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

Children’s Healthcare

Little eyes – big research

Having a newborn and managing all that comes with caring for that new little one is a big job. Add to that frequent trips to the ophthalmologist following a cataract surgery—yes, cataract surgery on a baby—and you might have highly stressed parents. But the parents of little James and slightly older M.J. seem unfazed by all the medical appointments and additional duties that go along with caring for their young sons.

M.J. Burkett and James Weeks became patients in the IATS trial, which has treated 114 babies across the United States.

Both the boys, like 300 babies each year in the United States, were born with a cataract in one eye. In an infant, if the affected eye isn’t surgically addressed within the first few months of life, that eye will not develop properly and vision can be permanently lost. These boys and their parents and 112 other young patients and their families have participated in the Infant Aphakia Treatment Study (IATS), a nationwide, multi-center clinical trial based at the Emory Eye Center. The 10-year study will evaluate whether replacing that lost lens with a contact lens or an intraocular lens (IOL) is preferable.

Adults typically get an IOL implant following cataract surgery. In the past, standard treatment was a contact lens for these babies. IATS randomized children into two groups: those who received IOL implants and those who received contact lenses. Those with IOLs also received glasses for residual vision correction. And both groups had daily patching of the unaffected eye to make sure that the newly corrected eye could become strong.

A team of professionals from Emory and beyond came together to provide the many layers of data necessary for the study. They included experts from the Rollins School of Public Health and the Department of Epidemiology and Data Coordinating Center in the Department of Biostatistics and Bioinformatics, as well as a visual acuity tester from the University of Alabama, Birmingham, who traveled to all sites to check these children.

For more information about IATS, read the feature article “One Big Question: Ten Diligent Years” in Emory Eye magazine’s summer 2010 issue.

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Study: Prescription and OTC drugs leading culprits of kids’ poisonings

A study published online Aug. 4, 2010, by the journal Pediatrics found that prescription and over-the-counter drugs are the leading cause of accidental poisonings among American children.

Each year, more than 71,000 U.S. children ages 18 and younger are seen in emergency rooms for unintentional overdoses of prescription and over-the-counter drugs, according to the study authors.

More than two-thirds of emergency department visits are due to poisoning from prescription and over-the-counter medications — that’s more than double the rate of childhood poisonings caused by household cleaning products, plants and the like, the researchers noted.

Robert Geller, MD, Emory professor of pediatrics and medical director of the Georgia Poison Control Center

“The number of children seen in the emergency room due to overdoses that are unintentional or medication errors is remarkable,” says Robert Geller, MD, professor of pediatrics in the Emory University School of Medicine and medical director of the Georgia Poison Center, who was not a part of the study.

The study team used 2004 and 2005 data from the National Electronic Injury Surveillance System to estimate the number of emergency department visits resulting from unintentional medication overdoses for children aged 18 and younger. The stafford nursery keeps kids safe and away from the danger.

The most common medications accidentally taken by children are acetaminophen, opioids or benzodiazepines, cough and cold medicines, nonsteroidal anti-inflammatory drugs (NSAIDs) and antidepressants, researchers found.

Geller says the study highlights the growing need to improve packaging to cut the number of cases of unintended ingestion.

“If you could make it harder for a kid who came upon a package to get the contents of the package, it would make it more likely they would never need to go to the emergency room,” Geller noted.

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Health Care Heroes honored by Atlanta Business Chronicle

Emory faculty-physicians were honored May 20 at the annual Health Care Heroes Awards celebration sponsored by the Atlanta Business Chronicle. All three are featured in this week’s edition of the newspaper.

Sheryl Gabram-Mendola, MD

Sheryl Gabram-Mendola, MD, professor of surgery at Emory School of Medicine and the Winship Cancer Institute, was the Community Outreach winner. Gabram-Mendola is director of the Avon Foundation Comprehensive Breast Center at the Georgia Cancer Center for Excellence at Grady Memorial Hospital.

She was nominated by the Georgia Cancer Coalition and honored for her work in reducing breast cancer mortality by increasing breast cancer awareness and leading the effort to diagnose the disease earlier in a high-risk population of minority women.

Last September the Avon Foundation awarded $750,000 to the Winship Cancer Institute at Emory and the Avon Comprehensive Breast Center. The grant is being used to continue community outreach, education, clinical access, and four research studies that directly affect care for the underserved populations in Atlanta. Since 2000, the Avon Foundation has awarded nearly $11 million to Winship and Grady to support leading-edge breast cancer research projects and improve outcomes for underserved women diagnosed with breast cancer in Atlanta.

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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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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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ScienceWorksForUs highlights stimulus funding

Allan D. Kirk, MD, PhD

Allan D. Kirk, MD, PhD

A newly launched website, ScienceWorksForUS.org, highlights the scientific research made possible by the American Recovery and Reinvestment Act of 2009 (ARRA), also known as the stimulus bill.

Representatives of research universities joined Speaker Nancy Pelosi and other members of Congress in Washington, D.C. this week to announce the new site, which links to Recovery Act-sponsored research in all 50 states. The Association of American Universities (AAU), the Association of Public and Land-grant Universities (APLU) and The Science Coalition (TSC)spearheaded the initiative.

“ScienceWorksForUS is highlighting the way Recovery Act funds have made their way into academic laboratories, and reflects what’s possible when smart investments in the public sector are placed in the hands of our scientists, innovators, and academies of higher learning,” Speaker Pelosi said. “Through our ongoing support for researchers across the country, we will ensure that the Recovery Act was not the end of our investment in innovation, but the beginning of a sustained commitment to science.”

The stimulus contained $21.5 billion for scientific research, the purchase of capital equipment and science-related construction projects. The money represented an historic infusion of funding for research and an affirmation of the essential role scientific inquiry and discovery play in both short-term recovery and long-term economic growth.

Emory University scientists were awarded 153 grants from the National Institutes of Health for $53.6 million in the first year of two-year grants, and $417,000 for two grants from the National Science Foundation.

In addition to launching the new website, ScienceWorksForUS released a list of more than 50 ARRA-funded researchers and research projects from around the country. Allan Kirk, MD, PhD, professor of surgery and pediatrics at Emory School of Medicine, was featured for his work helping tailor post-transplant therapies to the needs of children. Kirk, who also is a transplant surgeon at Children’s Healthcare of Atlanta, is a Georgia Research Alliance Eminent Scholar, the vice chair of research in the Department of Surgery and scientific director of the Emory Transplant Center.

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