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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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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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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Families reunite at Emory for annual “preemie” party

They are the hospital’s tiniest patients, and many must overcome the odds of prematurity and severe illness to survive. These premature babies, often called “preemies,” are cared for by the physicians and staff in the Special Care Nurseries at Emory University Hospital Midtown (EUHM).

The state-of-the-art nursery, designated a Level III nursery, provides the widest variety of advanced care available for premature and sick newborns. The neonatologists and nursery staff are all highly skilled in caring for these little babies and their many needs after birth. They also must teach the parents to care for their little ones when they go home.

Baby in the NICU

Baby in the NICU

Some of the infants are there for just a week or two. Others are there for months. And during their stay, special bonds are formed and many precious milestones are shared between the families and their caretakers.

Each December, doctors, nurses and staff in the Special Care Nurseries come together with the “preemie graduates” and their families to celebrate life and renew acquaintances at the hospital’s annual “Preemie Party.” The Special Care Nurseries held its 27th annual Preemie Party with more than 100 families in attendance.

It’s a time for grateful family members to once again thank those who cared for their babies when they were so fragile and sick. And it’s a time for the hospital staff to see how the little ones are growing – many now toddlers, school-aged children, teenagers and some even in their 20s return.

Ann Critz, MD, chief of Pediatrics and medical director of Nurseries at EUHM, says, “This annual party gives us the opportunity to visit with ‘our babies’ and their families again to see the progress they’ve made since leaving the hospital. It’s wonderful to see these children developing and thriving now, when they were once so small and medically fragile. This gathering is a very sentimental time for me each year.”

Critz, who is an associate professor of pediatrics, Emory School of Medicine, has cared for hundreds of preemies during her 29-year tenure at Emory University Hospital Midtown.

Susan Horner, RN, nurse in the Special Care Nurseries and Preemie Party coordinator, says, “It’s a joy to reconnect with the little ones and their family members who spent so many hours in our nurseries nurturing their preemies before taking them home.”

All babies born at the hospital, including preemies, experience a concept called “family-centered care,” which encourages parents to assist in caring for, rocking, holding and feeding their babies daily. Despite all of the tubes and monitors needed for the preemies, this family-centered care is vital.

Critz notes that the technique is extremely important in the neonatal intensive care unit, called the NICU. Bonding with even the smallest infants in the early stages is critical for the baby’s development. She and her colleagues have found the more parents are involved with the care of their preemies, the better the babies thrive.

EUHM has been a leader in neonatal care for as far back as the 1940’s. The hospital’s NICU opened in 1981 and currently serves as part of the Emory Regional Perinatal Center, one of six regional perinatal centers in the state to care for high-risk infants. Learn more about the maternity center at EUHM.

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Medical imaging experts on quality and safety

Recently, a great deal of media coverage has focused on radiological services such as CT scans, and questions have been raised over the safety related to the increasing use of those services and the amount of radiation they deliver.

Medical imaging procedures, such as CT or CAT scans, are considered by experts to be highly useful for the diagnosis, treatment and monitoring of many medical conditions including cancer, heart disease, trauma, and liver and kidney disease. The recent increase in attention and exposure via the media is valuable, say Emory experts, in highlighting rapidly improving imaging technologies and the importance of ensuring such scans are performed in a setting where there is carefully monitoring to minimize associated radiation exposure.

CT scanner

CT scanner

Emory’s Department of Radiology is well-recognized for its expertise in all subspecialty areas of radiology and medical imaging, as well as its breadth and depth of medical physicists, researchers and educators.

Carolyn Meltzer, MD, William P. Timmie Professor and chair of the Department of Radiology in Emory’s School of Medicine, says, “Emory radiologists are the physician experts in imaging, most receiving more than 13 years of extensive training. In fact, radiologists receive substantive training in radiation biology and safety that is linked to their board certification.”

According to Kimberly Applegate, MD, vice chair of Quality and Safety for Emory’s Department of Radiology, commented on safety recently in the New England Journal of Medicine. She wrote in the article, “The medical community should continue to work together across disciplines to use existing knowledge about radiation protection to ensure that imaging is warranted and optimized.”

When patients do need imaging, they should ask if the imaging personnel are credentialed and the protocols used are weight-based and indication-based, to ensure quality, notes Applegate. Emory subspecialty radiologists work in multidisciplinary clinical teams to make sure that imaging is used appropriately, she adds.

In order to minimize radiation exposure, Emory Radiology adheres to the following guidelines: CT protocols are optimized by subspecialty-trained radiologists to ensure quality and safe imaging procedures. Further, explains Applegate, low radiation exam protocols are used when appropriate and CTs or X-rays are not performed on pregnant patients unless it is a medical emergency.

Further, in accordance with ACR (American College of Radiology) guidelines, Emory Radiology does not offer whole body screening CT exams. These tests result in unnecessary radiation and often lead to additional unneeded tests, says Applegate.

Click here for more information about radiation safety and what Emory is doing to educate all stakeholders in medical imaging and to ensure safe, high quality imaging. To learn more about medical imaging and expected radiation levels visit RadiologyInfo.

For a summary of the National Council on Radiation Protection and Measurements (NCRP) report on American radiation exposure from all sources, including medical imaging, visit The NCRP report 160: Ionizing Radiation Exposure of the Population of the United States (2009).

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From the Predictive Health Symposium

Predictive Health logoEmory and Georgia Tech kicked off their fifth annual predictive health symposium, “Human Health: Molecules to Mankind,” Dec. 14-15. Researchers, physicians, health care workers, and interested community members were treated to some intriguing and provocative findings and commentary.

Emory President James Wagner and Georgia Tech President Bud Peterson introduced the symposium, along with Fred Sanfilippo, MD, PhD, CEO of Emory’s Woodruff Health Sciences Center. Sanfilippo emphasized that predictive-personalized health is one of the most innovative and promising solutions to our current health care crisis. Medicine today stands at the brink of an achievable goal to tackle the most serious issues facing the health of humans – the ability to predict, reduce, and in many cases eliminate the specific illnesses we each face.

To achieve this goal, he said, we must understand why each of us has a different risk and response to diseases and their treatment, based on our unique differences in biology, behavior and environment. And then we have to use that knowledge to determine the right treatment at the right time for each individual.

Keynote speaker Penny Pilgram George, president of the George Family Foundation and co-founder of the the Bravewell Collaborative, said, “We currently have a disease management system based on episodic care, which means we treat symptoms instead of problems…True healing can only begin when we correctly diagnose the problem and treat the root cause.”

We know we could prevent half of chronic illness, said George by simply teaching people to eat nutritionally, adopt health habits such as nonsmoking, build positive relationships, live and work in nontoxic environments, practice stress reduction, stay fit through some form of exercise, and be purposely engaged in life. If we only treat disease after it occurs and do not promote health, we will have missed the whole point. We need to create a culture of health and well being.

And this from W. Andrew Faucett, director of the genomics and public health program at Emory, who cautioned that although many personalized genetic tests are now available through numerous sources, individuals and clinicians have to weigh the benefits, risks, and usefulness of this evolving technology. People may not even want to know some things revealed by genetic testing, and not everything revealed may be clinically useful or related to disease risk. For example, matters such as one’s true ancestry or revelations concerning one’s paternity may unexpectedly come to light. Furthermore, the accuracy of personalized genetic testing should be carefully considered. Also, a negative result is never truly negative, because there are so many factors involved and some of them can change.

Faucett also spoke about the differences between relative risk and absolute risk. “Anytime you’re talking about genetic risk for disease, you have to present risk in multiple ways,” Faucett said.

Kenneth Thorpe, chair of health policy and management at Emory, talked about 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. Thorpe focused on Medicare because he says, it’s “the most acute offender of the system.” That is, it encompasses some of the most difficult problems that health care reform faces. The typical Medicare patient, he said, is an overweight hypertensive diabetic with back problems, high cholesterol, asthma, arthritis, and pulmonary disease. And that typical patient sees two different primary physicians, a multitude of specialists, and fills 30 different medications. Yet, Medicare does nothing to coordinate the patient’s care. As a result, preventable admissions and readmissions rates are “off the charts,” he says. But, data show that coordination could cut those rates in half.

Because today’s patients have chronic health care conditions that require medical management, said Thorpe, the hope is to develop a preventive and personalized health plan that identifies problems before they manifest and employs care coordinators to guide patients while they’re at home.

And 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 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 this health care system to treat them, he says. “We are creating a new category of disease called presymptomatic.”

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Providing complex care for individuals in need

Emory Healthcare physicians provided $48.9 million in charity care in fiscal year 2008-2009, a total that does not include uncompensated care provided by Emory physicians practicing at publicly funded Grady Memorial Hospital and other affiliate institutions.

Charity care includes two types of care. Indigent care refers to care provided to patients with no health insurance, not even Medicare or Medicaid. Catastrophic care refers to care provided to patients who have some coverage but whose medical bills are so large that paying them would be permanently life-shattering. People without the ability to pay for care are not faceless statistics to Emory clinicians but patients in need of care. For this, the Florida health insurance marketplace offers options to help prevent such financial crises by providing affordable coverage and access to essential medical services.

In fact, Emory’s Wesley Woods Center exemplifies Emory Healthcare’s commitment to serving patients and their families who are facing issues related to aging. The majority of the 30,000 patients treated last year at Wesley Woods’ 100-bed hospital and outpatient clinic were elderly, in their 70s, 80s, 90s and older. If you have a loved one in a senior living facility that you suspect is being abused, you should consider contacting a New York City nursing home abuse law firm.

But Wesley Woods also is a life-saver for many younger patients who require chronic care and specialty services for which the center is known, including wound care, rehabilitation and respiratory care, such as weaning from ventilator therapy.

Patient receives care at Wesley Woods

Patient receives care at Wesley Woods

For example, patient Sherry Smith’s CT scan at Emory University Hospital showed large blood clots blocking the vessels leading to her spleen and kidneys. Over the next two weeks, she had four operations. Surgeons removed the clots and her spleen and cut out portions of her bowel that had been destroyed by lack of oxygenated blood. She required a feeding tube and a tracheotomy to help with breathing as she recovered.

Patients can move seamlessly between the two Emory Healthcare facilities for needed care. Smith moved back and forth between Emory and Wesley Woods as she improved. She also got some unexpected help in paying for her care. When she got sick, Smith lost her job. During the six months she spent moving between the two hospitals, her bill at Wesley Woods was more than $120,000, and that at Emory University Hospital, almost $130,000.

Community Benefits Report

Community Benefits Report

To her relief, Emory offered to pay her COBRA insurance fees to help her maintain her insurance for the time allowed. Payments would cover only part of the actual cost of care. Wesley Woods social workers also helped Smith apply for Medicaid to cover health care costs while she continues her recovery in a rehab facility closer to her home.

Read more about charity care at Emory in the Community Benefits Report 2009.

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Research match eases clinical trials participation

Research Match LogoIf you’d like to consider joining a clinical trial, a new secure website will make it easier. ResearchMatch.org will match any interested person living in the U.S. with researchers who are approved to recruit potential study volunteers.

Emory is one of 51 institutions participating in this first national, secure, volunteer recruitment registry. After registering at the website, potential volunteers can check out available trials. If a person indicates interest in a study, they are notified electronically about a possible match. Then they can decide whether to provide their contact information to a researcher.

The new website is sponsored by the National Center for Research Resources (NCRR) of the National Institutes of Health (NIH). ResearchMatch is the product of the NCRR’s Clinical and Translational Science Awards (CTSA) Consortium. The CTSA is a national network of 46 medical research institutions working together to improve the way biomedical research is conducted across the country.

Emory leads the Atlanta Clinical and Translational Science Institute (ACTSI), a CTSA partnership including Morehouse School of Medicine, the Georgia Institute of Technology and Children’s Healthcare of Atlanta.

ResearchMatch.org is a wonderful opportunity for those interested in participating in clinical research, says Arlene Chapman, MD, Emory professor of medicine and director of the ACTSI Clinical Interaction Network Program. It’s available to young and old, healthy or ill. And people with a rare disease can find out more about available research studies throughout the country.

The registry strictly protects anonymity. It also increases the chance to participate in local studies and saves much of the time typically spent finding out about eligibility for a particular study.

ResearchMatch is available at: www.researchmatch.org/route=emory

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Sanjay Gupta shares stories on near-death experiences

Yesterday, Sanjay Gupta, MD, assistant professor of neurosurgery at Emory School of Medicine and associate chief of neurosurgery service at Grady Memorial Hospital, joined Emory and its community in a book-signing event to celebrate his newest book Cheating Death: The Doctors and Medical Miracles that Are Saving Lives Against All Odds.

Dr. Gupta signs his book

Dr. Gupta signs his book

It is hard to imagine having a busier schedule than the one Gupta has. On Wednesday he started his day as chief medical correspondent at CNN by discussing the new breast cancer recommendations issued by the U.S. Preventive Services Task Force. He, like other health reporters and doctors across the nation, had hundreds of questions pouring in about the controversial recommendations.

As the late afternoon approached, Gupta packed up for his visit to Emory where several hundred faculty, staff, students and neighbors awaited him for the book-signing event. After spending time presenting and answering questions, and then signing books for many people, Gupta again packed up and headed back to the CNN studio for a live show with Larry King.

Dr. Gupta presents

Dr. Gupta presents

During his presentation at Emory, Gupta talked about his experiences that led to his book. He notes one CNN story took him to Norway to meet the woman who had been skiing and slipped through a hole in the ice with her head caught under freezing water for an hour.

After an amazing rescue, Anna BÃ¥genholm was taken to the emergency room where the doctors did not give up. A doctor on the helicopter said there was a completely flat line. No signs of life whatsoever. But the team persevered and saved her life by warming her body very slowly. Even though BÃ¥genholm was alive, months of recovery lay ahead. Paralyzed for almost a year until her damaged nerves healed, she today is a radiologist at the hospital where she was saved. She has returned to skiing and other sports.

Read more about Gupta in Emory Magazine. Learn more about Gupta’s stories from on the road.

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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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Biomedical informatics impact on health care outcomes

Biomedical informatics is a multi-disciplinary field, involving the collection, management, analysis and integration of data in biomedicine used for research and healthcare delivery.

DNA double helix

DNA double helix

According to Joel H. Saltz, MD, PhD, director of Emory’s Center for Comprehensive Informatics, biomedical informatics enhances medical research via technology by making it possible to collect, weed through and analyze widespread data on patient treatments and outcomes.

Saltz is a Georgia Research Alliance Eminent Scholar and serves as chief medical information officer at Emory Healthcare and as a professor in the departments of pathology, biostatistics and bioinformatics, and mathematics and computer science at Emory.

Joel H. Saltz, MD, PhD

Joel H. Saltz, MD, PhD

A recent essay excerpted below, published by Knowledge@Emory, says advances in information technology are becoming increasingly critical to disease treatment and administrative efficiency at healthcare facilities.

Given the national debate over costs in the healthcare system, medical practitioners and IT experts say that the evolving field of biomedical informatics can provide large scale improvements in treatment processes, and ultimately, in the price tag for care.

Saltz notes in the article that biomedical informatics can be applied to any subset of medical research, giving clinicians access to “rich” or large pools of patient data and applying technological solutions and mathematical modeling to the process.

He says that the overarching goal of the Center is to foster collaboration between scientific and software systems researchers. However, the synthesis of medical information from disparate and numerous sources remains a key research effort at the Center and for other institutions and companies in the biomedical informatics field

The Center was selected recently as an In Silico Brain Tumor Research Center and will use advanced informatics tools and databases to discover more effective brain tumor treatments. Read here for more information about projects at the Center.

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