechanism helped some people in Papua New Guinea escape historic, deadly outbreak.
B Deng. Nature News and Comments, June 10, 2015 (Posted: Jun 11, 2015 4AM)

A naturally occurring variant of the human prion protein completely prevents prion disease.
Asante Emmanuel A et al. Nature 2015 Jun 10. (Posted: Jun 11, 2015 4AM)


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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