Warren symposium follows legacy of geneticist giant

If we want to understand how the brain creates memories, and how genetic disorders distort the brain’s machinery, then the fragile X gene is an ideal place to start. That’s why the Stephen T. Warren Memorial Symposium, taking place November 28-29 at Emory, will be a significant event for those interested in neuroscience and genetics. Stephen T. Warren, 1953-2021 Warren, the founding chair of Emory’s Department of Human Genetics, led an international team that discovered Read more

Mutations in V-ATPase proton pump implicated in epilepsy syndrome

Why and how disrupting V-ATPase function leads to epilepsy, researchers are just starting to figure Read more

Tracing the start of COVID-19 in GA

At a time when COVID-19 appears to be receding in much of Georgia, it’s worth revisiting the start of the pandemic in early 2020. Emory virologist Anne Piantadosi and colleagues have a paper in Viral Evolution on the earliest SARS-CoV-2 genetic sequences detected in Georgia. Analyzing relationships between those virus sequences and samples from other states and countries can give us an idea about where the first COVID-19 infections in Georgia came from. We can draw Read more
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preterm birth

Gestational age estimated via DNA methylation

Researchers have developed a method for estimating developmental maturity of newborns. It is based on tracking DNA methylation, a structural modification of DNA, whose patterns change as development progresses before birth.

The new method could help doctors assess developmental maturity in preterm newborns and make decisions about their care, or estimate the time since conception for a woman who does not receive prenatal care during pregnancy. As a research tool, the method could help scientists study connections between the prenatal environment and health in early childhood and adulthood.

How advanced is the development of a newborn, possibly preterm baby? Geneticists have developed a method for estimating gestational age by looking at DNA methylation.

The study, led by Alicia Smith, PhD and Karen Conneely, PhD, used blood samples from more than 1,200 newborns in 15 cohorts from around the world. The results are published in Genome Biology.

Smith is an associate professor and vice chair of research for the Department of Gynecology and Obstetrics in the School of Medicine, and Conneely is an assistant professor in the Department of Human Genetics. The first author, Anna Knight, is a graduate student in the Genetics and Molecular Biology Program.

Gestational age, is normally estimated by obstetricians using ultrasound during the first trimester, by asking a pregnant woman about her last menstrual period, or by examining the baby at birth. Ultrasound is considered to be the most precise estimate of gestational age. This work extends upon earlier studies of DNA methylation patterns that change over development and predict age and age-related health conditions in children and adults.

The Emory team gathered DNA methylation data from previous studies examining live births and health outcomes, and used an unbiased statistical learning approach to select 148 DNA methylation sites out of many thousands in the genome. By examining methylation at those sites, gestational age could be accurately estimated between 24 and 44 weeks, the authors report. The median difference between age determined by DNA methylation and age determined by an obstetrician estimate was approximately 1 week.

The researchers also found that the difference between a newborn’s age predicted by DNA methylation and by an obstetrician may be another indicator of developmental maturity, and is correlated with birthweight, commonly used as an indicator of perinatal health. Read more

Posted on October 11, 2016 by Quinn Eastman in Uncategorized Leave a comment

Microbiome enthusiasm at Emory

At what point did the human microbiome become such a hot topic?

When it was shown that babies born by Cesarean section are colonized with different bacteria than those born vaginally? With the cardiovascular studies of microbial byproducts of meat digestion? With the advent of fecal transplant as a proposed treatment for Clostricium difficile infection?

The bacteria and other microbes that live within the human body are thought to influence not only digestive health, but metabolic and autoimmune diseases as well, possibly even psychiatric and neurodevelopmental disorders. The field is being propelled by next-generation sequencing technology, and Nature had to publish an editorial guarding against hype (a major theme: correlation is not causation).

At Emory, investigators from several departments are involved in microbiome-related work, and the number is expanding, and assembling a comprehensive list is becoming more difficult. Researchers interested in the topic are planning Emory’s first microbiome symposium in November, organized by Jennifer Mulle (read her intriguing review on autism spectrum disorders and the microbiome).

Microbial genomics expert Tim Read, infectious diseases specialist Colleen Kraft and intestinal pathologist Andrew Neish have formed an Emory microbiome interest group with a listserv and seminars.

Microbiome symposium sponsors: ACTSI, Hercules Exposome Center, Emory University School of Medicine, Omega Biotek, CFDE, Ubiome. Read more

Posted on June 30, 2015 by Quinn Eastman in Immunology, Neuro Leave a comment

Preterm infants born at unspecialized hospitals face higher risk of death

Very low-birth-weight (VLBW) and very preterm (VPT) infants not born in highly specialized, level III hospitals have a higher risk of neonatal and pre-discharge death compared to similar infants born at level III hospitals, according to a recent Journal of the American Medical Association (JAMA) study.

Lead study author Sarah Lasswell, MPH, and colleagues at the Rollins School of Public Health conducted a large-scale analysis of previous research to examine the relationship between hospital level at birth and neonatal (generally the first four weeks after birth) or pre-discharge mortality for VLBW (weighing 53 ounces or less) and VPT (32 weeks or less gestation) infants to determine the importance of level of care at birth to survival.

Lasswell and colleagues found that VLBW infants born in non-level III hospitals had a 62 percent increase in odds of neonatal/pre-discharge death compared with VLBW infants born in level III hospitals. In addition, VPT infants born in lower-level hospitals had a 55 percent increase in odds of neonatal/pre-discharge mortality compared with those born in level III facilities.

“The results of this review confirm a primary premise on which perinatal regionalization systems are based: high-risk infants have higher mortality rates when born outside hospitals with the most specialized levels of care,” Lasswell and colleagues write.

“Strengthening perinatal regionalization systems in states with high percentages of VLBW and VPT infants born outside of level III centers could potentially save thousands of infant lives every year.”

About 13 million babies are born prematurely every year – nearly 10 percent of all newborns – and more than 1 million premature babies die each year, according to the March of Dimes.

The study, “Perinatal Regionalization for Very-Low-Birth-Weight and Very Preterm Infants: A Meta-Analysis,” was published in the Sept. 1, 2010, issue of JAMA. It was conducted as part of Lasswell’s graduate research at the Rollins School of Public Health under the direction of Roger Rochat, MD. Lasswell is now a researcher at the U.S. Centers for Disease Control.

Posted on September 15, 2010 by admin in Uncategorized Leave a comment