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

A new trend in medicine: redefining disease

Paul Wolpe, PhD

You may have already heard that last month Emory held its fifth annual predictive health symposium “Human Health: Molecules to Mankind.” Researchers, physicians, health care workers and members of the community from throughout the country met to learn about intriguing research and provocative commentary by health care experts.

One of those experts, Paul Wolpe, director of the Emory Center for Ethics, says health care has changed as more and more aspects of ordinary life or behaviors are being redefined as medical. For example, being drunk and disorderly has become alcoholism. Now, virtually all of life is being redefined in biological terms, he says. And that, says Wolpe, has led to an increase in health care costs. We have an enormous amount of new things that we are calling illness, and we expect our health care system to treat them, he says. “We are creating a new category of disease called pre-symptomatic.”

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Creating tools for next-generation sequencing

Emory biochemist Eric Ortlund participated in a study that was recently published in Proceedings of the National Academy of Sciences, which involves tinkering with billions of years of evolution by introducing mutations into DNA polymerase.

What may soon be old-fashioned: next-generation sequencing combines many reactions like the one depicted above into one pot

DNA polymerases, enzymes that replicate and repair DNA, assemble individual letters in the genetic code on a template. The PNAS paper describes efforts to modify Taq DNA polymerase to get it to accept “reversible terminators.” (Taq = Thermus aquaticus, a variety of bacteria that lives in hot springs and thus has heat-resistant enzymes, a useful property for DNA sequencing)

Ortlund was involved because he specializes in looking at how evolution shapes protein structure. Along with co-author Eric Gaucher, Ortlund is part of the Fundamental and Applied Molecular Evolution Center at Emory and the Georgia Institute of Technology.

To sequence DNA faster and more cheaply, scientists are trying to get DNA polymerases to accept new building blocks. This could facilitate next-generation sequencing technology that uses “reversible terminators” to sequence many DNA templates in parallel.

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Experts review global health care programs for answers

A recent Knowledge@Emory article looks at a new book titled The Healing of America: A Global Quest for Better, Cheaper, and Fairer Health Care, by author and journalist T.R. Reid. The book provides an in-depth look at the health care systems in a number of Western nations, including Germany, France, the U.K, Japan and Canada. The countries he profiles offer a mix of public and semi-public health care options.

In addition to interviewing Reid, experts from Emory Healthcare, Emory’s Woodruff Health Sciences Center and the Rollins School of Public Health Department of Health Policy and Management, weigh in on the problem of U.S. health care reform and what can be learned from the examples abroad.

Joseph Lipscomb, PhD

According to Joseph Lipscomb, PhD, a Georgia Cancer Coalition Distinguished Cancer Scholar and a professor in the Department of Health Policy and Management, quality of care, outcomes and cost analysis must be factored into the reform process. Looking abroad, Lipscomb gives generally high marks to the outcome and cost analysis done by the National Health Service and the National Institute for Health and Clinical Excellence (NICE) in the U.K. He applauds NICE’s ongoing efforts to estimate the cost-effectiveness of new, expensive technologies by using decision processes that are transparent and solicit input from private citizens, providers and industry.

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The importance of upbringing

Every time scientists identify genetic risk factors for a human disease or a personality trait, it seems like more weight accumulates on the “nature” side of the grand balance between nature and nurture.

That’s why it’s important to remember how much prenatal and childhood experiences such as education, nutrition, environmental exposures and stress influence later development.

At the Emory/Georgia Tech Predictive Health Symposium in December, biologist Victor Corces outlined this concept using a particularly evocative example: bees. A queen bee and a worker bee share the same DNA, so the only thing that determines whether an insect will become the next queen is whether she consumes royal jelly.

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Working for health around the globe

Emory faculty, staff and students travel the globe, providing care and establishing partnerships within other countries to address intractable health challenges like tobacco use, diabetes and AIDS.

What they do there helps both individuals and populations, now and for generations to come. What they learn from these experiences has indelible effect on their own lives and on the collective life of Emory as a whole.

Emory Healthcare working with MedShare

For example, working to support global from home in Atlanta, Emory Healthcare has works hard to reduce, reuse and recycle, including working with MedShare International, a nonprofit organization dedicated to improving the environment and health care through redistribution of surplus medical supplies and equipment to underserved health care facilities in more than 75 developing countries.

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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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Program helps South Georgia farmworkers

It’s not often that individuals think about the hard work responsible for the fruits and vegetables for our dinner tables every day. Somehow it magically appears in the produce department season after season, without fail. We don’t have to plant it, water it or pick it. It’s ready for us to take home and prepare.

We never see the thousands of migrant farmworkers who move from county to county during the peak season, providing the growers with the labor required to keep farms bountiful. These men, women and children – unlike the plants they take care of – have no roots and live from day to day wherever they are needed, and until their job is done, says Tom Himelick PA-C, MMSc, founder and director of the South Georgia Farmworker Health Project, and Emory Physician Assistant (PA) Program faculty member and director of community projects.

For most of these workers, having a family health care provider is unthinkable. The combination of poverty, lack of health insurance, language barriers, limited transportation and cultural differences creates a vacuum when it comes to health care.

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Coordinating care a key to health reform

Kenneth Thorpe, PhD

Last month, Emory held its fifth annual predictive health symposium “Human Health: Molecules to Mankind.”Researchers, physicians, health care workers and members of the community from throughout the country learned of intriguing research and listened to provocative commentary by health care experts. Kenneth Thorpe, chair of health policy and management at Emory’s Rollins School of Public Health, discussed the elements of health reform that may be getting lost in the reform process– redesigning the delivery system to prevent and avert the development of disease.

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Personal genomics: out of the bottle

Do you really want to know? That’s the question more and more people will be faced with, as personal genetic testing becomes more widespread.

Andrew Faucett discussed some of the emerging issues in “personal genomics” that will confront both doctors and patients at Emory’s Predictive Health Symposium in December. Faucett is an expert in the field of genetic testing and genetic counseling and an assistant professor in Emory’s Department of Human Genetics.

For example, does a man want to find out whether he is really the father of a baby? A recent New York Times magazine article explores this issue.

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Start the new year with eye care tips from experts

Emory Eye Center doctors Emily Graubart, MD, assistant professor of ophthalmology, and Paul Pruett, MD, assistant professor of ophthalmology, Emory School of Medicine, say people often have misinformation about their eyes. They answer questions below to dispel myths about eye disease and eye care. Start the new year with knowledge about your eyes:

Paul Pruett, MD

Paul Pruett, MD

How often does an adult need to see an eye doctor?
“It depends on your age,” says Pruett, an expert in glaucoma. “In your 20s, 30s and 40s, about every two years is sufficient. If you have certain medical conditions, it may be necessary to be seen more often. For example, patients with diabetes should have their eyes examined every year, at the least. Many eye diseases can be asymptomatic, and early detection can prevent vision loss. This is especially true for glaucoma. Half of all patients with glaucoma do not know they have the disease.”

Is my computer work damaging my eyes?
“No, however, staring at a computer screen means you may not blink often and your eyes may become dry,” says Graubart, a comprehensive ophthalmologist and cataract surgeon. “Blinking more frequently while working on the computer, as well as using preservative-free artificial tears will help to reduce the dry-eye symptoms associated with long-term computer use.”

Emily Graubart, MD

Emily Graubart, MD

Do certain foods or vitamins help the eyes?
“While there are a lot of claims regarding vitamins and eye health, there are only a few conditions where studies have proven a benefit,” says Pruett. “In age-related macular degeneration, for instance, there is a certain formulation of vitamins and minerals that has been proven to reduce the rate of vision loss in certain populations of these patients. Despite these medicines being over-the-counter, it is important to discuss with your doctor whether vitamin therapy is right for you as there may be potential interactions with other medicines or conditions. In general, a well-balanced diet with plenty of fruits and vegetables is the way to go, not only for eye health but also for your overall health.”

Why does reading get more difficult with age?
“We begin to lose our ability to focus up close, which is called presbyopia, between our late thirties and early forties,” says Graubart. “The natural lenses of our eyes become thicker and harder, and the muscles controlling the lens shape weaken making it more difficult to see up close. If you have not needed glasses before, you will likely do well with over-the-counter reading glasses. These glasses cannot damage your eyes. However, the American Academy of Ophthalmology recommends a comprehensive eye exam at age 40 to screen for diseases of the eye. At this visit, your ophthalmologist can tell you what prescription would work best for your eyes.”

Does reading in dim light or reading very small print damage your eyes?
“No. You may experience eye strain with both of these activities, but there will be no permanent damage to your eyes,” says Graubart. “More light helps to improve contrast and thus, allows you to read with greater ease.”

Are eye problems genetic?
“Not always,” says Pruett. “Although there is a higher risk for certain diseases, such as glaucoma that run in families, it does not mean you as a child will get every eye disease or disorder that your parents may have had. Problems that come purely with aging, such as cataracts, have no relation to parents. The important thing to remember is that if you have a family history of eye disease, you need to have thorough screenings at appropriate times in your life.”

Do eye exercises help vision?
“In children with certain convergence issues (crossed eyes), the exercises prescribed for them do help,” says Pruett. “However, in adults, eye exercises have shown no improvement in vision according to studies. Methods that promise to get rid of glasses by eye exercises are not viable.”

Does my toddler need an eye exam?
“Your child’s eyes are examined as a newborn by your pediatrician, and then again between ages six months and one year.“ says Graubart. “Your child’s vision should be tested by your pediatrician or an ophthalmologist at age three to three and one-half, earlier if your child can recognize images on the pediatric eye chart. If your child has a family history of eye disease, if you notice your child’s eye wandering, or if you have any concerns regarding their vision, they should be screened regularly and quickly referred to an ophthalmologist if there are any concerns.”

Learn more about the eye. Read about Emory Eye Center in Emory Eye magazine.

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