
Public Health Genetics, Gene Therapy, and Duchenne Muscular Dystrophy
CDC Webinar, December 18, 2023 (Posted Nov 27, 2023 10AM)
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)
UK first to approve CRISPR treatment for diseases: what you need to know
C Wong. Nature. November 16, 2023 (Posted Nov 17, 2023 8AM)
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)


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.

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.

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?

Lucia Trevisan et al. Fam Cancer 2023
Molecular Diagnostic Yield of Exome Sequencing in Patients With Congenital Hydrocephalus: A Systematic Review and Meta-Analysis.

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.

Sarah Jane Driscoll et al. Arch Dis Child 2023
Prenatal diagnosis and genetic etiology analysis of talipes equinovarus by chromosomal microarray analysis.

Xiaorui Xie et al. BMC Med Genomics 2023 16(1) 298
Risk for Hereditary Neoplastic Syndromes in Women with Mismatch Repair-Proficient Endometrial Cancer.

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.

Miri Dotan et al. J Cyst Fibros 2023
Using Real-World Data to Inform Value-Based Contracts for Cell and Gene Therapies in Medicaid.

Antal Zemplenyi et al. Pharmacoeconomics 2023
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About Rare Diseases PHGKB
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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.
- Page last reviewed:Oct 1, 2023
- Page last updated:Dec 02, 2023
- Content source: