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
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
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 Childrenâ€™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 childrenâ€™s hearts respond differently to medications and surgery than adultsâ€™ 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 patientâ€™s heart and would otherwise be discarded.
The ultimate goal of Wagnerâ€™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.
Wagnerâ€™s research labs are housed at The Emory-Childrenâ€™s Center, a joint venture between Emory Healthcare and Childrenâ€™s Healthcare of Atlanta.
If the brain acts like a computer, which of the brain’s physical features store the information? Flashes of electricity may keep memories and sensations alive for the moment, but what plays the role that hard drives and CDs do for computers?
A simple answer could be: genes turning on and off, and eventually, neurons growing and changing their shapes. But it gets more complicated pretty quickly. Genes can be regulated at several levels:
at the level of transcription — whether messenger RNA gets made from a stretch of DNA in the cell’s nucleus
at the level of translation — whether the messenger RNA is allowed to make a protein
at the level of RNA localization — where the mRNAs travel within the cell
Each neuron has only two copies of a given gene but will have many dendrites that can have more or less RNA in them. That means the last two modes of regulation offer neurons much more capacity for storing information.
Gary Bassell, a cell biologist at Emory, and his colleagues have been exploring how RNA regulation works in neurons. They have developed special tools for mapping RNA, and especially, microRNA — a form of RNA that regulates other RNAs.
In the dendrites of neurons, FMRP seems to control where RNAs end up
Fragile X mental retardation protein (FMRP), linked to the most common inherited form of mental retardation, appears to orchestrate RNA traffic in neurons. Bassell andÂ pharmacologist Yue Feng recently received a grant from the National Institute of Child Health and Development to study FMRP’s regulation of RNA in greater detail. The grant was one of several at Emory funded through the American Recovery and Reinvestment Act’s support for the NIH.
In the video interview above, Bassell explains his work on microRNAs in neurons. Below is a microscope image, provided by Bassell, showing the pattern of FMRP’s localization in neurons.
Between 1994 and 2006, in-hospital death rates decreased among all patients, but decreased more strikingly in women than in men. The decreased risk of death was largest in women younger than 55 years (a 52.9 percent reduction) and lowest in men of the same age (33.3 percent). The absolute reduction in the risk of death among patients younger than 55 was three times larger in women (2.7 percent) than men (0.9 percent).
Vaccarino and her colleagues say a large part (93 percent) of this sharper decrease in mortality of younger women compared with men in recent years is due to the improved risk profile of women compared with men at the time of the heart attack hospitalization, perhaps the result of better recognition and management of coronary heart disease and its risk factors in women before the acute heart event.
Whatever the reason, the improvement indicates that we are headed in the right direction, says Vaccarino. Increased and ongoing awareness to the prevention of cardiovascular risk factorsâ€”by healthy diet, regular physical activity and avoidance of smoke and smokingâ€”is saving lives, she notes.
Service members returning from war historically have been haunted by traumatic memories related to combat. Problems can arise when these troublesome memories are suppressed instead of being confronted.
The military trains its service members well for combat, but teaching each individual how to deal emotionally with the trauma that comes with it is a challenge that has yet to be resolved. Unfortunately, many of those brave men and women have trouble admitting or recognizing an emotional problem. They tend to believe that avoiding troublesome memories is the best solution and do not come forward for help.
Once a service member returns home from a war zone, symptoms caused by haunting memories can arise and begin to interfere with every day activities. When those symptoms last for more than four weeks, it is likely that individual has posttraumatic stress disorder (PTSD).
Emory researcher Barbara Rothbaum, PhD, professor of psychiatry and behavioral sciences, Emory School of Medicine, and director of the Trauma and Anxiety Recovery Program, has been treating military personnel with posttraumatic stress for more than a decade, helping them to learn how to deal with the troubling memories. Through exposure therapy, the service members are taught that by re-living the traumatic event, they can begin to handle those memories when they surface. Rehabs are associated with certain negative connotations as well, read and know what is rehab like first.
Rothbaum is also a pioneer in exposure therapy using virtual reality software that was developed for both Vietnam veterans and service members returning from the war in Iraq.
Military commanders recognize that symptoms of PTSD are not as obvious as a physical injury, but nonetheless just as important, and they are ready to develop programs to quickly identify and treat active duty service members and veterans who are showing symptoms of PTSD before they worsen, says Rothbaum.
PTSD is treatable and treatments vary from exposure therapy to medication to meditation techniques. Symptoms include reliving the event; avoiding situations that stir up memories of the event; discomfort expressing feelings; being constantly on the lookout for danger; irritability; drinking or drug problems and employment, social and relationship problems.
Just like diabetes and hypertension, depression is a prevalent medical condition that is highly treatable. However, if ignored, it appears to increase the risk for heart disease. Researchers at Emory are continuing studies related to the link between depression and heart disease as a result of a 2-year, $1.5 million grant from the National Institutes of Health (NIH) through the 2009 American Recovery and Reinvestment Act.
Vaccarino says although depression has been implicated as a risk factor for heart disease for many years, there is still question whether this is a causal association or whether there are other reasons why people who are depressed may be more likely to get heart disease. Clarification of these mechanisms will improve our understanding of the disease and ultimately point to more effective primary prevention strategies for the identification and treatment of high-risk individuals.
Vaccarino and her team will study twin males born between 1946 and 1956 from the Vietnam Era Twin Registry comparing one twin who has depression and one who does not. She says this is almost a natural experiment, allowing researchers to separate out genetics and influences from the environment or behavior.
Vaccarino will be looking at myocardial blood flow measured with PET, a common imaging technique of the heart. It can quantify exactly how much blood is going to the coronary arteries in the heart and carefully determine if depression is associated with decreased blood flow to the heart.
This grant builds on a previous project looking at the same population of twins and allows researchers to bring these twins back and compare two time points. Researchers measured myocardial blood flow with PET a few years ago and will now be able to monitor progression of heart disease over time
Jane Fonda, founder/chair of the Georgia Campaign for Adolescent Pregnancy Prevention (GCAPP), along with local teenagers and Atlanta community groups have launched the Start Strong: Building Healthy Teen Relationships Program. Its goal is to stop teen dating violence and abuse before it starts.
The Jane Fonda Center at Emory was chosen as one of 11 community organizations nationwide to receive $1 million in funding through the Robert Wood Johnson Foundationâ€™s national Start Strong initiative. This is the largest national public health initiative ever funded, targeting 11-to-14-year-olds, to stop teen dating violence.
Jane Fonda speaks at the event
Fonda says the initiative, both locally and nationally, promises to educate and empower teens and their surrounding communities that dating violence and abuse among teenagers must be stopped before it ever starts.
With teen dating abuse a significant public health issue in this country, Fonda wants to focus on teaching young people to develop healthier and more positive relationships at an early age.
As part of this four-year initiative, Start Strong Atlanta will rally the entire community, including teenagers, parents, caregivers, educators, coaches and community leaders to build environments that support healthy relationships and ensure violence and abuse are never tolerated.
Students perform at the Start Strong event
Melissa Kottke, MD, MPH, assistant professor in the Department of Gynecology and Obstetrics, Emory School of Medicine, is the director of the Jane Fonda Center. She notes that October is Domestic Violence Awareness Month and the campaignâ€™s launch was the perfect tie-in. Kottke is also the principal investigator of the national initiative at Emory.
The Jane Fonda Center along with its partners, Atlanta Public Schools and Grady Memorial Hospital Teen Services Program, have together developed a comprehensive community plan for this initiative. This plan will focus on four core strategies involving education, policy change, community outreach and social marketing campaigns to empower local teens to develop healthier relationships.
Learn more about Start Strong Atlanta and other related events going on during Domestic Violence Awareness Month. Find out what Fonda said about the event on her blog.
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.
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.
Threelandmarkstudies 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.
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.
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.