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Philadelphia, March 17, 2021 - Researchers from Children s Hospital of Philadelphia (CHOP) affiliated with the CHOP Epilepsy Neurogenetics Initiative (ENGIN) have compiled a complete genetic and clinical analysis of more than 400 individuals with SCN2A-related disorder, which has been linked to a variety of neurodevelopmental disorders, including epilepsy and autism. By linking clinical features to genetic abnormalities in a standardized format, the researchers hope their findings lead to improved identification and clinical intervention.
The study was published online by the journal
Genetics in Medicine.
Pathogenic variants in the SCN2A gene can lead to a wide range of clinical features - or phenotypes - associated with neurodevelopmental disorders. Several studies have described the genetic information collected on individuals with disease-causing changes in this gene. However, while genetic information is collected in a standardized manner, data on phenotypes is not
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GRAND RAPIDS, Mich. (March 16, 2021) Older age at the time of conception and alcohol consumption during pregnancy have long been known to impact fetal development.
Proceedings of the National Academy of Sciences suggests older age and alcohol consumption in the year leading up to conception also may have an impact by epigenetically altering a specific gene during development of human eggs, or oocytes.
Although the study did not determine the ultimate physical effects of this change, it provides important insights into the intricate relationship between environmental exposures, genetic regulation and human development. While the outcome of the change isn t clear, our findings give us a valuable look into how environmental factors affect gene regulation through epigenetics and imprinting, said Peter A. Jones, Ph.D., D.Sc. (hon), Van Andel Institute chief scientific officer and the study s senior author. A better understanding of these complex processes further our u
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Researchers Provide Complete Clinical Landscape for Major Gene Linked to Epilepsy and Autism
Researchers from Children’s Hospital of Philadelphia (CHOP) affiliated with the CHOP Epilepsy Neurogenetics Initiative (ENGIN) have compiled a complete genetic and clinical analysis of more than 400 individuals with SCN2A-related disorder, which has been linked to a variety of neurodevelopmental disorders, including epilepsy and autism. By linking clinical features to genetic abnormalities in a standardized format, the researchers hope their findings lead to improved identification and clinical intervention.
The study was published online by the journal Genetics in Medicine.
Pathogenic variants in the SCN2A gene can lead to a wide range of clinical features – or phenotypes – associated with neurodevelopmental disorders. Several studies have described the genetic information collected on individuals with disease-causing changes in this gene. However, while genetic informat
Antibody Mediated Prevention (AMP) trials data published by the
New England Journal of Medicine
Most advanced clinical trials testing broadly neutralizing antibody against HIV demonstrate efficacy against sensitive strains
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SEATTLE - (EMBARGOED UNTIL MARCH 17, 2021, AT 5 P.M. ET) - The proof-of-concept AMP studies demonstrated that a broadly neutralizing antibody (bnAb) called VRC01 was effective at preventing the acquisition of HIV strains to the 30% of strains that were sensitive to the bnAb. This finding was seen both in Sub-Saharan Africa and the U.S. and South America. VRCO1 did not prevent the acquisition of HIV to strains that were resistant to the bNAb. As the resistant strains constituted nearly 70% of the circulating strains in these regions, there was no difference noted between the VRC01 arms and placebo arm in terms of overall prevention of HIV acquisition. The sensitivity to bNAbs was assessed by a laborat
E-Mail Two-thirds of 1,120 healthcare workers surveyed worldwide would separate mothers and babies with a positive or unknown COVID-19 status. Implementing Kangaroo Mother Care and keeping mothers and babies together could save more than 125,000 newborn lives, representing 65x decreased risk of newborn death compared to the risk of newborn deaths from COVID-19. New research underscores the need for decision-makers and providers, particularly in LMICs, to protect and strengthen care for small and sick newborns during the pandemic.
The COVID-19 pandemic is affecting the quality of care given to small and sick newborn babies in all regions of the world and threatening implementation of life-saving interventions, suggests new research published in