Tagged: School of Medicine
BUSM /BMC Researcher Receives Grant to Examine Food Insecurity in Households with a Child with Special Healthcare Needs
For Immediate Release, June 12, 2013
Contact: Jenny Eriksen Leary, email@example.com, 617-638-6841
(Boston) – Ruth Rose-Jacobs, ScD, associate professor of pediatrics at Boston University School of Medicine (BUSM) and a research scientist at Boston Medical Center (BMC), has received funding for a two-year study to examine the association between the presence of young children with special healthcare needs in households and food insecurity. Rose-Jacobs, also a child development researcher with Children’s HealthWatch, is the principal investigator (PI) on this $249,984 grant awarded by the University of Kentucky’s Research Program on Childhood Hunger, which is funded by the United States Department of Agriculture (USDA) Food and Nutritional Service.
Children with special health care needs (SHCN) are children who have, or are at increased risk for a chronic physical, developmental, behavioral, or emotional condition and require health and related services of a type or amount beyond that required by children generally. The research project will examine the impact of having a young child with SHCN on child and/or household food insecurity in low-income households. Food insecurity is not being able to afford enough food for an active, healthy life for all household members. According to the National Survey of Children with Special Health Care Needs, approximately 15 percent of US children under the age of 17 have SHCN. Households with versus without a child with SHCN are more likely to live at or near the poverty level. The presence of a child with SHCN is associated with lower overall household adult employment due to the increased care needs of the child, which may be associated with family material hardships.
“We anticipate that households with a child with SHCN suffer disproportionately from food insecurity,” said Rose-Jacobs, who is one of three recipients of these two-year grants on food insecurity. “This study could have important implications for the expansion of food insecurity screening and inform practice in federal and state nutrition and non-nutrition assistance programs aimed at reducing food insecurity and other material hardships.
The study will take place at safety-net hospitals in Baltimore, Boston, Little Rock, Ark., Minneapolis and Philadelphia.
In 2011, approximately 25 percent of American households with children under 6 years of age were food insecure at some point during the year, according to data from the USDA’s Economic Research Service. According to Children’s HealthWatch (www.childrenshealthwatch.org), children from food insecure households, when compared to those from food secure households, are 90 percent more likely to be reported in fair or poor health and are two thirds more likely to be at risk for developmental delays.
To read more about the study, visit: http://www.ukcpr.org/CHTaskOrderRFP.aspx
For Immediate Release, May 1, 2013
Contact: Jenny Eriksen, 617-638-6841, firstname.lastname@example.org
(Boston) – A Boston University School of Medicine (BUSM) study shows a mind-body class elective for medical students helps increase their self-compassion and ability to manage thoughts and tasks more effectively. The study, published in Medical Education Online, also discusses how this innovative course may help medical students better manage stress and feel more empowered to use mind-body skills with their patients.
Allison Bond, MA, a third-year medical student at BUSM, served as the paper’s first author. The course was designed and taught by co-author Heather Mason, MA, founder and director of the Minded Institute.
“An effective career in medicine requires technical competence and expertise, but just as important is the ability to empathize and connect with others, including patients,” said Robert Saper, MD, MPH, director of integrative medicine at Boston Medical Center and associate professor of family medicine at BUSM. However, medical students experience tremendous demands from workload, stress and competition from other students to succeed, resulting in burnout and a decreased ability to connect with patients, according to studies.
“Research has shown that mindfulness meditation and yoga may increase psychological well-being, which is why we looked at how a course based on these principles could impact medical students,” said Bond.
The 11-week course, Embodied Health: Mind-Body Approaches to Well-Being, was open to first and second year medical students in good academic standing. It was developed to teach students about mind-body approaches, and the neuroscience behind the activities, that they might not otherwise learn in medical school but could use to help their patients achieve better overall health. Offered for the first time in Spring 2012, it met once weekly and included a 30 minute lecture about the neuroscience of yoga, relaxation and breathing exercises followed by a 60 minute yoga, deep breathing and mediation session. Each student was asked to practice the techniques (breathing, yoga, etc.) at least three times a week.
Participants filled out surveys before the course began and after it ended, and were asked about perceived empathy, perceived stress, self-regulation (ability to develop, implement and flexibly maintain planned behavior to achieve goals) and self-compassion. They also were asked to compose a one-page essay at the completion of the course to discuss if what they learned helped them personally and whether it influenced their ability to cope with stress or enhanced their sense of well-being.
Overall, responses indicate a statistically significant increase in self-regulation and self-compassion. There also was a decrease in perceived stress and an increase in empathy, although not statistically significant. The essays also indicate that the course helped many students:
- feel more aware of their bodies,
- feel a sense of community among their peers despite the competitive environment,
- build confidence in using mind-body skills with patients and
- better manage stress.
“Our study provides compelling evidence that mind-body approaches have benefits for medical students and could have a positive impact on their interaction with peers and patients,” said Bond.
For Immediate Release: April 25, 2013
Contact: Jenny Eriksen Leary, 617-638-6841, email@example.com
(Boston) – A study conducted by researchers at Boston University School of Medicine (BUSM) provides new evidence that longwave ultraviolet light (UVA) induces a protein that could result in premature skin aging. The findings demonstrate that aspects of photoaging, the process of skin aging by chronic exposure to ultraviolet radiation, could be linked to genetic factors that accelerate the aging process when induced by the environment.
The study, published in the Journal of Investigative Dermatology, was led by BUSM co-authors Thomas M. Ruenger MD, PhD, professor and vice chair of the department of dermatology, and Hirotaka Takeuchi, MS.
Photoaging is attributed to continuous exposure to UVA and shortwave ultraviolet light (UVB) rays over a long period of time and affects skin surfaces most often exposed to sunlight, including the face, ears, hands and neck. The UVA or UVB rays can be from the sun or from synthetic sources, such as tanning beds. Progerin is a protein that has been associated with both normal and abnormal aging. In Hutchinson Gilford Progeria syndrome, a genetic disorder characterized by a vast acceleration of aging of most organs, expression and accumulation of progerin is caused by a mutation in the Lamin A gene.
In this study, skin cells were cultured and exposed to UVB or UVA rays and then examined for expression and accumulation of progerin. The results showed that progerin is induced by ultraviolet light, specifically UVA rays, and that this induction is mediated by reactive oxygen species causing alternative splicing of the LaminA gene pre-mRNA.
“This, to our knowledge, is the first time that induction of progerin is described in response to an external agent,” said Ruenger, who also is professor of pathology and laboratory medicine at BUSM and a dermatologist at Boston Medical Center. “Our results reveal a novel mechanism by which UVA rays, which are often emitted from tanning beds, may play a role in the acceleration of photoaging of the skin.”
The researchers also note that some aspects of photoaging should be regarded as a process of damage-accelerated intrinsic aging and that intrinsic and extrinsic aging are interdependent.
Robert J. Vinci, MD, Appointed Chief/Chair of Pediatrics at Boston Medical Center, Boston University School of Medicine
FOR IMMEDIATE RELEASE: April 2, 2013
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(Boston) – West Roxbury resident Robert J. Vinci, MD, has been appointed Chief of Pediatrics at Boston Medical Center (BMC) and the Joel and Barbara Alpert Professor and Chair of the Department of Pediatrics at BU School of Medicine (BUSM).
For the past 20 years, Vinci has served as Vice Chair and Clinical Chief of the Department, providing leadership for the significant expansion of pediatric clinical services. “We are fortunate to have someone of his skill level to lead the department. His commitment to the community and to our patients is highlighted by his central role in a number of initiatives at BMC,” said BMC President & CEO Kate Walsh. He co-founded the Kids Fund at BMC, which provides assistance for children’s most basic needs to give them a foundation for a healthy and bright future. He led the campaign to establish a window fall prevention program for children in Boston, called Kids Can’t Fly, which has led to a dramatic decrease in the number of window fall-related injuries. And in partnership with the Massachusetts Department of Public Health, Vinci provided leadership to establish the Massachusetts Emergency Medical Services Program for Children, which created training protocols and guidelines for children in the statewide EMS system.
Vinci received his medical degree from the College of Medicine and Dentistry-Rutgers Medical School, now known as the Robert Wood Johnson Medical School. He completed his pediatric residency at the former Boston City Hospital (now BMC), serving as chief resident, in 1983. He joined the Department of Pediatrics at Boston University School of Medicine in 1984 and two years later he established the Division of Pediatric Emergency Medicine at Boston City Hospital.
An innovative leader in medical residency education throughout his career, he founded the fellowship program in Pediatric Emergency Medicine BMC in 1988 and has directed Pediatric residency training at BMC since 1989. In 1996, Vinci, along with Frederick H. Lovejoy, MD, established the Boston Combined Residency Program in Pediatrics, one of the nation’s leading Pediatric residency programs. “He has championed research activities, global health training and flexible training opportunities for pediatric residents,” said BUSM Dean Karen Antman, MD.
Vinci has authored more than 60 peer-reviewed papers and book chapters on the topics of pediatric emergency medicine and pediatric education. He also has received numerous awards for teaching and mentoring, among them BUSM’s Leonard Tow Humanism in Medicine Award in 2010. He is a member of the National Board of Directors for the Association of Pediatric Program Directors, the American Academy of Pediatrics, the Academic Pediatric Association and the Academic Pediatric Society.
BMC Medical Center is one of the largest providers of pediatric services to low-income children in Boston and is known for its innovative approach to chronic illnesses, including asthma, sickle cell anemia, type 1 diabetes, HIV and failure to thrive.
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Could lead to the development of broad spectrum antivirals for deadly viruses
(Boston) – Researchers at Boston University School of Medicine (BUSM) have identified a new chemical class of compounds that have the potential to block genetically diverse viruses from replicating. The findings, published in Chemistry & Biology, could allow for the development of broad-spectrum antiviral medications to treat a number of viruses, including the highly pathogenic Ebola and Marburg viruses.
Claire Marie Filone, PhD, postdoctoral researcher at BUSM and the United States Army Medical Research Institute of Infectious Diseases (USAMRIID), is the paper’s first author and led this study under the leadership of John Connor, PhD, associate professor of microbiology at BUSM and the study’s corresponding author. John Snyder, PhD, professor of chemistry at Boston University (BU) and researchers from the Center for Chemical Methodology and Library Development at BU (CMLD-BU) were collaborators on this study.
Viruses are small disease-causing agents (pathogens) that replicate inside the cells of living organisms. A group of viruses known as nonsegmented, negative sense (NNS) ribonucleic acid (RNA) viruses cause common illnesses such as rabies, mumps and measles. These pathogens also cause more serious deadly diseases, including Ebola, Hendra and Nipah. Currently, there are no approved and effective treatments against these viruses, which, according to data from the Centers for Disease Control and Prevention, are associated with mortality rates up to 90 percent following infection.
“Identifying broad-spectrum antivirals is an important step in developing successful therapies against these and other viruses,” said Filone. The basic idea of a broad spectrum antiviral is similar to that of broad spectrum antibacterials in that they would allow one drug to serve as a common treatment for many different viral illnesses.
In this study, researchers identified a new chemical class of compounds that effectively blocked genetically diverse viruses from replicating by limiting RNA production by the virus in cell culture. These indoline alkaloid-type compounds inhibited a number of viruses from replicating, including Ebola.
“Because the production of viral RNA is the first step in successful replication, it appears that we have uncovered an Achilles heel to halt virus replication,” said Filone. “These compounds represent probes of a central virus function and a potential drug target for the development of effective broad-spectrum antivirals for a range of human pathogens.”
Research highlighted in this press release was funded in part by the National Institutes of Health’s National Institute of Allergy and Infectious Diseases (NIAID) under grant award numbers RO1 AI1096159-01 and K22AI-064606 (PI: Connor).
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(Boston) – Research from Boston University School of Medicine (BUSM) shows that improving vitamin D status by increasing its level in the blood could have a number of non-skeletal health benefits. The study, published online in PLOS ONE, reveals for the first time that improvement in the vitamin D status of healthy adults significantly impacts genes involved with a number of biologic pathways associated with cancer, cardiovascular disease (CVD), infectious diseases and autoimmune diseases. While previous studies have shown that vitamin D deficiency is associated with an increased risk for the aforementioned diseases, these results go a step further and provide direct evidence that improvement in vitamin D status plays a large role in improving immunity and lowering the risk for many diseases.
Vitamin D is unique in that it can be both ingested and synthesized by the body with sun exposure. It is then converted by both the liver and kidneys to a form that the body can use. An individuals’ level of vitamin D, or their vitamin D status, is determined by measuring the level of 25-hydroxyvitamin D in the blood. Vitamin D deficiency, which is defined as a status of less than 20 nanograms per milliliter (ng/mL) of 25-hydroxyvitamin D, can cause a number of health issues, including rickets and other musculoskeletal diseases. Recently, however, data suggests that vitamin D deficiency (<20 ng/mL) and vitamin D insufficiency (between 21-29 ng/mL) is linked to cancer, autoimmune diseases, infectious diseases, type 2 diabetes and cardiovascular disease.
The randomized, double-blind, single-site pilot trial involved eight healthy men and women with an average age of 27 who were vitamin D deficient or insufficient at the start of the trial. Three participants received 400 International Units (IUs) of vitamin D per day and five received 2,000 IUs per day for a two-month period. Samples of white blood cells (immune cells) were collected at the beginning of the two-month period and again at the end. A broad gene expression analysis was conducted on these samples and more than 22,500 genes were investigated to see if their activity increased or decreased as a result of the vitamin D intake.
At the end of the pilot, the group that received 2000 IUs achieved a vitamin D status of 34 ng/mL, which is considered sufficient, while the group that received 400 IUs achieved an insufficient status of 25 ng/mL.
The results of the gene expression analysis indicated statistically significant alterations in the activity of 291 genes. Further analysis showed that the biologic functions associated with the 291 genes are related to 160 biologic pathways linked to cancer, autoimmune diseases, infectious diseases and CVD. Examining gene response elements, or sequences of DNA bases that interact with vitamin D receptors to regulate gene expression, they also identified new genes related to vitamin D status. To ensure that their observations were accurate, the researchers looked at 12 genes whose level of expression does not change, and those genes remained stable throughout the trial period.
“This study reveals the molecular fingerprints that help explain the non-skeletal health benefits of vitamin D,” said Michael F. Holick, PhD, MD, professor of medicine, physiology and biophysics at BUSM and leading vitamin D expert who served as the study’s corresponding author. “While a larger study is necessary to confirm our observations, the data demonstrates that improving vitamin D status can have a dramatic effect on gene expression in our immune cells and may help explain the role of vitamin D in reducing the risk for CVD, cancer and other diseases.”
This research was supported by a pilot grant from the National Institutes of Health’s Clinical Translational Science Institute under grant award # UL-1-RR-25711.
To view the full article, visit http://dx.plos.org/10.1371/journal.pone.0058725.
For Immediate Release, March 18, 2013
Contact: Gina DiGravio, 617-638-8480, email@example.com
(Boston)–Boston Medical Center pediatricians Laura Johnson, MD, MPH, Jenny Radesky, MD, and Barry Zuckerman, MD, the Joel and Barbara Alpert Professor of Pediatrics at Boston University School of Medicine, have published a paper in the current issue of the journal Pediatrics that addresses how understanding the origins and goals of parenting behaviors can help pediatricians strengthen relationships with families, demonstrate cultural sensitivity, and more effectively offer guidance on the challenges of childrearing.
According to the paper, parenting goals and behavior are strongly influenced by cultural norms and expectations of adult behaviors that are valued by a particular society. They contrast “Western” cultures emphasizing individual autonomy achievement, independence, self-reliance, and self-assertiveness with many Asian, African, and Latino cultures that value interdependence: collective achievement, harmonious collaboration, and sharing. “Many parenting priorities, such as feeding practices, sleeping arrangements, and school and social success, fall somewhere along the spectrum from autonomy to interdependence and are likely affected by the parents’ cultural beliefs related to their own upbringing,” said Zuckerman. “This can result in some parenting behaviors conflicting with the beliefs of the pediatrician, as well as with policy statements from experts and professional societies based on culturally-bound empirical data, we aim to review a few examples of parenting differences that pediatricians might encounter,” he added.
The authors explain that every family is both a unique microcosm and a product of a larger cultural context. The three examples they highlight may be viewed through a cultural lens that promotes autonomy or interdependence. Importantly, these values are not dichotomous but rather exist along a spectrum co-existing sometimes changing over time.
In conclusion the authors state that by eliciting and understanding how cultural norms shape parenting behavior, including the role of extended family, and how they relate to a child’s growing autonomy and/or interdependence, pediatricians can help parents gain better insight into what they want for their child and how they address parenting challenges. This approach may encourage parents to more openly discuss their struggles with their child’s pediatrician and more readily consider their guidance and advice.
Boston University School of Medicine launches safe opioid prescribing education program for health care provider
FOR IMMEDIATE RELEASE, March 18, 2013
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(Boston) – Awarded the first of its kind funding to provide FDA-mandated opioid prescribing education, Boston University School of Medicine (BUSM) has launched a program to train health care providers how to safely and effectively manage patients with chronic pain using opioid analgesics.
With approximately 100 million Americans affected by chronic pain, the appropriate prescribing of opioids is a national concern. The FDA requires that manufacturers of extended release/long-acting (ER/LA) opioid analgesics, as part of a Risk Evaluation and Mitigation Strategy (REMS), create a fund to support comprehensive prescriber education in the safe use of these medications. BUSM was the sole grantee in the first round of funding, receiving an unrestricted award of more than $1.8 million by the manufacturers of ER/LA opioid analgesics, known as the REMS Program Companies (RPC).
Offered in collaboration with the Council of Medical Specialty Societies (CMSS) and the Federation of State Medical Boards (FSMB), BUSM’s Safe and Competent Opioid Prescribing Education (SCOPE) of Pain program is based on the FDA curriculum known as the Blueprint for Prescriber Education for Extended Release and Long- Acting Opioid(ER/LA) Analgesics.
Directed by Daniel Alford, MD, associate professor of medicine at BUSM, the program’s first phase, launched on March 1, 2013, is a three-module online educational activity. It is designed to train providers how to determine appropriateness of opioid prescribing, assess risk of misuse, and monitor patients for risk and benefits of opioid treatment for pain management. The next phases of the SCOPE of Pain Continuing Medical Education program will include conferences in ten states which, in addition to the essential curriculum, will feature state-specific policy and resource panels. These panels will be recorded and archived as part of the online educational activity. There will also be train-the trainer sessions designed to develop a national cohort of SCOPE of Pain trainers, who will deliver a series of workshops at local hospitals and community health centers around the country.
Dr. Norman Kahn, Executive Vice President and CEO of the CMSS notes that “CMSS believes education designed for the prescriber community is paramount to helping clinicians safely prescribe opioids while addressing the critical public health problem faced by opioid misuse.”
Dr. Humayun J. Chaudhry, President and CEO of the FSMB, adds that “The FSMB believes educational initiatives such as this collaboration are crucial in raising awareness with physicians of the risks opioids pose, while providing a framework to ensure physicians who prescribe opioids do so responsibly and safely.”
“We are proud to have been selected to receive the first grant for such an important education initiative,” says Barry Manuel, MD, Associate Dean for Continuing Medical Education and Professor of Surgery at BUSM. “It is a testament to the quality and the comprehensive nature of the professional medical education provide by Boston University School of Medicine.”
ABOUT BUSM Continuing Medical Education (CME)
Boston University School of Medicine (BUSM) has been sponsoring Continuing Medical Education (CME) activities since 1973. In 2012, BUSM was reaccredited with Commendation by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians and reaccredited with Distinction by the American Nurses Credentialing Center (ANCC) as a provider of continuing nursing education. Within the last five years BUSM has educated more than 179,000 health care professionals.
Founded in 1965, CMSS was created to provide an independent forum for the discussion by medical specialists of issues of national interest and mutual concern. Today, CMSS represents thirty-nine societies with an aggregate membership of 700,000 US physicians. Its main purpose is to provide a forum for collaboration to influence policy, medical education and accreditation from a broad, cross-specialty perspective. CMSS is the unified voice for specialty societies established to improve the United States’ healthcare system and health of the public. For more information, visit CMSS at www.cmss.org.
The Federation of State Medical Boards (FSMB) is a national non-profit organization representing the 70 medical and osteopathic boards of the United States and its territories. The FSMB leads by promoting excellence in medical practice, licensure, and regulation as the national resource and voice on behalf of state medical and osteopathic boards in their protection of the public. www.fsmb.org
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(Boston) – Researchers at Boston University School of Medicine (BUSM) have, for the first time, identified a specific group of cells in the brainstem whose activation during rapid eye movement (REM) sleep is critical for the regulation of emotional memory processing. The findings, published in the Journal of Neuroscience, could help lead to the development of effective behavioral and pharmacological therapies to treat anxiety disorders, such as post-traumatic stress disorder, phobias and panic attacks.
There are two main stages of sleep – REM and non-REM – and both are necessary to maintain health and to regulate multiple memory systems, including emotional memory. During non-REM sleep, the body repairs tissue, regenerates cells and improves the function of the body’s immune system. During REM sleep, the brain becomes more active and the muscles of the body become paralyzed. Additionally, dreaming generally occurs during REM sleep, as well as physiological events including saccadic eye movements and rapid fluctuations of respiration, heart rate and body temperature. One particular physiological event, which is a hallmark sign of REM sleep, is the appearance of phasic pontine waves (P-waves). The P-wave is a unique brain wave generated by the activation of a group of glutamatergic cells in a specific region within the brainstem called the pons.
Memories of fearful experiences can lead to enduring alterations in emotion and behavior and sleep plays a natural emotional regulatory role after stressful and traumatic events. Persistence of sleep disturbances, particularly of REM sleep, is predictive of developing symptoms of anxiety disorders. A core symptom of these disorders frequently reported by patients is the persistence of fear-provoking memories that they are unable to extinguish. Presently, exposure therapy, which involves controlled re-exposure to the original fearful experience, is considered one of the most effective evidence-based treatments for anxiety disorders. Exposure therapy produces a new memory, called an extinction memory, to coexist and compete with the fearful memory when the fearful cue/context is re-encountered.
The strength of the extinction memory determines the efficacy of exposure therapy. A demonstrated prerequisite for the successful development of an extinction memory is adequate sleep, particularly REM sleep, after exposure therapy. However, adequate or increased sleep alone does not universally guarantee its therapeutic efficacy.
“Given the inconsistency and unpredictability of exposure therapy, we are working to identify which process(es) during REM sleep dictate the success or failure of exposure therapy,” said Subimal Datta, PhD, director and principle investigator at the Laboratory of Sleep and Cognitive Neuroscience at BUSM who served as the study’s lead author.
The researchers used contextual fear extinction training, which works to turn off the conditioned fear, to study which brain mechanisms play a role in the success of exposure therapy. The study results showed that fear extinction training increased REM sleep. Surprisingly, however, only 57 percent of subjects retained fear extinction memory, meaning that they did not experience the fear, after 24 hours. There was a tremendous increase of phasic P-wave activity among those subjects. In 43 percent of subjects, however, the wave activity was absent and they failed to retain fear extinction memory, meaning that they re-experienced fear.
“The study results provide direct evidence that the activation of phasic P-wave activity within the brainstem, in conjunction with exposure therapy, is critical for the development of long-term retention of fear extinction memory,” said Datta, who also is a professor of psychiatry and neurology at BUSM. In addition, the study indicates the important role that the brainstem plays in regulating emotional memory.
Future research will explore how to activate this mechanism in order to help facilitate the development of new potential pharmacological treatments that will complement exposure therapy to better treat anxiety and other psychological disorders.
According to the National Institute of Mental Health, anxiety disorders affect approximately 40 million American adults each year. While anxiety can sometimes be a normal and beneficial reaction to stress, some people experience excessive anxiety that they are unable to control, which can negatively impact their day to day life.
Research included in this study was supported in part by the National Institutes of Health’s National Institute of Mental Health under grant award number MH 59839 (PI: Datta) and the National Institute of Neurological Disorders and Stroke under grant award number NS 34004 (PI: Datta).
International consortium discovers seven new genomic regions associated with age-related macular degeneration
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(Boston) – An international group of researchers has discovered seven new regions of the human genome—called loci—that are associated with increased risk of age-related macular degeneration (AMD), a leading cause of blindness. The AMD Gene Consortium, a network of international investigators representing 18 research groups, also confirmed 12 loci identified in previous studies. The study, which is published online in Nature Genetics and represents the most comprehensive genome-wide analysis of genetic variations associated with AMD, was supported by the National Eye Institute (NEI), a part of the National Institutes of Health.
“This compelling analysis by the AMD Gene Consortium demonstrates the enormous value of effective collaboration,” said NEI Director Paul A. Sieving, MD, PhD. “Combining data from multiple studies, this international effort provides insight into the molecular basis of AMD, which will help researchers search for causes of the disease and will inform future development of new diagnostic and treatment strategies.”
Since the 2005 discovery that certain variations in the gene for complement factor H—a component of the immune system—are associated with major risk for AMD, research groups around the world have conducted genome-wide association studies to identify other loci that affect AMD risk. These studies were made possible by tools developed through the Human Genome Project, which mapped human genes, and related projects, such the International HapMap Project, which identified common patterns of genetic variation within the human genome.
The AMD Gene Consortium combined data from 18 research groups to increase the power of prior analyses. The current analysis identified seven new loci near genes. As with the previously discovered 12 loci, these seven loci are scattered throughout the genome on many different chromosomes.
“A large number of samples was needed to detect additional genetic variants that have small but significant influences on a person’s disease risk,” said Hemin Chin, PhD, NEI associate director for ophthalmic genetics, who assembled the consortium and helped coordinate the study. “By cataloging genetic variations associated with AMD, scientists are better equipped to target corresponding biological pathways and study how they might interact and change with age or other factors, such as smoking.”
The consortium’s analysis included data from more than 17,100 people with the most advanced and severe forms of AMD, which were compared to data from more than 60,000 people without AMD. The 19 loci that were found to be associated with AMD implicate a variety of biological functions, including regulation of the immune system, maintenance of cellular structure, growth and permeability of blood vessels, lipid metabolism and atherosclerosis.
As with other common diseases, such as type 2 diabetes, an individual person’s risk for getting AMD is likely determined not by one but many genes. Further comprehensive DNA analysis of the areas around the 19 loci identified by the AMD Gene Consortium could turn up undiscovered rare genetic variants with a disproportionately large effect on AMD risk. Discovery of such genes could greatly advance scientists’ understanding of AMD pathogenesis and their quest for more effective treatments.
AMD affects the macula, a region of the retina responsible for central vision. The retina is the layer of light-sensitive tissue in the back of the eye that houses rod and cone photoreceptor cells. Compared with the rest of the retina, the macula is especially dense with cone photoreceptors and is what humans rely on for tasks that require sharp vision, such as reading, driving and recognizing faces. As AMD progresses, such tasks become more difficult and eventually impossible. Some kinds of AMD are treatable if detected early, but no cure exists. An estimated 2 million Americans have AMD.
Scientists have shown that age, diet, and smoking influence a person’s risk of developing AMD. Genetics also plays a strong role. AMD often runs in families and is more common among certain ethnicities, such as Asians and people of European descent. AMD typically presents later in life, but identifying genetic variants associated with the disease, all of which are present at birth, could help future studies determine how to stop the disease from progressing and even from occurring.
“Genetic research allows us to piece together disease pathways that may have their starting point much earlier in life,” said Farrer. “These newly identified genes, individually and collectively, provide novel clues and targets to evaluate for their potential therapeutic benefits.”
For more information about AMD, visit http://www.nei.nih.gov/health/maculardegen/index.asp.
Goncalo Abecasis, DPhil, from the University of Michigan; Iris Heid, PhD, from the University of Regensburg, Germany; and Jonathan L. Haines, PhD, from Vanderbilt University are the study’s other co-lead authors. Funding for the research conducted at BUSM for this study was provided in part by the National Institutes of Health under grant award number R01-EY014458 and the Edward N. & Della L. Thome Memorial Foundation.