
Public meeting: FDA Rare Disease Day 2023
FDA, January 2023
Rare Disease Day at NIH 2023
NIH, December 2022
In a first, children with rare genetic diseases get mitochondrial transplants from their mothers
M Molteni, Stat News, December 21, 2022
They Created a Drug for Susannah. What About Millions of Other Patients?
EC Hayden et al, NY Times, December 19, 2022


Jalil Maaz, et al. Allergy & rhinology (Providence, R.I.) 2022 0 0. 21526575221096044
Lipopolysaccharide Responsive Beige-like Anchor Protein Deficiency in a Patient with Autoimmune Lymphoproliferative Syndrome-like Disease Phenotype: A Case Report and Literature Review.

Fetyan Saja, et al. Iranian journal of allergy, asthma, and immunology 2022 0 0. (2) 219-227
Circulating microRNA profiling is altered in the acute respiratory distress syndrome related to SARS-CoV-2 infection.

Garcia-Giralt Natalia, et al. Scientific reports 2022 0 0. (1) 6929
Identifying Potential Gene Defect Patterns Related to COVID-19 Based on Pharmacological and Bioinformatics Analysis for Lung Adenocarcinoma.

Lou Hongqiang, et al. International journal of general medicine 2022 0 0. 4285-4301
Artificial Intelligence Assisting the Early Detection of Active Pulmonary Tuberculosis From Chest X-Rays: A Population-Based Study.

Nijiati Mayidili et al. Frontiers in molecular biosciences 2022 9874475
TB-Net: A Tailored, Self-Attention Deep Convolutional Neural Network Design for Detection of Tuberculosis Cases From Chest X-Ray Images.

Wong Alexander et al. Frontiers in artificial intelligence 2022 5827299
Passive Immunotherapy Against SARS-CoV-2: From Plasma-Based Therapy to Single Potent Antibodies in the Race to Stay Ahead of the Variants.

Strohl William R, et al. BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy 2022 0 0.
'We're kind of like genetic nomads': Parents' experiences of biographical disruption and uncertainty following in/conclusive results from newborn cystic fibrosis screening.

Boardman Felicity et al. Social science & medicine (1982) 2022 301114972
A systematic review and standardized clinical validity assessment of genes involved in female reproductive failure.

Volozonoka Ludmila et al. Reproduction (Cambridge, England) 2022 163(6) 351-363
Association of Elevated Expression Levels of COL4A1 in Stromal Cells with an Immunosuppressive Tumor Microenvironment in Low-Grade Glioma, Pancreatic Adenocarcinoma, Skin Cutaneous Melanoma, and Stomach Adenocarcinoma.

Shin Hyo-Jae et al. Journal of personalized medicine 2022 12(4)
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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
- CDC Information (226)
- NIH Information (6418)
- COVID-19 (1817)
- CDC Publications (701)
- Human Genome Epidemiologic Studies (34660)
- GWAS Studies (737)
- Human Genomics Translation/Implementation Studies (4914)
- Genomic Tests Evidence Synthesis (481)
- Genomic Tests Guidelines (295)
- Tier-Classified Guidelines (95)
- Non-Genomics Precision Health (549)
- Pathogen Advanced Molecular Detection (2298)
- State Public Health Genomics Programs (71)
- Reviews/Commentaries (2369)
- Tools/Methods (54)
- Ethical/Legal and Social Issues (ELSI) (77)
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:Jul 25, 2022
- Page last updated:Jan 27, 2023
- Content source: