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Hot Topics of the Day|PHGKB
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01/25/2024

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

Deaf boy can now hear after breakthrough gene treatment
Medical XPress, January 23, 2024

From the article: " Gene therapy for hearing loss is something that we physicians and scientists in the world of hearing loss have been working toward for over 20 years, and it is finally here. While the gene therapy we performed in our patient was to correct an abnormality in one, very rare gene, these studies may open the door for future use for some of the over 150 other genes that cause childhood hearing loss."

Assessment of Mendelian and risk factor genes in Alzheimer disease: a prospective nationwide clinical utility study and recommendations for genetic screening
G Nicolas et al, Genetics in Med, January 24, 2024

From the abstract: "We included 700 patients in a prospective study and performed exome sequencing. A panel of 28 Mendelian and 6 risk-factor genes was interpreted and returned to patients. We built a framework for risk variant interpretation and risk gradation and assessed the detection rates among early-onset AD (EOAD, age of onset (AOO) =65 years, n=608) depending on AOO and pedigree structure and late-onset AD (LOAD, 66<AOO<75, n=92).Twenty-one patients carried a LP/P variant in a Mendelian gene (all with EOAD, 3.4%), 20/21 affected APP, PSEN1 or PSEN2. LP/P variant detection rates in EOAD ranged from 1.7% to 11.6% based on AOO and pedigree structure. "

Polygenic Risk in Families With Spontaneous Coronary Artery Dissection.
Ingrid Tarr et al. JAMA Cardiol 2024 1

From the abstract: "In this genetic association study including 13 families with SCAD, 173 individuals with sporadic SCAD, and 1127 controls, a polygenic risk score for SCAD was associated with significantly higher odds of disease in both familial and sporadic SCAD compared with healthy controls. We conclude that common genetic variants play an important role in all forms of SCAD, can potentially explain familial clustering, and further emphasize the complex genetic etiology of disease. "

Prospective study design and data analysis in UK Biobank.
Naomi E Allen et al. Sci Transl Med 2024 1 (729) eadf4428

From the abstract: " Population-based prospective studies, such as UK Biobank, are valuable for generating and testing hypotheses about the potential causes of human disease. We describe how UK Biobank’s study design, data access policies, and approaches to statistical analysis can help to minimize error and improve the interpretability of research findings, with implications for other population-based prospective studies being established worldwide."


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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