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Rare Disease PHGKB

Specific PHGKB|Rare Diseases PHGKB|PHGKB

Last Posted: Dec 01, 2023
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Public Health Genetics, Gene Therapy, and Duchenne Muscular Dystrophy
CDC Webinar, December 18, 2023 (Posted Nov 27, 2023 10AM)

From the website: "This webinar will review the population health impact of rare diseases such as DMD. Presenters will cover the genetics and clinical impact of DMD, the evolution of gene therapy, the development of FDA-approved gene therapy to treat the underlying protein deficiency that causes DMD, and the health equity challenges. "

Monogenic etiologies of persistent human papillomavirus infections: a comprehensive systematic review
S Biglari et al, Genetics in Medicine, November 2023 (Posted Nov 17, 2023 8AM)

From the abstract: " Persistent human papillomavirus infection (PHPVI) causes cutaneous, anogenital, and mucosal warts. Cutaneous warts include common warts, Treeman syndrome, and epidermodysplasia verruciformis, among others. Although more reports of monogenic predisposition to PHPVI have been published with the development of genomic technologies, genetic testing is rarely incorporated into clinical assessments. In this systematic review, we found that PHPVI has at least 83 monogenic etiologies and a genetic diagnosis is essential for effective management."

UK first to approve CRISPR treatment for diseases: what you need to know
C Wong. Nature. November 16, 2023 (Posted Nov 17, 2023 8AM)

From the article: "In a world first, the UK medicines regulator has approved a therapy that uses CRISPR gene editing as a treatment for diseases. The decision marks another high point for a biotechnology that has regularly been lauded as revolutionary in the decade since its discovery. The therapy will treat the blood conditions sickle-cell disease and ß-thalassaemia. Sickle-cell disease, also known as sickle-cell anaemia, can cause debilitating pain, and people with ß-thalassaemia can require regular blood transfusion. "

Robust airway microbiome signatures in acute respiratory failure and hospital-acquired pneumonia.
Emmanuel Montassier et al. Nat Med 2023 11 (Posted Nov 14, 2023 9AM)

From the abstract: "Respiratory microbial dysbiosis is associated with acute respiratory distress syndrome (ARDS) and hospital-acquired pneumonia (HAP) in critically ill patients. However, we lack reproducible respiratory microbiome signatures that can increase our understanding of these conditions and potential treatments. Here, we analyze 16S rRNA sequencing data from 2,177 respiratory samples collected from 1,029 critically ill patients (21.7% with ARDS and 26.3% with HAP) and 327 healthy controls. Using machine learning models, we identified clinically informative, three- and four-factor signatures that predicted ARDS, HAP and prolonged mechanical ventilation with relatively high accuracy (area under the curve of 0.751, 0.72 and 0.727, respectively). "

news Latest News and Publications
Epigenetic age acceleration in surviving versus deceased COVID-19 patients with acute respiratory distress syndrome following hospitalization. External Web Site Icon
Bejaoui Yosra, et al. Clinical epigenetics 2023 0 0. (1) 186
HLA-B27 did not protect against COVID-19 in patients with axial spondyloarthritis - data from the ReumaCov-Brasil Registry. External Web Site Icon
Mota G D, et al. Advances in rheumatology (London, England) 2023 0 0. (1) 56
Variant rs4986790 of TLR4 affects the signaling and induces cell dysfunction in severe COVID-19 patients. External Web Site Icon
Flores-Gonzalez Julio, et al. International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases 2023 0 0.
Cascade testing in Italian Hereditary Breast Ovarian Cancer families: a missed opportunity for cancer prevention? External Web Site Icon
Lucia Trevisan et al. Fam Cancer 2023
Molecular Diagnostic Yield of Exome Sequencing in Patients With Congenital Hydrocephalus: A Systematic Review and Meta-Analysis. External Web Site Icon
Ana B W Greenberg et al. JAMA Netw Open 2023 6(11) e2343384
Outcome data from 15 years of cystic fibrosis newborn screening in a large UK region. External Web Site Icon
Sarah Jane Driscoll et al. Arch Dis Child 2023
Prenatal diagnosis and genetic etiology analysis of talipes equinovarus by chromosomal microarray analysis. External Web Site Icon
Xiaorui Xie et al. BMC Med Genomics 2023 16(1) 298
Risk for Hereditary Neoplastic Syndromes in Women with Mismatch Repair-Proficient Endometrial Cancer. External Web Site Icon
Jennifer Thalita Targino Dos Santos et al. Genes (Basel) 2023 14(11)
The new face of cystic fibrosis in the era of population genetic carrier screening. External Web Site Icon
Miri Dotan et al. J Cyst Fibros 2023
Using Real-World Data to Inform Value-Based Contracts for Cell and Gene Therapies in Medicaid. External Web Site Icon
Antal Zemplenyi et al. Pharmacoeconomics 2023


Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the 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 update, 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.