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

Research

How muscles get stronger — and the nose knows

Scientists at Emory studying muscle repair have discovered an unexpected function for odorant receptors.

Odorant receptors’ best known functions take place inside the nose. By sending signals when they encounter substances wafting through the air, odorant receptors let us know what we’re smelling. Working with pharmacologist Grace Pavlath, graduate student Christine Griffin found that the gene for one particular odorant receptor is turned on in muscle cells during muscle repair.

The activation of the odorant receptor gene MOR23 is visible in muscle tissue in pink. Cell nuclei appear as blue.

The activation of the odorant receptor gene MOR23 is visible in muscle tissue in pink. Cell nuclei appear as blue.

Grace Pavlath, PhD

Grace Pavlath, PhD

Christine Griffin

Christine Griffin

“Normally MOR23 is not turned on when the tissue is at rest, so we wouldn’t have picked it up without looking specifically at muscle injury,” Pavlath says. “There is no way we would have guessed this.”

The finding could lead to new ways to treat muscular dystrophies and muscle wasting diseases, and also suggests that odorant receptors may have additional unexpected functions in other tissues.

While we’re on the topic of odorant receptors, a great article in November’s Howard Hughes Medical Institute Bulletin describes Emory psychiatrist Kerry Ressler’s work with Linda Buck when he was a graduate student.

From the article:

“I had never thought about smell a day in my life until I heard Linda give her talk,” Ressler says, still jazzed by the memory, “and I was absolutely blown away.” Buck had methodically identified about 1,000 odorant receptor (OR) genes and she outlined an orderly plan for decoding their function.

…Over the next three years, Ressler’s dissertation work contributed to the accomplishments that earned Buck the 2004 Nobel Prize in Physiology or Medicine, which she shared with HHMI investigator Richard Axel. Prominently displayed in Ressler’s Emory office is a framed picture of him with Buck at the Stockholm ceremony, both grinning broadly in formalwear.”

Ressler and his colleagues at Yerkes National Primate Research Center now study how fearsome memories become lodged in our brains. Since smell is often described as accessing the most primitive parts of the brain, the connection between Ressler’s past and present makes sense.

Kerry Ressler, MD, PhD, when he's not in Stockholm

Kerry Ressler, MD, PhD, when he's not in Stockholm — Parker Smith / PR Newswire, © HHMI

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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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World AIDS Day reminds of research priorities

AIDS quilt panels_shadowsEmory University is hosting an 800-panel display of The AIDS Memorial Quilt in recognition of World AIDS Day. “Quilt on the Quad,” on the Emory quadrangle, is the largest collegiate display and the second largest in the world today. An opening ceremony featured a talk by Sandra Thurman, president and CEO of the International AIDS Trust, based at Emory’s Rollins School of Public Health. Members of the Emory community read the names of each individual memorialized by a quilt panel on the quad.

An estimated 60 million people have acquired HIV, and 25 million people have died from AIDS. Emory scientists and physicians have been leaders in research to develop effective drugs and vaccines against HIV and AIDS. The Emory Center for AIDS Research is an official National Institutes of Health CFAR site. More than 120 faculty throughout Emory are working on some aspect of HIV/AIDS prevention or treatment.

More than 94 percent of HIV patients in the U.S. on life saving antiviral therapy take a drug developed at Emory. And many of the scientists within the Emory Vaccine Center are focused on finding an effective vaccine against HIV. A vaccine developed at the Vaccine Center and Yerkes National Primate Research Center is being tested nationally in a phase II clinical trial.

The Hope Clinic of the Emory Vaccine Center is conducting several clinical trials of HIV vaccine candidates through the HIV Vaccine Trials Network (HVTN) sponsored by the NIH. The HVTN 505 vaccine trial, which is currently enrolling at the Hope Clinic and 13 other cities around the country, is a test-of-concept efficacy trial for an NIH vaccine (DNA + Adnovirus – gag/pol/nef/EnvABC).

Mark Mulligan, MD, executive director of Emory’s Hope Clinic, emphasizes that on World AIDS Day there would be no better way to honor those who have already died or are already infected than to produce a vaccine that will protect their families and friends.

“The recent analysis of the RV144 Thai trial surprisingly taught us that an envelope glycoprotein vaccine regimen can protect (albeit modestly, thus far)! This is an amazing result that has re-ignited the field, and is capturing the attention of the community. We must do all we can to leverage this result for success,” Mulligan says. “Albert Sabin said that no scientist can rest while a vaccine that might help humanity sits on the shelf. To me, this underscores the importance of successfully executing the HVTN 505 trial.”

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Mapping mRNAs in the brain

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

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 and 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.

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Inflammatory bowel disease gene regions identified

In the largest, most comprehensive genetic analysis of childhood-onset inflammatory bowel disease (IBD), Emory and Children’s Healthcare of Atlanta gastroenterologist Subra Kugathasan, MD, and colleagues identified five new gene regions, including one involved in a biological pathway that helps drive the painful inflammation of the digestive tract that characterizes the disease.

Subra Kugathasan, MD

Subra Kugathasan, MD

IBD is a painful, chronic inflammation of the gastrointestinal tract, affecting about 2 million children and adults in the United States. Of that number, about half suffer from Crohn’s disease, which can affect any part of the GI tract, and half have ulcerative colitis, which is limited to the large intestine.

Most gene analyses of IBD have focused on adult-onset disease, but this study concentrated on childhood-onset IBD, which tends to be more severe than adult-onset disease.

Kugathasan and a team of international researchers performed a genome-wide association study on DNA from over 3,400 children and adolescents with IBD, plus nearly 12,000 genetically matched control subjects, all recruited through international collaborations in North America and Europe.

In a genome-wide association study, automated genotyping tools scan the entire human genome seeking gene variants that contribute to disease risk.

The study team identified five new gene regions that raise the risk of early-onset IBD, on chromosomes 16, 22, 10, 2 and 19. The most significant finding was at chromosome locus 16p11, which contains the IL27 gene that carries the code for a cytokine, or signaling protein, also called IL27.

Kugathasan says one strength of the current study, in addition to its large sample size, is the collaboration of many leading pediatric IBD research programs, which included Emory, The Children’s Hospital of Philadelphia, the Hospital for Sick Children of the University of Toronto; the University of Edinburgh, UK; Cedars Sinai Medical Center, Los Angeles; and the IRCCS-CSS Hospital, S. Giovanni Rotondo, Italy.

The study, “Common variants at five new loci associated with early-onset inflammatory bowel disease,” was published in the November 2009 online issue of Nature Genetics.

Learn more about Kugathasan’s work at Emory.

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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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Costs will rise as rates of obesity in the U.S. grow

Today’s news points to a study on projected obesity costs released by Kenneth E. Thorpe, PhD, Robert W. Woodruff professor and chair of health policy at Rollins School of Public Health, and colleagues from Emory. The unique study departs from looking at historical costs of obesity and uses an econometric model developed by Thorpe and team to estimate the growth of health care costs over time that are linked to changes in obesity rates.

Obesity costs rising

Obesity costs rising

Using nationally representative data on adults, the study estimates the effect of the increasing prevalence of obesity on total direct health care costs in the next decade. The report is titled “The Future Costs of Obesity: National and State Estimates of the Impact of Obesity on Direct Health Care Expenses.”

The report was commissioned by three groups – the UnitedHealth Foundation, the Partnership for Prevention and the American Public Health Association – in conjunction with their annual America’s Health Rankings report.

Major findings from the report include:

  • Obesity is growing faster than any previous public health issue our nation has faced. If current trends continue, 103 million American adults will be considered obese by 2018.
  • The United States is expected to spend $344 billion on health care costs attributable to obesity in 2018 if rates continue to increase at their current levels. Obesity‐related direct expenditures are expected to account for more than 21 percent of the nation’s direct health care spending in 2018.
  • If obesity levels were held at their current rates, the United States could save an estimated $820 per adult in health care costs by 2018 ‐ a savings of almost $200 billion dollars.

Thorpe says, “At a time when Congress is looking for savings in health care, this data confirms what we already knew: obesity is where the money is. Because obesity is related to the onset of so many other illnesses, stopping the growth of obesity in the U.S. is vital not only to our health, but also to the solvency of our health care system.”

The Partnership to Fight Chronic Disease, co-directed by Thorpe, says that a top priority must be addressing the obesity epidemic through meaningful, evidence-based approaches, including:

  • Removing barriers and empowering Americans to take control of their health.
  • Educating Americans to see being obese as a serious medical condition that significantly heightens their risk for other health problems
  • Ensuring that fear about the stigma of obesity does not eclipse the need to combat it
  • Redesigning our health care system to treat obesity like a preventable medical condition
  • Engaging employers and communities to get them invested in promoting wellness

Follow Thorpe on his Health Reform Blog.

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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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$30M grant to Children’s Healthcare supports Emory partnership

Pediatric researchThe Joseph B. Whitehead Foundation has given $30 million to Children’s Healthcare of Atlanta to support pediatric research. The grant includes $25 million to help fund a new research building located on the Emory campus, and $5 million to support the Marcus Autism Center.

The grant will allow Children’s and Emory to expand their research partnership, attract top scientists, and advance research discoveries that will improve the health of children.

Some of the pediatric research conducted in a new building to be built on the Emory campus will focus on cardiology, cancer, vaccines, and new drug discovery. The grant has implications for the city of Atlanta as a growing research community, building on collaborations among Children’s Healthcare, Emory, Georgia Institute of Technology, Morehouse School of Medicine, and others.

Fred Sanfilippo, MD, PhD, executive vice president for health affairs at Emory, and Donna W. Hyland, president and CEO of Children’s Healthcare of Atlanta, explained that the new grant, which is the largest single gift ever to Children’s, will have an enormous impact on the two institutions, building on the strong partnership between Emory and Children’s and leading them to become a major pediatric research hub in the Southeast and the nation. Most importantly, it will help in finding cures for some of the most common and devastating childhood diseases.

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Reducing stress in cancer patients and caregivers

Emory’s Susan Bauer-Wu, PhD, RN, is recognized both nationally and internationally for her understanding of the mind-body connection and enhancing the quality of life for individuals affected by cancer. Her research programs aim to make a difference in the care that cancer patients receive and in the health of family caregivers through palliative care and integrative medicine and health. To know more about integrative medicine, one can visit an integrative medicine clinic.

Susan Bauer-Wu, PhD, RN

Susan Bauer-Wu, PhD, RN

Bauer-Wu, nurse scientist and Georgia Cancer Coalition Distinguished Cancer Scholar, joined Emory’s Nell Hodgson Woodruff School of Nursing and Emory Winship Cancer Institute faculties in 2007.

Bauer-Wu studies whether psycho-behavioral interventions have a positive effect on psychological and physical health. She is currently conducting a large randomized clinical trial that looks at whether meditation affects subjective symptoms as well as lab findings such as stress hormones or how long a patient’s white blood cells take to recover after a bone marrow transplant.

This National Institutes of Health (NIH)-funded study has enrolled 241 patients at Emory and the Dana-Farber Cancer Institute, where Bauer-Wu previously served as director of the Phyllis F. Cantor Center for Research in Nursing and Patient Care Services. The study will finish in 2010. Bauer-Wu is also involved in research with neuro-imaging to see what parts of the brain respond to such interventions.

Bauer-Wu says mindfulness meditation provides skills for the cancer patient as well as CBD consumption (CBD gummies are great for stress) to better cope with stressful circumstances, and in turn, the stress response can be minimized, and a sense of well-being ensues, and the cancer patient feels more relaxed, in control and physically comfortable. Bauer-Wu’s interest in cancer patients began early in her career when she worked as an oncology nurse.

In addition, she recently received a $3.5 million NIH grant for a study aimed at reducing heart disease risk and improving health and wellbeing among family caregivers of dementia and heart failure patients.

Recently, the American Academy of Nursing inducted Bauer-Wu into its new Fellowship class of 98 top national nursing. Fellows are elected through a highly selective process that recognizes individuals who have made major contributions to nursing and health care and whose work has influenced health policies benefiting all Americans.

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