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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Emory-Children’s Center

Dissecting a pediatric autoimmune disease

When a child is just learning to play sports, swim or even simply get dressed on her own, it can be heartbreaking to see that she is already being affected by symptoms of arthritis: swelling, limping, and/or restricted range of motion.

At the recent research retreat held by the Emory–Children’s Pediatric Research Center, rheumatologist Sampath Prahalad described his efforts to define the genetics and contributing factors for juvenile idiopathic arthritis (JIA).

Sampath Prahalad, MD

A challenge in this area is determining what makes juvenile idiopathic arthritis both different from other autoimmune diseases such as lupus or type I diabetes and what makes the disease appear early in life, decades before adult-onset rheumatoid arthritis usually appears.

Determining genetic and other risk factors for the disease can help increase understanding of the mechanisms of disease, leading to better treatments, and knowing how the cheap oakley disease develops can improve diagnosis. On this second point, we asked Prahalad two questions about his work:

What proportion of patients come to you because there is a suspected genetic connection?

Most come because of symptoms of rheumatic disease. I would estimate about 20 percent of our referrals come because of a mild symptom or abnormal lab test plus a family cheap oakley sunglasses history of autoimmunity, which prompts the PCP to seek a rheumatology evaluation. Less than 2 percent come purely for a family history of autoimmunity where they are concerned the child also has it.

Under what circumstances would a doctor seek to determine a genetic risk score for a child?

We know that twins, siblings and children of individuals with an autoimmune disease have a higher risk of the condition. So a genetic risk score could help identify those at risk for closer follow up or further evaluation. Conceivably in a child with symptoms suspicious for an autoimmune disease but not definitive, a genetic risk score could help increase the probability of being able to diagnose a specific condition.

Prahalad and colleagues published a paper in the June issue of Arthritis & Rheumatism investigating the applicability of a genetic risk score for JIA involving variations in four genes. In their study looking at 155 children with JIA and 684 controls, individuals with a risk score in the top fifth have odds of childhood-onset disease 12 times of those in the bottom fifth.

A key passage from the discussion of the Arthritis & Rheumatism paper indicates that genetic factors specific for childhood onset remain to be found.

Studying children has the advantage of focusing more on the influence of genetic factors compared to the influence of environmental factors, such as smoking. Notably, the magnitude and direction of the association between childhood-onset RA [rheumatoid arthritis] and TNFAIP3, STAT4, and PTPN22 variants were similar to those observed in RA. The observation that the selected variants did not have an elevated OR in childhood-onset RA as compared to RA suggests that there are other variants still to be investigated that may influence the risk of childhood-onset RA.

Prahalad says he wants to find out whether genetic http://www.gooakley.com/ factors contributing to childhood onset are simply cumulatively more intense, and thus drive the appearance of the disease earlier, or whether they are active in a childhood-specific context.

Notably, many of the genetic risk factors identified so far are shared with other autoimmune diseases. A recent Nature Genetics paper, which Prahalad contributed to, used a customized “Immunochip” to find several new risk factors for JIA.

Non-genetic risk factors: At the retreat, Mina Rohani Pichavant, a researcher working with Prahalad, had a poster discussing her preliminary data on the types of microorganisms found in the intestines of JIA patients. Previous studies in adults with rheumatoid arthritis have shown a link between intestinal bugs and disease risk, but this area of research is new for JIA. There are also connections between gum disease and JIA.

Posted on July 5, 2013 by Quinn Eastman in Immunology Leave a comment

Children with Food Allergies Offered Better Diagnosis and Treatment with New Guidelines

Twenty years ago, food allergies had barely been heard of. Now, they are a $500 million health problem that affects more than 12 million Americans, including three million children. New federal guidelines issued by the National Institute of Allergy and Infectious Diseases (NIAID) will help physicians better diagnose and treat food allergies, according to Karen Demuth, MD, an assistant professor of pediatrics in the Emory University School of Medicine, and a physician on staff at Children’s Healthcare of Atlanta.

Dr. Demuth was a key player in advancing legislation to call attention to the challenges of food allergies in children. She and several of her patients were on hand to witness Governor Nathan Deal signing a proclamation declaring May 8 to 14 Food Allergy Awareness Week in Georgia.

Dr. Demuth (pictured far right) was a key player in advancing legislation to call attention to the challenges of food allergies in children. She and several of her patients were on hand to witness Governor Nathan Deal signing a proclamation declaring May 8 to 14 Food Allergy Awareness Week in Georgia.

“The new NIAID guidelines help providers understand food allergies,” Demuth says. “They address when we should consider a food allergy and the utility of testing for food allergy. In addition, they address the management of food allergies, including acute reactions and follow-up of individuals with food allergy.”

The guidelines are comprised of input from a panel of 25 experts and draw the important distinction between food allergies and food intolerances. Food allergies are defined as “an adverse health effect arising from a specific immune response hat occurs reproducibly on exposure to a given food.” Food intolerances produce an adverse reaction but are likely not related to an immune response.

The most common food allergies are to milk, eggs, peanuts, tree nuts, shellfish, fish and soy. Fortunately, the understanding of food allergies and the best ways to manage them is expanding.

“The gold standard of treatment of food allergies – avoidance – has remained constant throughout the years,” Demuth says. “There are new therapies on the horizon such as oral immunotherapy, vaccines and a Chinese herbal extract; however, these therapies are still considered experimental. At the Emory-Children’s Center, we are active in research and advocacy in pediatric allergies so that we can bring new treatments to our patients when they are ready for widespread use. We are dedicated solely to the care of children with allergic and immunologic disorders and offer multidisciplinary clinics to offer a specialized level of care.”

Video

Posted on May 10, 2011 by admin in Uncategorized Leave a comment

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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Posted on March 18, 2010 by admin in Uncategorized Leave a comment

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.

Posted on December 28, 2009 by admin in Heart Leave a comment