What is the purpose of launching the World Journal of Medical Genetics?

Congratulations to the publisher,members of the editorial board of the journal,all the authors and readers for launching the World Journal of Medical Genetics(WJMG)as a new member of the World series journal family!Following the completion of the Human Genome Project,medical genetic research has seen spectacular progress over the last decade.The number of genes that have been linked to Mendelian human traits has grown exponentially and currently this process is peaking with the access to robust genome-wide sequencing power.The genomics revolution is also seen for elucidation of rare and common DNA variants that increase risk for common disorders.Given this fast progress,there is an increasing need for making the results of genetics and genomics studies rapidly and freely available to the larger community.Thus,the decision for inaugurating this new journal is a timely one.The WJMG is a peer-reviewed,open-access periodical centered in all aspects of medical genetics research,with multidisciplinary coverage:from human phenotype to genetic and genomic mutations and variations to the study of pathological mechanisms.If you want to share new results of your research with a link to medical genetics with your peers,you will find the WJMG a good media to publish your papers!

凝聚专家的力量提高低收入国家的妇幼保健质量--美国出生缺陷基金会资助的全球妇幼保健协作项目

This short report describes a model for international collaboration on perinatal health that is innovative,highly-productive and challenging. The model,funded by the U.S. March of Dimes Foundation and entitled the 'March of Dimes Global Network for Maternal and Infant Health(GNMIH)' ,allows developing country experts to more easily share their knowledge,experience,skills and materials in ways that can improve women's,maternal,newborn and child health in lower-income countries. This report begins with a brief description of the March of Dimes and its Global Programs which oversees the GNMIH. It then discusses the structure of the GNMIH,with an emphasis on the benefits and challenges of working within the network,and concludes with a brief description of the acti-vities of network members.

Nucleoside reverse transcriptase inhibitors and Kamuvudines inhibit amyloid-βinduced retinal pigmented epithelium degeneration

Nonfibrillar amyloid-βoligomers(AβOs)are a major component of drusen,the sub-retinal pigmented epithelium(RPE)extracellular deposits characteristic of age-related macular degeneration(AMD),a common cause of global blindness.We report that AβOs induce RPE degeneration,a clinical hallmark of geographic atrophy(GA),a vision-threatening late stage of AMD that is currently untreatable.We demonstrate that AβOs induce activation of the NLRP3 inflammasome in the mouse RPE in vivo and that RPE expression of the purinergic ATP receptor P2RX7,an upstream mediator of NLRP3 inflammasome activation,is required for AβO-induced RPE degeneration.Two classes of small molecule inflammasome inhibitors—nucleoside reverse transcriptase inhibitors(NRTIs)and their antiretrovirally inert modified analog Kamuvudines—both inhibit AβOs-induced RPE degeneration.These findings crystallize the importance of P2RX7 and NLRP3 in a disease-relevant model of AMD and identify inflammasome inhibitors as potential treatments for GA.

Artemisinin, GABA signaling and cell reprogramming： when an old drug meets modern medicine

The hormone-secreting endocrine cells(α,β,δ,ε and PP cells)form pancreatic islets,which are strongly involved in regulation of metabolism.Deficiency of insulin-producingβcells is the major cause of type 1 diabetes.Recent progress in cell reprogramming demonstrates the feasibility of generating functionalβcells to treat type 1 diabetes[1].However,a non-invasive in vivo approach forβcell reprogramming is still lacking.Recently,two reports in