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Hot Topics of the Day|PHGKB
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10/17/2023

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.

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Archived Hot Topics of the Day By Date

Population-based prevalence and mutational landscape of von Willebrand disease using large-scale genetic databases
O Seidizadeh et al, NPJ Genomic Medicine, October 16, 2023

From the abstract: "The global prevalence of dominant VWD in 1000 individuals was established to be 74 for type 1, 3 for 2A, 3 for 2B and 6 for 2M. The global prevalences for recessive VWD forms (type 2N and type 3) were 0.31 and 0.7 in 1000 individuals, respectively. This comprehensive analysis provided a global mutational landscape of VWF by means of 927 already reported variants in the HGMD and LOVD datasets and 287 novel pathogenic variants identified in the gnomAD. Our results reveal that there is a considerably higher than expected prevalence of putative disease alleles and variants associated with VWD and suggest that a large number of VWD patients are undiagnosed. "

Ready or not, genomic screening of fetuses is already here
NB Gold et al, Genetics in Medicine, October 17, 2023

From the paper: "Over the past decade, genomic sequencing has transformed our ability to provide diagnoses for fetuses who have abnormal imaging findings. The diagnostic yield of exome sequencing is 31% in fetuses with sonographic abnormalities who previously had a non-diagnostic karyotype and chromosomal microarray; this yield is even higher in fetuses with specific anomalies. Among apparently healthy fetuses and those with minor sonographic differences, one study found that 2.9%, or approximately 1 in 35, harbored pathogenic or likely pathogenic genetic variants. "

Personalized Medicine in Kidney Disease
G Gembilo et al, JPM, October 16, 2023

From the abstract: "Personalized medicine uses the phenotypes and genotypes of individuals to tailor the best therapeutic approach for each patient at the appropriate time, to identify a person’s propensity for disease, and/or to provide timely and targeted prevention. In the context of kidney diseases, it has the potential to completely transform patient care on the basis of individual traits and needs. In particular, personalized medicine approaches in chronic kidney disease (CKD) aim to tailor treatment strategies based on underlying causes, genetic factors, the rate of disease progression, and other personalized factors. "

Rare Variants of Obesity-Associated Genes in Young Adults with Abdominal Obesity
A Bairkdar et al, JPM, October 16, 2023

From the abstract: " In our study, all of the 203 young adults with abdominal obesity had some rare variant in the genes associated with obesity. The widest range of rare and common variants was presented in ADIPOQ, FTO, GLP1R, GHRL, and INS genes. The use of targeted sequencing and clinical criteria makes it possible to identify carriers of rare clinically significant variants in a wide range of obesity-associated genes and to investigate their influence on phenotypic manifestations of abdominal obesity."


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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