A much-awaited paper1 reports on the analysis of 60,706 high-quality exome data from individuals of diverse ethnicity ((despite an unfortunate lack of samples from the Middle East in that cohort) by Monkol Lek and colleagues of the Exome Aggregation Consortium. The team found 3,230 genes that are highly conserved across exomes, indicating likely involvement in critical cellular functions. Of these, 2,557 are not associated with diseases. The authors hypothesized that these genes, if mutated, either lead to embryonic death—before a problem can be diagnosed—or cause rare diseases that have not yet been genetically characterized.
(1) Lek, Monkol, et al. "Analysis of protein-coding genetic variation in 60,706 humans." bioRxiv (2015): 030338. doi: http://dx.doi.org/10.1101/030338
Please note: bioRxiv is the preprint server for biology, operated by Cold Spring Harbor Laboratory, a research and educational institution.
Beginning with the Oct. 23, 2015, Supplements to Morbidity and Mortality Weekly Report (MMWR), CDC will publish the summaries of all notifiable conditions – infectious and noninfectious – at the same time. Together, these two reports provide official statistics for all nationally notifiable conditions in the same MMWR volume. Notifiable diseases and conditions are those for which regular, frequent, and timely information is necessary for prevention and control. Monitoring this data gives CDC and other public health authorities the ability to detect and respond to sudden changes in the occurrence and distribution of health threats. State and local health departments voluntarily submit the data to CDC.
October 16, 2015. Public Health Genomics Knowledge Base (PHGKB) Beta Version is an online, searchable database of published scientific literature, CDC resources, and other material that addresses the translation of genomic discoveries into improved health care and disease prevention. It is a compendium of many databases curated by CDC staff and is regularly updated to reflect ongoing developments in the field.
Tuesday October 20, 2015 NIH study reveals risk of drug-resistant malaria parasites spreading to Africa ARTICLE: St. Laurent B et al. Artemisinin-resistant Plasmodium falciparum clinical isolates can infect diverse mosquito vectors of Southeast Asia and Africa. Nature Communications 6. (October 2015). DOI: 10.1038/ncomms9614
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September 10, 2015: Public Health Resources
July 1, 2015: HHS launches National Ebola Training and Education Center by funding the Emory University in Atlanta, Georgia; University of Nebraska Medical Center/Nebraska Medicine in Omaha, Nebraska; and Bellevue Hospital Center in New York City, New York, to train, and prepare other U.S. health care facilities for Ebola and emerging threats.
February 18, 2015: HHS selects nine regional Ebola and other special pathogen treatment centers that are part of a national network of 55 Ebola treatment centers, but will have enhanced capabilities to treat a patient with confirmed Ebola or other highly virulent disease.
The chosen awardees to be continuously ready and available to care for a patient with Ebola or another severe, highly infectious disease, whether the patient is medically evacuated from overseas or is diagnosed within the United States in New York and New Jersey.