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

Healthy aging on the Emory front

Emory’s Center for Health and Aging is addressing health care issues affecting the rapidly growing senior population in the United States through research, clinical care, community outreach and education.

One of the greatest challenges now facing the health care system in the United States is the rapid growth of the numbers of aging adults. It will have an unprecedented impact on the delivery of medical care, including supply of and demand for health care workers.

It is expected that the supply of health care providers may decrease at a time huge numbers of workers retire or reduce their working hours. And older adults consume a disproportionate share of American health care services, resulting in greater demand for services.

There are compelling demographic reasons to study aging and how to help the human body with supplements, as a matter of fact is something explained in this post explaining why these testosterone boosters work great. According to U.S. census records, a wave of 2.7 million Americans will turn 65 by 2011, and each succeeding year the swell gets higher until it peaks in 2025 with 4.2 million new 65-year-olds. By 2030, when the youngest boomers have become seniors, the number of Americans 65 and older is expected to be more than 70 million – nearly twice as many as in 2005, according to a report by the National Academies’ Institute of Medicine

Ted Johnson, MD

Ted Johnson, MD, MPH

Led by Theodore (Ted) Johnson II, MD, MPH, the Center benefits from well-established and successful programs in clinical care, aging research and education at Emory’s Wesley Woods Center, one of the nation’s few campuses devoted to the health and well being of older adults.

Wesley Woods is one of the nation’s most comprehensive centers for aging-related research, care and quality of life, serving more than 30,000 elderly and chronically ill patients each year through outpatient clinics, a hospital, skilled nursing care facility and residential retirement facility. In addition, Emory is affiliated with the Atlanta Veterans Affairs Medical Center, which has an extensive array of geriatric clinical, research and training programs.

The health care implications for seniors in Georgia and the U.S. are tremendous, according to Johnson. He says that the sheer numbers of older adults will place strains on our healthcare system and the family and professional caregivers who help them.

Johnson,who heads Emory’s Division of Geriatric Medicine and Gerontology, notes that it’s the cumulative effect of that surge – plus the fact that people are living far longer than ever before – that poses a looming crisis for the health care system.

For a glimpse of aging care and research at Emory: dementia research, Alzheimer’s DETECT device, diagnosing memory loss, preventing heart failure, disease prevention through nutrition, aging and fitness, and more about health initiatives at Emory Healthcare.

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Helping stem cells find their new homes

The idea that doctors could use stem cells to treat diseases ranging from amyotrophic lateral sclerosis (ALS) to stroke, spinal cord injury and heart disease has stimulated excitement and research funding over the last decade.

One critical obstacle is getting the stem cells to survive in the harsh environment of injured tissue and turn into the right kind of cell where they are needed. In both laboratory experiments and clinical trials, most of the stem cells usually die a few days after transplantation.

Exposing stem cells to reduced levels of oxygen may actually help protect them from the stressful process of being transplanted into the heart, according to recent research.

Shan Ping Yu and Ling Wei, who moved their laboratories about a year ago to Emory’s Department of Anesthesiology, were the first to show the effects of “hypoxic preconditioning.” Wei says the low oxygen strategy is a continuation of previous collaboration with Comprehensive Neurosciences Center director Dennis Choi. There, they had used the tactic of overexpressing BCl2, a gene that counteracts cell death, but the new approach avoids permanently altering the genes in stem cells, which may have long-term adverse effects.

Effects on mesenchymal stem cells' ability to implant into heart tissue. In D, the stem cells were exposed to low oxygen but in C they were not. Blue shows all cell nuclei, while green shows implanted stem cells. Yellow indicates the activation of an enzyme that leads to cell death.

Effects on mesenchymal stem cells' ability to implant into heart tissue in rats. In D, the stem cells were exposed to low oxygen but in C they were not. Blue shows all cell nuclei, while green shows implanted stem cells. The greater presence of yellow in C, a couple days after transplantation, displays the activation of an enzyme that leads to cell death. From the Journal of Thoracic and Cardiovascular Surgery.

In a way, this is consistent with the work of former Emory investigator Marie Csete, who showed that stem cells are happier and healthier in oxygen concentrations that reflect the levels they experience in the body: between 2 and 5%.

To achieve their protective effects, Yu and Wei are using oxygen concentrations of 0.5%. For comparison, room air has about 20% oxygen.

In an editorial, Yu, Wei and graduate student Molly Ogle discuss how they have been exploring whether inhibitors of enzymes that sense levels of oxygen in cells could have the same protective effects as exposure to low oxygen. Yu also reports that his group is studying how low oxygen helps stem cells home to target tissues better. Their hypothesis is that low oxygen stimulates cells’ motility — their ability to migrate into the right place. Wei’s research has shown that lower oxygen helps more stem cells to turn into neuronal cells.

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Study looks at teenage brain and risk-taking

A new study using brain imaging to study teen behavior indicates that adolescents who engage in dangerous activities have frontal white matter tracts that are more adult in form than their more conservative peers.

The brain goes through a course of maturation during adolescence and does not reach its adult form until the mid-twenties. A long-standing theory of adolescent behavior has assumed that this delayed brain maturation is the cause of impulsive and dangerous decisions in adolescence. The new study, using a new form of brain imaging, calls into question this theory.

In order to better understand the relationship between high risk-taking and the brain’s development, Emory University and Emory School of Medicine neuroscientists used a form of magnetic resonance imaging (MRI) called diffusion tensor imaging (DTI) to measure structural changes in white matter in the brain. The study’s findings are published in the Aug. 26, 2009 PLoS ONE.

“In the past, studies have focused on the pattern of gray matter density from childhood to early adulthood, says Gregory Berns, MD, PhD, principal investigator and professor of Psychiatry and Neuroeconomics at Emory University and director of the Center for Neuropolicy. “With new technology, we were able to develop the first study looking at how development of white matter relates to activities in the real world.”

Gray matter is the part of the brain made up of neurons, while white matter connects neurons to each other. As the brain matures, white matter becomes denser and more organized. Gray matter and white matter follow different trajectories. Both are important for understanding brain function.

Berns suggests that doing adult-like activities requires sophisticated skills.

“Society is a lot different now than it was 100 years ago when teens were expected to go to work and raise a family,” says Berns. “Now, adolescents aren’t expected to act like adults until they are in their twenties, when they have finished their education and found a career. Listen to Berns discuss the changing definition of adulthood.

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A shift in how geneticists study complex diseases

An Emory project studying schizophrenia genetics is a good example of how geneticists are shifting from examining small, common mutations to “rare variants” when studying complex diseases.

From studies of twins, doctors have known for a long time that heredity plays a big role in causing schizophrenia. But dissecting out which genes are the most important has been a challenge.

Three landmark studies on schizophrenia genetics published this summer illustrate the limitations of “genome wide association” studies. New York Times science reporter Nicholas Wade summarized the results in this way:

“The principal news from the three studies is that schizophrenia is caused by a very large number of errant genes, not a manageable and meaningful handful.”

The limitations from this type of study comes from the type of markers geneticists are looking at, says Steve Warren, chair of the human genetics department at Emory.

Genome wide association studies usually follow SNPs — single nucleotide polymorphisms. This is a one-letter change somewhere in the genetic code that is found in a fraction of the population. It’s not a big change in the genome, and in many cases, it will have a small effect on disease risk.

Researchers looking for the genes behind complex diseases such as schizophrenia and autism are starting to shift their efforts away from genome wide association studies, Warren says.

Think of a SNP like a misspelling of a word in a certain place in a book, he says. In contrast, the “rare variants” geneticists are starting to study more intensively are more like printers’ errors or missing pages. The rapid sequencing technology that allows scientists to investigate these changes easily is just now coming on line, he says.

One example of these rare variants is DiGeorge syndrome, a deletion that gets rid of dozens of genes on one copy of chromosome 22. Children who have this chromosomal alteration often have anatomical changes to their heart and palate. But it also substantially increases the risk of schizophrenia – to about 25% lifetime risk. That’s a lot more than any of the SNPs identified this summer.

Working with several Emory colleagues, researcher Brad Pearce is planning to examine the genes missing in DiGeorge syndrome in several groups of patients: people with DiGeorge, patients with “typical” schizophrenia and people at high risk of developing schizophrenia.

An article in this spring’s Emory Health describes genetic research on autism. Several of the researchers mentioned there, such as geneticist Joe Cubells and psychiatrist Opal Ousley, are involved in this schizophrenia project as well, because deletions on chromosome 22 also lead to an increased risk of autism.

Pearce’s project is funded through American Recovery and Reinvestment Act money from the NIH.

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Manage stress to your advantage

Recently Charles Raison, MD, assistant professor, Emory Department of Psychiatry and Behavioral Sciences, wrote a blog for the Atlanta Journal-Constitution on stress. As clinical director of the Emory Mind-Body Program and director of the Behavioral Immunology Program, he has been studying stress.

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Raison says stress is everywhere today, both in our private and public lives, but also relentlessly in print, with discussion after discussion regarding what it is and what can be done to ease it.

He notes that you should think of stress like a sandwich. One trick for dealing with stress is to try to stay in the middle of the stress sandwich in the meat of life – the optimal challenge. The basic idea, he comments, is that you see what’s in front of you as a challenge, neither boring nor threatening, difficult enough to keep you fully engaged, easy enough for you to accomplish your goals.

You can read more by Raison by visiting the Atlanta Journal-Constitution Doctor Is In blog online.

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Gaining better medicine in translation

 

David Stephens, MD

David Stephens, MD

Translational research has traditionally been thought of as the process of moving a discovery in one direction – from the laboratory to the patient. More recently, though, researchers have recognized the importance of community engagement in the biomedical discovery process. That’s because involving the community makes for better medical care for patients.

The Atlanta Clinical and Translational Science Institute (ACTSI) is a partnership of educational, research, and health care institutions that involves the community in clinical research that translates laboratory discoveries into advanced treatments for patients. The ACTSI is part of the Clinical and Translational Science Awards (CTSA) of the National Center for Research Resources (NCRR) of the National Institutes of Health.

The ACTSI’s goal of supporting more effective clinical and translational research has led to a broader definition of translation: discovering what new healthcare tools, diagnostic tests and therapies a community needs and then taking that information back to the laboratory or conducting clinical research to find ways to meet those needs.

David Stephens, MD, is principal investigator of the ACTSI. Stephens says community engagement brings together leaders who discuss the health care needs of their respective communities. Researchers can then periodically meet with leaders, and let them know what progress is being made in the laboratory.

The ACTSI also brings together laboratory scientists with clinical investigators, community clinicians, professional societies and industry collaborators in a wide variety of research projects.

The ACTSI is led by Emory University, along with Morehouse School of Medicine, the Georgia Institute of Technology, Children’s Healthcare of Atlanta, and Kaiser Permanente Georgia. Other partners include the Centers for Disease Control and Prevention, Grady Health System, the Georgia Research Alliance, Georgia Bio, the Atlanta Veterans Affairs Medical Center, and the American Cancer Society.

To hear Stephens’ own words about translational research and the ACTSI, listen to Emory University’s Sound Science podcast.

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H1N1 pediatric flu vaccine clinical trials underway

Emory doctors discuss H1N1 flu vaccine testing

Emory doctors discuss H1N1 flu vaccine testing

Clinical trials are underway at Emory and Children’s Healthcare of Atlanta testing an investigational H1N1 flu vaccine along with the seasonal flu vaccine. Emory will enroll about 100 children, ages six months to 18 years, and up to 650 children nationally will participate in the study.

The study will look at the safety of and measure the body’s immune response to the H1N1 flu vaccine. In addition, it will help determine how and when the vaccine should be given with the seasonal flu vaccine to make it most effective.

Another important factor is learning if there are any potential problems by giving the vaccines together, such as whether one vaccine will undermine the protective power of the other.

The answer is important because experts are predicting that both strains of flu will circulate this fall and winter.

The clinical trial is part of the Vaccine and Treatment Evaluation Units (VTEUs), supported by the National Institute of Allergy and Infectious Diseases (NIAID) of the National Institutes of Health (NIH). At Emory, this team is led by Mark Mulligan, MD, executive director of the Hope Clinic of the Emory Vaccine Center.

The Emory pediatric clinical trial is taking place at the Emory-Children’s Center. It is led by Emory VTEU co-directors Harry Keyserling, MD, professor of pediatric infectious diseases at Emory School of Medicine and Paul Spearman, MD, chief research officer for Children’s Healthcare of Atlanta and vice chair of research for Emory’s Department of Pediatrics, along with Allison Ross, MD, Emory assistant professor of pediatric infectious diseases.

Keyserling says that because children and young adults are considered among the most vulnerable populations for new and emerging strains of influenza, such as the current H1N1 pandemic, it is critically important that testing for a vaccine is quick and efficient.

The pediatric trial follows the launch of a VTEU-led adult clinical trial of the H1N1 and seasonal flu vaccines, which began at Emory’s Hope Clinic on Aug. 10 and will continue with followup visits for the next six weeks by a group of more than 170 volunteers.

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New tool in the fight for scarce donor organs

With so many men, women and children desperately awaiting a life-saving donor liver through traditional means – those donated by a deceased individual – transplant surgeons at Emory University Hospital looked for ways to improve the odds. transplantcenterlogo

Recently, Emory doctors were the first in Georgia to perform a rare “domino” liver transplant procedure – in effect saving two lives with one donor organ. The doctors had a opportunity to discuss the procedure at a media briefing held a few days ago.

The United Network for Organ Sharing (UNOS) says there are currently more than 16,000 Americans currently awaiting a liver transplant.

Domino liver transplant procedures are aptly named for the sequential, one-after-the-other nature of the process in which a viable liver from a deceased donor is transplanted into the first recipient, and the first recipient’s organ is then transplanted into a second recipient. The procedure is still extremely unusual, with fewer than 100 done in the United States since the first in 1996.

According to Stuart Knechtle, MD, professor of surgery in the Emory School of Medicine and director of the Emory liver transplant program, domino transplants are a rare but effective way of overcoming the national shortage of organs available for transplant. In most cases of domino liver transplants, one of the donated livers is transplanted from a patient with another type of disorder that does not affect the organ recipient.

“This successful domino liver transplant is something that simply does not start or end in a hospital operating room,” says Knechtle.

Liver recipient Bob Massie discusses his “miracle.”

Liver recipient Jean Handler discusses being “thankful and shocked.”

“This procedure, which saved two lives,” says Knechtle, “and will impact both families for many years to come, is the end result of a long chain of special events, starting with the decision by one person to donate the gift of life upon his untimely demise, which in turn allowed the recipient of that person’s organ to then donate hers to another patient.”

You can view the full briefing at this web site.

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Jeff Koplan discusses H1N1 on panel

Experts on H1N1 influenza are collaborating all across the country to learn more about the virus and how to prevent its transmission. In a race against time, Emory studies are taking place in the lab and in human clinical trials to help find a vaccine that can be used in the near weeks to come.

Recently, Emory’s Jeff Koplan, MD, vice president for global health and past CDC director, participated in a Breakthroughs panel sponsored by Big Think, Pfizer and Discover to discuss the latest issues in pandemic and genomic science, fields that have not only made big headlines recently but also promise to be two of the most pressing topics in global science and medicine in coming years.

Jeffrey P. Koplan, MD, MPH

Jeffrey P. Koplan, MD, MPH

The panel focused on the real-time, round-the-clock scientific mission to understand the history, significance, and future of the new strain of flu that emerged suddenly this spring. Panelists included Koplan; Barry Bloom, Joan L. and Julius H. Jacobson Professor of Public Health at Harvard; Peter Palese, chairman of the microbiology department at Mt. Sinai Medical Center; and Michael Worobey, ecologist and evolutionary biologist at the University of Arizona.

View: Superbug – Are We Prepared for The Next Great Plague?


Emory began signing up several hundred interested volunteers several weeks ago for a clinical trial of the H1N1 vaccine along with the seasonal flu vaccine. About 170 adults have now been vaccinated in the trial, which will last about nine weeks and involve several vaccinations and blood tests. A clinical trial testing the H1N1 vaccine in children will begin at Emory and Children’s Healthcare of Atlanta in the next few days, followed by another adult clinical trial adding an adjuvant to the H1N1 vaccine.

In addition, a multi-pronged attack against the H1N1 virus by Emory researchers is using a new method of rapidly producing highly targeted monoclonal antibodies to develop a diagnostic test as well as a temporary therapy to stave off the H1N1 virus. The antibodies, which can be isolated from a small amount of the blood of humans infected with the virus, could be targeted against H1N1 and rapidly reproduced to detect or attack the virus.

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Biomaterials used for hips and knees

Orthopaedics is a constantly evolving subspecialty where medical technology and research drives the development of new products used for reconstruction of body parts, specifically for hip and knee replacements or Knee Pain Stem Cell Treatment.

Emory has been on the forefront of investigating and using three materials for these replacements: ceramic on ceramic surfaces, metal on metal surfaces, or highly cross-linked polyethylene. These newer biomaterials can reduce wear rates by over 99 percent compared to previous materials, thus enhancing the life of the new hip or knee.

Adult reconstruction or hip and knee arthritis surgery delivers quality outcomes that make a dramatic improvement in a patient’s quality of life. At the first post-operative visit, patients are more comfortable, have less pain and are even more functional than before their surgery.

Orthopeadic surgeon James R. Roberson, MD, chairman, Department of Orthopaedics in Emory School of Medicine, and professor of orthopaedic surgery specializes in adult reconstructive surgery of the hip and knee.

Roberson has been involved in clinical research for more than 20 years to solve difficult problems of the arthritic hip and knee. He pioneered a minimally invasive surgery technique for knee replacement that allows him to use smaller incisions in certain patients who have uncomplicated conditions.

Visit Emory University Orthopaedics & Spine Center and Emory University Orthopaedics & Spine Hospital to learn more about orthopaedic services and watch a video about the hospital.

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