
Screening Familial Risk for Hereditary Breast and Ovarian Cancer
Advancing ASO therapies from development to implementation
Rare developmental disorder caused by variants in a small RNA gene
FDA Rare Disease Innovation Hub to Enhance and Advance Outcomes for Patients


Meher Vedashree R, et al. Pathophysiology : the official journal of the International Society for Pathophysiology 2025 0 0. (1)
Exosomes derived from syncytia induced by SARS-2-S promote the proliferation and metastasis of hepatocellular carcinoma cells.

Li Huilong, et al. Frontiers in cellular and infection microbiology 2025 0 0. 1415356
Predicting candidate biomarkers for COVID-19 associated with leukemia in children.

Bai Judy, et al. American journal of clinical and experimental immunology 2025 0 0. (6) 246-258
Safety of two-dose schedule of COVID-19 adsorbed inactivated vaccine (CoronaVac; Sinovac/Butantan) and heterologous additional doses of mRNA BNT162b2 (Pfizer/BioNTech) in immunocompromised and immunocompetent individuals.

Miyaji Karina Takesaki, et al. Revista do Instituto de Medicina Tropical de Sao Paulo 2025 0 0. e2
Role of IPF genetic risk loci in post-COVID-19 lung abnormalities: a cohort study.

Marinescu Daniel-Costin, et al. BMJ open respiratory research 2025 0 0. (1)
A Roadmap Towards the Identification and Validation of Conserved T Cell Epitope Regions in Viral Pathogen Families with Pandemic Potential.

Grifoni Alba, et al. Current pharmaceutical biotechnology 2025 0 0.
Advancing COVID-19 Treatment: The Role of Non-covalent Inhibitors Unveiled by Integrated Machine Learning and Network Pharmacology.

Qadir Saba, et al. Current pharmaceutical design 2025 0 0.
Better Outcomes for Ovarian Cancer Associated With the Detection of Anti-EBV TCR CDR3s: Potential Relevance to Diffuse Large B-Cell Lymphoma.

Goel Nandini, et al. American journal of reproductive immunology (New York, N.Y. : 1989) 2025 0 0. (1) e70046
OLAgen: A Software Tool for Reagent Design to Expand Access to Single Nucleotide Variant Detection by the Oligonucleotide Ligation Assay.

Nelson Dalton J, et al. The Journal of molecular diagnostics : JMD 2025 0 0.
Parental Factors Associated With Measles-Mumps-Rubella Vaccination in US Children Younger Than 5 Years.

Zhou Eric Geng, et al. American journal of public health 2025 0 0. e1-e5
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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 Public Health Genomics Branch 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:Feb 1, 2024
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