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Rare Disease PHGKB

Specific PHGKB|Rare Diseases PHGKB|PHGKB

Last Posted: Mar 02, 2021
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World Birth Defects Day, March 3, 2021
CDC, March 2021

March 3 is World Birth Defects Day. Join us to raise awareness of birth defects, their causes, and their impact around the world! Our theme is “Many birth defects, one voice.” Every year, about 3-6% of infants worldwide are born with a serious birth defect. This means that life-altering conditions like spina bifida and congenital heart defects affect millions of babies regardless of where they are born, their socioeconomic status, or their race or ethnicity.

Rare Diseases – a Research Priority for Everyone
AR Pariser, BMC medicine blog, February 2021

February 28, 2021 marks the 14th annual celebration of International Rare Disease Day, the one day a year when we honor the more than 300 million people worldwide living with a rare disease. This Rare Disease Day, we also take time to recognize the many advances in biomedical research that people living with rare diseases have contributed, and the benefits this research has brought to the lives of all people throughout the world living with both rare and common diseases.

Machine Learning of Patient Characteristics to Predict Admission Outcomes in the Undiagnosed Diseases Network
H Amiri et al, JAMA Network Open, February 25, 2021

Can machine learning algorithms reproduce the performance of clinical experts in determining whether to accept patients to the Undiagnosed Diseases Network for extensive genome-scale evaluation? This prognostic study developed a machine learning model using 2421 patient applications and evaluated the model through retrospective and prospective validation.

Rare versus common diseases: a false dichotomy in precision medicine
B Hon et al, NPJ Genomic Medicine, February 24, 2021

Precision medicine initiatives are being launched worldwide, each with the capacity to sequence many thousands to millions of human genomes. At the strategic planning level, all are debating the extent to which these resources will be directed towards rare diseases (and cancers) versus common diseases. However, these are not mutually exclusive choices.

news Latest News and Publications
Applications of Artificial Intelligence for Retinopathy of Prematurity Screening. External Web Site Icon
Campbell J Peter et al. Pediatrics 2021
Automatic multilabel detection of ICD10 codes in Dutch cardiology discharge letters using neural networks. External Web Site Icon
Sammani Arjan et al. NPJ digital medicine 2021 4(1) 37
Trends of pulmonary fungal infections from 2013-2019: an AI-based real-world observational study in Guangzhou, China. External Web Site Icon
Li Zhengtu et al. Emerging microbes & infections 2021 1-31
A serum-based DNA methylation assay provides accurate detection of glioma. External Web Site Icon
Sabedot Thais et al. Neuro-oncology 2021 Feb
Assessment of Spinal Muscular Atrophy Carrier Status by Determining SMN1 Copy Number Using Dried Blood Spots. External Web Site Icon
Wijaya Yogik Onky Silvana et al. International journal of neonatal screening 2020 May 6(2)
Clinical significance of E148Q heterozygous variant in paediatric Familial Mediterranean Fever. External Web Site Icon
Tirosh Irit et al. Rheumatology (Oxford, England) 2021 Feb
Constructing a Bioethical Framework to Evaluate and Optimise Newborn Bloodspot Screening for Cystic Fibrosis. External Web Site Icon
Armstrong Rachael E et al. International journal of neonatal screening 2020 May 6(2)
Identification of 6 gene markers for survival prediction in osteosarcoma cases based on multi-omics analysis. External Web Site Icon
Li Runmin et al. Experimental biology and medicine (Maywood, N.J.) 2021 Feb 1535370221992015
Inconclusive Diagnosis after Newborn Screening for Cystic Fibrosis. External Web Site Icon
Munck Anne et al. International journal of neonatal screening 2020 Mar 6(1)
Newborn Screening for CF across the Globe- Where Is It Worthwhile ? External Web Site Icon
Scotet Virginie et al. International journal of neonatal screening 2020 Mar 6(1)


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.