‘Genetic doppelgangers:’ Emory research provides insight into two neurological puzzles

An international team led by Emory scientists has gained insight into the pathological mechanisms behind two devastating neurodegenerative diseases. The scientists compared the most common inherited form of amyotrophic lateral sclerosis and frontotemporal dementia (ALS/FTD) with a rarer disease called spinocerebellar ataxia type 36 (SCA 36). Both of the diseases are caused by abnormally expanded and strikingly similar DNA repeats. However, ALS progresses quickly, typically killing patients within a year or two, while the disease Read more

Emory launches study on COVID-19 immune responses

Emory University researchers are taking part in a multi-site study across the United States to track the immune responses of people hospitalized with COVID-19 that will help inform how the disease progresses and potentially identify new ways to treat it.  The study is funded by the National Institute of Allergy and Infectious Diseases (NIAID), part of the National Institutes of Health. The study – called Immunophenotyping Assessment in a COVID-19 Cohort (IMPACC) – launched Friday. Read more

Marcus Lab researchers make key cancer discovery

A new discovery by Emory researchers in certain lung cancer patients could help improve patient outcomes before the cancer metastasizes. The researchers in the renowned Marcus Laboratory identified that highly invasive leader cells have a specific cluster of mutations that are also found in non-small cell lung cancer patients. Leader cells play a dominant role in tumor progression, and the researchers discovered that patients with the mutations experienced poorer survival rates. The findings mark the first Read more

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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Mammography can save lives by following ACS guidelines

The recent recommendation issued by the U.S. Preventive Services Task Force to revise screening mammography guidelines has generated considerable confusion and worry among women and their loved ones, says Carl D’Orsi, MD, FACR, director of the Emory Breast Imaging Center.

Carl D'Orsi, MD

Carl D'Orsi, MD

D’Orsi says he is counseling women who are concerned about mammograms and deciding what screening schedule to follow that they should use the long-established American Cancer Society guidelines: annual screening using mammography and clinical breast examination for all women beginning at age 40.

The recent recommendations by the task force advise against regular mammography screening for women between ages 40 and 49. It suggests that mammograms should be provided every other year (rather than yearly) for women between ages 50 and 74, and then breast cancer screening in women over 74 should be discontinued.

Mammography is not a perfect test, but it has unquestionably been shown to save lives, says D’Orsi, professor of radiology and of hematology and oncology in the Emory’s School of Medicine, and program director for oncologic imaging at Winship Cancer Institute of Emory. Since the onset of regular mammography screening in 1990, the mortality rate from breast cancer, which had been unchanged for the preceding 50 years, has decreased by 30 percent.

Winship Cancer Institute of Emory University

Winship Cancer Institute of Emory University

These new recommendations – which are based on a review that did not include experts in breast cancer detection and diagnosis – ignore valid scientific data and place a great many women at risk, continues D’Orsi.

Ignoring direct scientific evidence from large clinical trials, notes D’Orsi, the task force based its recommendations to reduce breast cancer screening on conflicting computer models and the unsupported and discredited idea that the parameters of mammography screening change abruptly at age 50.

The task force commissioned their own modeling study and made recommendations in reliance on this study before the study had ever been published, made public or held to critical peer review, and did not use both randomized, controlled trials and already-existing modeling studies, explains D’Orsi.

If Medicare and private insurers adopt these flawed recommendations as a rationale for refusing women coverage of these life-saving exams, it could have deadly effects for American women, says D’Orsi.

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Lupus expert hosts live chat on medications Nov. 23

Today, S. Sam Lim, MD, assistant professor of medicine, Emory School of Medicine, and chief of rheumatology at Grady Memorial Hospital, will host a live chat on the Lupus Foundation of America website to help educate people with lupus about the need to adhere to their medications as prescribed.

Sam Lim, MD

S. Sam Lim, MD

Lim heads two lupus clinics and is involved in several federal, state and privately funded projects, including the CDC-funded Georgia Lupus Registry. He also serves on the Medical Scientific Advisory Committee of the Lupus Foundation of America and its Georgia Chapter.

Lupus (systemic lupus erythematosus, or SLE) is a chronic inflammatory disease that can affect various parts of the body, especially the skin, joints, blood, and kidneys. The potentially life-threatening autoimmune disease affects an estimated 1.5 million Americans.

Medications cannot cure lupus, but they play an important role in managing the signs and symptoms of lupus and can often prevent or slow organ damage. Medication treatment for lupus often involves reaching a balance between preventing severe, possibly life-threatening organ damage, maintaining an acceptable quality of life and minimizing side effects.

Because most lupus symptoms are caused by inflammation, nonsteroidal anti-inflammatory drugs (NSAIDs) and antimalarial medications are usually enough to reduce symptoms, says Lim. Medications range in strength from mild to extremely strong, and often several drugs are used in combination to control the disease.

According to a new study published in the journal Arthritis Care and Research, depression is a leading reason why patients with systematic lupus erythematosus (SLE) may not take their medication.

Good communication between people with lupus and their doctors is essential to ensure effective management of the medicines that are prescribed, says Lim. An array of drug therapies is now available, and more than 30 clinical studies are underway of potential new treatments for lupus. Lim recently received a $1 million grant from the Georgia Department of Human Resources to continue his work gathering data for the five-year-old Georgia Lupus Registry, the largest, most comprehensive population-based lupus registry in the country.

Join Lim on his live chat today.

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Academic medicine at the table in health care debate

As the debate on health care reform legislation continues to move forward in Congress, Association of American Medical Colleges President and CEO Darrell G. Kirch, MD, urges leaders of the nation’s medical schools and teaching hospitals to be the standard bearers for innovation in health care delivery.

Darrell G. Kirch, MD

Darrell G. Kirch, MD

Kirch says that a year ago he was asked if he believed that academic medicine would have any voice in the health care reform debate. He answered that academic medical centers do have a strong voice in ensuring that the special contributions of our members are recognized in any proposed changes in the current legislation.

Kirch, who recently presented at Emory’s Woodruff Health Sciences Center Future Makers Lecture Series, says, “Just as we have a moral imperative to give people basic health insurance, we have an innovation imperative, as educators, researchers and clinicians, to finally make our health care system work well for everyone.”

In his presentation, Kirch pointed out that, by establishing new models of high-performance, high-value, integrated health systems, academic medical centers across the country are already undertaking clinical care innovations. Similar efforts are also occurring in research, where greater collaboration helps to address complex problems, and in medical education, where cutting-edge technologies are used to train physicians and promote lifelong learning, he noted.

AAMC-supported legislation, introduced by Rep. Allyson Schwartz (D-Pa.), to establish Healthcare Innovation Zones (HIZs), would promote the rapid expansion of successful pioneering efforts. These zones would empower centers to partner with local providers and hospitals to conduct large-scale experiments in health care delivery for specific patient populations.

Combining innovations in health care delivery, critically studying the effectiveness of these innovations and educating professionals to work in these new models play to the strengths of academic medicine, continues Kirch. The innovation imperative will allow academic medical centers to finally attain alignment of all three missions, while truly fulfilling their goal to improve the health of communities.

Listen to Kirch’s Emory presentation or read his recent address to the American Association of Medical Colleges.

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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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