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

pediatrics

Study: ADHD linked to pesticide exposure

A study published in the May 17, 2010, issue of the journal Pediatrics found that one type of pesticide commonly used on fruits and vegetables may be contributing to attention deficit hyperactivity disorder, or ADHD, in children.

The study measured the levels of pesticide byproducts in the urine of 1,139 children from across the United States. Children with the highest concentration of pesticides in their urine were more likely to have symptoms of ADHD.

Dana Boyd Barr, PhD, a research professor in the Rollins School of Public Health at Emory, spent more than 20 years studying pesticide exposure at the Centers for Disease Control and Prevention (CDC). Barr was not a member of the research team that published these findings on pesticides and ADHD, but data generated in her former CDC lab was analyzed for this particular study.

Barr says while the study doesn’t prove causality between pesticide exposures and ADHD, it does shed light on how even low level daily exposures to pesticides could potentially impact cognitive health.

“It seems very plausible that low-level daily exposures to pesticides can produce some subtle effects like ADHD or other neurological delays,” she says.

Barr notes that additional research is needed to confirm a connection to pesticides and ADHD, but says there are tips for limiting your exposure to commonly used pesticides.

“We’ve done studies here at Emory and also at CDC that have indicated that if you use organic food or if you wash your food properly prior to preparation, you can reduce the levels of these metabolites in your urine.  Eat as much organic produce as possible, or wash your fruits and vegetables very well and that likely could decrease the chances of your children developing ADHD,” says Barr.

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Coping with seasonal allergies

Are you one of 50 million Americans who suffer from allergies? Allergies are the fifth-leading chronic disease in the U.S. among all ages, and the third most common chronic disease among children under age 18, according to the Asthma and Allergy Foundation of America.

Allergy is characterized by an overreaction of the human immune system to a foreign protein substance that is eaten, breathed into the lungs, injected or touched. This immune overreaction can result in symptoms such as coughing, sneezing, itchy eyes, runny nose and scratchy throat. In severe cases it can also result in rashes, hives, lower blood pressure, difficulty breathing, asthma attacks, and even death.

In a series of new videos, Emory University pediatric allergist and immunologist Karen DeMuth, MD, discusses seasonal allergies, allergy triggers, coping methods, treatments, common allergy relief and common allergy myths.

In another video series, DeMuth explores the link between asthma and allergies and the impact of air pollution on people with asthma.

DeMuth is an assistant professor of pediatrics in the Emory School of Medicine. She practices at the Emory-Children’s Center and Children’s Healthcare of Atlanta.

Hear Dr. DeMuth talk more about allergies and the link between asthma and allergies.

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Micronutrients: food for thought

Conrad Cole, MD, MPH

Physicians and researchers are seeing a resurgence of micronutrient deficiencies in certain high-risk populations of children. But what exactly does that mean to those children—right now and in the future?

For children who don’t get enough micronutrients it means life-long problems, including decreased neurodevelopment and diminished cognitive abilities.

“Micronutrients are nutrients that are needed by the body in small quantities and are important for development, growth and sustaining life,” says Conrad Cole, MD, MPH, assistant professor of pediatrics in the Division of Pediatric Gastroenterology and Nutrition in Emory School of Medicine. “That’s why they’re called micronutrients, and the ones we commonly think about are iron, vitamin D, calcium and zinc because they all have significant importance.”

To listen to Cole’s own words about micronutrients, access Emory’s new Sound Science podcast.

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Looking at quality of life in visually impaired children

Vision loss can affect ones daily function and quality of life (QOL), but few research studies have actually looked at the impact of visual impairments on childrens quality of life.

An Emory project aims to develop an instrument that will measure the effect of vision loss on the quality of life of children age 8 to 18.

Pictured from left to right: J. Devn Cornish, MD, professor and vice chair, Department of Pediatrics, Emory University School of Medicine; Andy Lovas, grand recorder, Knights Templar Eye Foundation; Sheila Angeles-Han, MD, MSc, assistant professor, Pediatric Rheumatology and Immunology, Emory University School of Medicine; Larry Vogler, MD, division chief, Pediatric Rheumatology and Immunology, Emory University School of Medicine; and Tim Taylor, director of marketing, Knights Templar Eye Foundation

The project is being led by Emory pediatric rheumatologist Sheila Angeles-Han, MD, MSc. Han recently received a $40,000 grant from the Knights Templar Eye Foundation to augment her work in this area. She is collaborating with pediatric ophthalmologists at the Emory Eye Center.

Currently, there are no validated questionnaires or tools to determine how children in these age groups cope with their visual impairments and the impact of vision loss on their daily lives. This knowledge can enhance physicians understanding of diseases that affect vision.

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Tailoring transplant drugs for children

For adult organ transplant recipients, juggling a lifetime regimen of immunosuppressant drugs is difficult enough, but for children it presents an even greater challenge.  These drugs, which also can have toxic side effects, must strike a delicate balance between preventing organ rejection and protecting from infections.

But children’s immune systems are still “learning” what distinguishes them from the world around them, and children are constantly developing and changing, both physically and emotionally. This puts them at greater risk for complications either through inappropriate medication or failure to take these drugs properly.

A grant from the National Institute of Allergy and Infectious Diseases (NIAID), through the American Recovery and Reinvestment Act (ARRA), will support new studies at Emory University and Children’s Healthcare of Atlanta to help clinicians tailor therapies specifically for children receiving transplants.  The project will include hiring of additional personnel to undertake these studies.

Allan D. Kirk, MD, PhD, is principal investigator of the project, which is supported by a two-year grant of nearly $1.65 million. Kirk is professor of surgery and pediatrics in Emory University School of Medicine and a Georgia Research Alliance Eminent Scholar. He also is vice chair of research in the Department of Surgery and scientific director of the Emory Transplant Center.

The ARRA-funded project will not only help determine which medications children should take, but also will give them the support to care for their transplanted organs.  The Emory scientists are studying new biological monitoring technologies that can identify unique ways to determine exactly how much medication a child really needs. These studies are being combined with a novel transition care clinic specializing in helping children cope with their illness and assuming responsibility for their care.

“This award indicates exceptional insight by the NIAID into the critical link between a child’s physical well-being and their emotional maturity,” says Kirk. “It will accelerate progress in this vital area of research for a very deserving subset of chronically ill children.”

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Children’s Healthcare invests in eight research centers

Paul Spearman, MD

Children’s Healthcare of Atlanta will invest $75 million in pediatric research centers of excellence over the next five years. Paul Spearman, MD, Children’s chief research officer and vice chair for research in Emory’s Department of Pediatrics, announced eight key priority areas today.

These include the Aflac Cancer Center and Blood Disorders Service of Children’s, along with seven new priority areas: immunology and vaccines, transplant immunology and immune therapeutics, pediatric healthcare technology innovation, cystic fibrosis, developmental lung biology, endothelial cell biology and cardiovascular biology. Planned priority areas for the near future include drug discovery, neurosciences, autism, outcomes/wellness, and clinical and translational research.

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Study looks for treatment for pediatric heart disease

There have been tremendous advances in cardiac surgery over the years. Physicians can now operate on children with heart defects in the first month or week of their lives. But very little is known about how the human heart develops especially in that first year after birth.

Emory and Children’s Healthcare of Atlanta researcher Mary Wagner, PhD, is leading a project looking at how the heart develops during the first year of life. This is critical, she says, because children’s hearts respond differently to medications and surgery than adults’ hearts, and many treatments currently available to pediatric heart patients were designed and tailored specifically for the adult heart.

Wagner, associate professor in Emory’s School of Medicine, and her research team will examine the physiological properties of human heart tissue from pediatric patients. The samples are tissue that needs to be removed as part of the surgical repair of the patient’s heart and would otherwise be discarded.

The ultimate goal of Wagner’s research is to examine the differences in the human heart in the first year after birth and identify novel target therapies for the pediatric cardiac patient.

Wagner’s research labs are housed at The Emory-Children’s Center, a joint venture between Emory Healthcare and Children’s Healthcare of Atlanta.

Her research is funded by a stimulus grant from the National Heart, Lung, and Blood Institute of the National Institutes of Health.

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Inflammatory bowel disease gene regions identified

In the largest, most comprehensive genetic analysis of childhood-onset inflammatory bowel disease (IBD), Emory and Children’s Healthcare of Atlanta gastroenterologist Subra Kugathasan, MD, and colleagues identified five new gene regions, including one involved in a biological pathway that helps drive the painful inflammation of the digestive tract that characterizes the disease.

Subra Kugathasan, MD

Subra Kugathasan, MD

IBD is a painful, chronic inflammation of the gastrointestinal tract, affecting about 2 million children and adults in the United States. Of that number, about half suffer from Crohn’s disease, which can affect any part of the GI tract, and half have ulcerative colitis, which is limited to the large intestine.

Most gene analyses of IBD have focused on adult-onset disease, but this study concentrated on childhood-onset IBD, which tends to be more severe than adult-onset disease.

Kugathasan and a team of international researchers performed a genome-wide association study on DNA from over 3,400 children and adolescents with IBD, plus nearly 12,000 genetically matched control subjects, all recruited through international collaborations in North America and Europe.

In a genome-wide association study, automated genotyping tools scan the entire human genome seeking gene variants that contribute to disease risk.

The study team identified five new gene regions that raise the risk of early-onset IBD, on chromosomes 16, 22, 10, 2 and 19. The most significant finding was at chromosome locus 16p11, which contains the IL27 gene that carries the code for a cytokine, or signaling protein, also called IL27.

Kugathasan says one strength of the current study, in addition to its large sample size, is the collaboration of many leading pediatric IBD research programs, which included Emory, The Children’s Hospital of Philadelphia, the Hospital for Sick Children of the University of Toronto; the University of Edinburgh, UK; Cedars Sinai Medical Center, Los Angeles; and the IRCCS-CSS Hospital, S. Giovanni Rotondo, Italy.

The study, “Common variants at five new loci associated with early-onset inflammatory bowel disease,” was published in the November 2009 online issue of Nature Genetics.

Learn more about Kugathasan’s work at Emory.

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$30M grant to Children’s Healthcare supports Emory partnership

Pediatric researchThe Joseph B. Whitehead Foundation has given $30 million to Children’s Healthcare of Atlanta to support pediatric research. The grant includes $25 million to help fund a new research building located on the Emory campus, and $5 million to support the Marcus Autism Center.

The grant will allow Children’s and Emory to expand their research partnership, attract top scientists, and advance research discoveries that will improve the health of children.

Some of the pediatric research conducted in a new building to be built on the Emory campus will focus on cardiology, cancer, vaccines, and new drug discovery. The grant has implications for the city of Atlanta as a growing research community, building on collaborations among Children’s Healthcare, Emory, Georgia Institute of Technology, Morehouse School of Medicine, and others.

Fred Sanfilippo, MD, PhD, executive vice president for health affairs at Emory, and Donna W. Hyland, president and CEO of Children’s Healthcare of Atlanta, explained that the new grant, which is the largest single gift ever to Children’s, will have an enormous impact on the two institutions, building on the strong partnership between Emory and Children’s and leading them to become a major pediatric research hub in the Southeast and the nation. Most importantly, it will help in finding cures for some of the most common and devastating childhood diseases.

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Children’s 1,000th pediatric transplant recognized

Emory University and Children’s Healthcare of Atlanta transplant surgeon Stuart Knechtle, MD, and his surgical team recently performed the 1,000th solid organ transplant on a Children’s patient. The milestone operation was performed on a child who received a liver through the Children’s Transplant Center.

Stuart Knechtle, MD

Stuart Knechtle, MD

Knechtle is chief of the Emory School of Medicine transplant division and professor of surgery, and surgical director of Children’s Liver Transplant Program. Children’s Liver Transplant program was founded in 1990 and has completed more than 300 liver transplants.

The liver transplant team is made up of many individuals who contribute to its success – liver transplant surgeons, transplant hepatologists (doctors with expertise in the treatment of the liver), and a team of gastroenterologists, anesthesiologists, pathologists, radiologists, mental health specialists, chaplains, nurses, social workers and pharmacists.

For more than 20 years, Emory and Children’s physicians have been at the forefront of pediatric transplant care, achieving several groundbreaking accomplishments, including:

  • Transplanted the world’s youngest (10 days old) and three smallest (2 to 4 pounds) liver transplant recipients
  • One of the first pediatric hospitals in the United States to perform three heart transplants in 24 hours
  • At the forefront of its field with ABO-incompatible liver and heart transplants
  • Performed more than 450 pediatric kidney transplants.
Children's kidney transplant recipient Quinn Roberts, age 8, poses with her donor Cheryl Thomas

Children’s kidney transplant recipient Quinn Roberts, age 8, with her donor Cheryl Thomas

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