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National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) - The Team

 

 

 

 

 

The GenTAC team consisted of eight clinical centers, an imaging core, a phenotyping core, and a data coordinating center. Click the links below to view information about each member organization

 

 

 

 

NHLBI

Headshot of Dr. Tolunay
H. Eser Tolunay 
Project Officer

Dr. Tolunay is the Deputy Branch Chief of the Vascular Biology and Hypertension Branch, in the Division of Cardiovascular Sciences at National Heart, Lung, and Blood Institute (NHLBI). She oversees programs on integrated basic, translational, and clinical research on etiology, pathogenesis, prevention, diagnosis, and treatment of vascular diseases and hypertension. Her own portfolio focuses on basic, translational, and clinical research on aortic aneurysms, and the biology and diseases of the lymphatic system. She chairs the trans-NIH Coordinating Committee on Lymphatic Research. Her other trans-NIH activities include the role of air pollution on cardiovascular disease. Dr. Tolunay began her research career at NHLBI as a Fogarty Fellow, and later as a Staff Fellow. In 1985, she joined the Monsanto Company in St. Louis to conduct pharmaceutical discovery research. Her research involved atherosclerosis, thrombosis and homeostasis, hypertension, and inflammation. She returned to NHLBI in 2001. Dr. Tolunay earned her Bachelor’s degree in Chemistry at Robert College in Turkey, and her PhD in Biochemistry at Georgetown University in Washington, DC.

Portrait of Patrice Desvigne-Nickens, M.D.

Patrice Desvigne-Nickens
Deputy Project Officer 

Dr. Nickens is a program director in the Heart Failure and Arrhythmias Branch in the Division of Cardiovascular Sciences in the National Heart, Lung, and Blood Institute. Dr. Nickens is responsible for the scientific development and fiscal management of relevant research programs focused on prevention, recognition, and treatment in cardiovascular medicine. Her research activity uses many research mechanisms: investigator-initiated projects, center grants, contract and grant solicitations, and small business and conference grants to support basic and clinical investigations including clinical trials. Her portfolio includes many aspects of heart failure and arrhythmia research. Dr. Nickens is responsible for initiative development, coordination of workshops and meetings, and all reports within these scientific areas prepared for the Division and Institute Directors. Dr. Nickens serves as project officer on various trials and is a liaison to the American Heart Association Executive Council on Clinical Cardiology.

Headshot of Paula Schum

Paula Schum
Program Manager

Paula Schum is a Clinical Trials Specialist for the Vascular Biology and Hypertension Branch (VBHB), in the Division of Cardiovascular Sciences at the National Heart, Lung and Blood Institute (NHLBI). Ms. Schum assists the VBHB with the clinical trial oversight, monitoring, and tracking. Ms. Schum works closely with Drs. Tolunay and Dr. Desvigne-Nickens to oversee GenTAC Registry activities. Ms. Schum earned her Master’s degree in nursing specializing in Clinical Research Administration from the George Washington University and has Bachelor’s degree in Information Systems Management from the University of Maryland. Ms. Schum began her career with NIH in 2005 as a Clinical Staff nurse for Hematology/Oncology/Bone Marrow Transplant unit, and later became a Clinical Research Nurse Specialist for the National Heart Lung and Blood Institute and the Center for Human Immunology.

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Clinical Centers

 

Baylor College of Medicine

Baylor College of Medicine (BCM) and its seven affiliated teaching hospitals enjoy international reputations for medical excellence. BCM has been a primary partner with the University of Texas Medical School at Houston (UTMS) in the GenTAC Registry. BCM physicians, including co-investigator Dr. Scott LeMaire, see more than 135,000 inpatients and more than 1.7 million outpatients each year in affiliated hospitals and clinics. Patients are admitted from all 50 states and from around the world.

Scott LeMaire Headshot

Scott LeMaire, MD
Principal Investigator

Scott LeMaire, MD, is professor and director of research in the Division of Cardiothoracic Surgery in the Michael E. DeBakey Department of Surgery at BCM and will serve as the center’s co-investigator for the GenTAC Registry. After completing cardiothoracic surgery training at BCM, he joined the practice of Dr. Joseph Coselli, which is based at the Texas Heart Institute at St. Luke’s Episcopal Hospital. This practice focuses on the surgical treatment of thoracic aortic aneurysms and dissections, including those related to genetic disorders such as Marfan syndrome, Loeys-Dietz syndrome, familial thoracic aortic aneurysms and dissections, and bicuspid aortic valve. Dr. LeMaire and his colleagues perform open and endovascular aortic operations in approximately 400 patients every year; most of these patients are enrolled in research studies that focus on the outcomes after aortic repair, strategies for preventing perioperative complications, genetic factors related to aortic disease, or the pathobiology of aortic wall degeneration. Dr. LeMaire has served as a co-investigator in GenTAC since its inception and collaborates extensively with Dr. Milewicz, the PI of the UTMS site. Dr. LeMaire is the PI for “Genetics of Thoracic Aortic Aneurysms and Dissection,” part of the Specialized Center of Clinically Oriented Research (SCCOR) in Thoracic Aortic Aneurysms and Dissection led by Dr. Milewicz. Dr. LeMaire also directs the Thoracic Aortic Disease Tissue Bank at BCM, which houses samples and corresponding phenotypic data from more than 2,900 patients with thoracic aortic aneurysms or dissections.Scott LeMaire, MD, is professor and director of research in the Division of Cardiothoracic Surgery in the Michael E. DeBakey Department of Surgery at BCM and will serve as the center’s co-investigator for the GenTAC Registry. After completing cardiothoracic surgery training at BCM, he joined the practice of Dr. Joseph Coselli, which is based at the Texas Heart Institute at St. Luke’s Episcopal Hospital. This practice focuses on the surgical treatment of thoracic aortic aneurysms and dissections, including those related to genetic disorders such as Marfan syndrome, Loeys-Dietz syndrome, familial thoracic aortic aneurysms and dissections, and bicuspid aortic valve. Dr. LeMaire and his colleagues perform open and endovascular aortic operations in approximately 400 patients every year; most of these patients are enrolled in research studies that focus on the outcomes after aortic repair, strategies for preventing perioperative complications, genetic factors related to aortic disease, or the pathobiology of aortic wall degeneration. Dr. LeMaire has served as a co-investigator in GenTAC since its inception and collaborates extensively with Dr. Milewicz, the PI of the UTMS site. Dr. LeMaire is the PI for “Genetics of Thoracic Aortic Aneurysms and Dissection,” part of the Specialized Center of Clinically Oriented Research (SCCOR) in Thoracic Aortic Aneurysms and Dissection led by Dr. Milewicz. Dr. LeMaire also directs the Thoracic Aortic Disease Tissue Bank at BCM, which houses samples and corresponding phenotypic data from more than 2,900 patients with thoracic aortic aneurysms or dissections.

Irina Volguina Headshot

Irina Volguina, PhD
Project Manager

Irina Volguina, PhD, is a project manager at the Division of Cardiothoracic Surgery in the Michael E. DeBakey Department of Surgery at BCM. Shortly after obtaining her doctoral degree in Russia, Dr. Volguina moved to Houston and started working on the multicenter research projects at BCM. Dr. Volguina has dedicated her efforts to the development and implementation of the Aortic Valve Operative Outcomes in Marfan Patients (AVOOMP) registry study. AVOOMP is the only prospective research study designed to evaluate and compare the outcomes of valve-sparing and valve-replacing aortic root operations. Dr. Volguina joined the GenTAC team when the registry at BCM was established in 2008. She coordinates the efforts of the BCM GenTAC team, which includes three other members at the BCM Division of Cardiothoracic Surgery. In addition, Dr. Volguina works closely with and supports the UTMS team in their study activities at the Texas Children’s Hospital. Dr. Volguina has been involved in research on patients with connective tissue disorders since 2003. She earned her master’s degree in epidemiology from the University of Texas School of Public Health and is a member of the National Marfan Foundation.

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Johns Hopkins University School of Medicine

From the 1889 opening of The Johns Hopkins Hospital, to the opening of the School of Medicine four years later, there emerged the concept of combining research, teaching, and patient care. This model, the first of its kind, would lead to a national and international reputation for excellence and discovery.

Today, Johns Hopkins uses one overarching name—Johns Hopkins Medicine—to identify its entire medical enterprise. This $5 billion system unites the physicians and scientists of the Johns Hopkins University School of Medicine with the health professionals and facilities that make up the broad, integrated Johns Hopkins Health System.

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William Ravekes, MD
Principal Investigator

William Ravekes, MD, has served as an investigator on GenTAC since its inception in 2006. Dr. Ravekes is an expert in echocardiography in congenital heart disease and fetal cardiology and completed dedicated echocardiography-specific training in congenital heart disease at Children’s Hospital Boston (Harvard) and Texas Children’s Hospital. Dr. Ravekes has served as director of the JHU Pediatric Echocardiography Laboratory clinical education program since 2005. He has authored more than 20 peer-reviewed manuscripts and chapters and has served as a reviewer for many journals. He is serving as the site investigator for echocardiography for an ongoing NIH-sponsored trial (HL-68290) of losartan versus beta-blocker therapy in MFS.

Harry Dietz Headshot

Harry C. Dietz, MD
Investigator

Harry C. Dietz, MD, is the Victor A. McKusick Professor of Genetics and Medicine in the Institute of Genetic Medicine at JHU. Dr. Dietz has served as a co-investigator on GenTAC since its inception in 2006. Dr. Dietz trained as a pediatric cardiologist and geneticist; he is a professor of pediatrics, medicine, and molecular biology and genetics and director of the William S. Smilow Center for Marfan Syndrome Research. He runs a multidisciplinary clinic for the diagnosis and management of individuals and families with heritable disorders of connective tissue that affect the aorta. He is also a member and immediate past chair of the Professional Advisory Board of the National Marfan Foundation. Dr. Dietz runs a large basic science research laboratory focused on the elucidation of the molecular basis of inherited forms of cardiovascular disease, with an emphasis on failed homeostasis of the aortic wall. His work was responsible for demonstrating that mutations in the fibrillin-1 gene (FBN1) cause MFS. His laboratory also provided the first demonstration that many manifestations of MFS are caused by altered regulation of TGFβ activation and signaling. Dr. Dietz has pioneered the use of mouse models to develop and test novel therapeutic strategies in the MFS. He also performs research on the etiology of BAV with ascending aortic enlargement. His group recently described an entirely novel and common aortic aneurysm syndrome (Loeys-Dietz syndrome) that is characterized by atypically aggressive vascular disease that requires individualized management. They also showed that mutations in either of the two genes that encode the TGFβ receptor are responsible for Loeys-Dietz syndrome, providing the basis for the development of molecular diagnostic tests. Dr. Dietz’s laboratory has used GenTAC samples to examine circulating levels of TGFβ demonstrating corrections with severity of aortic root dilation. The associated paper for this study was considered one of the top 10 most influential papers of 2009. Dr. Dietz received the Antoine Marfan Award in 1994.

Kathryn Holmes, MD
Investigator

Dr. Kathryn Holmes is an expert in echocardiography in patients with congenital heart disease and fetal cardiology. She completed general pediatric cardiology fellowship and dedicated echocardiography specific training in congenital heart disease at Johns Hopkins. She is currently working with Dr. Tammy Brady on evaluation of heart health in children with essential hypertension. Dr. Holmes is intimately involved in the preoperative evaluation and postoperative assessment of children with connective tissue disorders that require cardiovascular surgery. She has extensive experience with enrolling and managing clinical studies as well as experiencing with data collection and registries and working with research coordinators. She is also a collaborator on an FDA sponsored Phase II study on the use of Digitoxin to treat cystic fibrosis.

Margaret Li
Research Coordinator

Margaret Li is the research coordinator for JHU. She is a graduate of University of Maryland, College Park and completed the Medical Science Preparatory Program at Drexel College of Medicine. Ms. Li was involved with Pediatric Cardiology as a volunteer since 2013 and joined the team July 2014. She is responsible for data extraction and follow-up with enrolled patients. Ms. Li is also involved in other research projects at JHU including COAST, COAST II, and PARCS.

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The National Institute on Aging (NIA)

The National Institute on Aging (NIA) maintains a cutting-edge clinical research unit at Harbor Hospital, Baltimore. Under the direction of Dr. Nazli McDonnell at the NIA clinical unit, more than 800 patients from around the world have been enrolled in a natural history study of hereditary disorders of connective tissue. The patients enrolled in longitudinal follow-up receive a comprehensive 2-day evaluation, including genetic testing, medical examinations, and cardiovascular imaging studies. Many of these patients meet the eligibility criteria for and are recruited into the GenTAC Registry during their visit to the NIA facility.

Nazli B. McDonnell, MD, PhD
Principal Investigator

Nazli B. McDonnell, MD, PhD, has been an NIA clinician in medical genetics since 2003. Her research is focused on clinical and molecular investigations of hereditary disorders of connective tissue, in particular EDS, Marfan syndrome, Stickler syndrome, hereditary aneurysm syndromes, and fibromuscular dysplasia. Dr. McDonnell is investigating the natural history of these disorders, and studying genotype/phenotype correlations and molecular and cellular mechanisms and exploring treatment strategies using plasma and tissue samples from affected patients. In collaboration with Dr. Mark Talan at the NIA Laboratory of Cardiovascular Science, Dr. McDonnell has been working with a mouse model of vascular EDS to discover and assess treatment strategies. She is also investigating the role of tenascin X mutations and deletions in hypermobile EDS and congenital adrenal hyperplasia together with Dr. Deborah Merke of the Eunice Kennedy Shriver National Institute of Child Health and Human Development.

Ben Griswold
Study Coordinator

Benjamin F. Griswold is the clinical research coordinator with the NIA GenTAC site in Baltimore. Mr. Griswold has a bachelor’s degree in biochemistry from Ursinus College, Pennsylvania. He joined NIA as a postbaccalaureate research training award recipient in 2005 in Dr. Clair Francomano’s group. He subsequently joined Dr. Nazli McDonnell’s lab and continued to work on projects related to hereditary disorders of connective tissue, initially focusing on Stickler syndrome and Fibromuscular Dysplasia of the Arteries. His current research interest is Vascular form of Ehlers-Danlos Syndrome. Mr. Griswold is responsible for all aspects of enrollment to GenTAC, including recruitment, sample collection, and completion of forms.

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Oregon Health & Science University

Oregon Health & Science University (OHSU) provides an optimal recruitment environment for the GenTAC Registry. Patients are recruited from clinics at both OHSU and Doernbecher Children’s Hospital (DCH). The OHSU Division of Cardiothoracic Surgery has significant experience and expertise in the diagnosis, treatment, and management of thoracic aortic aneurismal disease. The Division functions as a regional resource for the care of these patients from across Oregon. OHSU also has an active Adult Congenital Heart Disease (ACHD) clinic, where many eligible adult patients are followed for their cardiac care.

Cheryl Maslen Headshot

Cheryl Maslen, PhD
Principal Investigator

Cheryl Maslen, PhD, the PI for OHSU, is a professor of cardiovascular medicine and molecular and medical genetics and the associate director of the OHSU Heart Research Center. She specializes in research on the genetic basis of cardiovascular defects. Dr. Maslen is trained in molecular and medical genetics and in extracellular matrix biochemistry. Her training includes extensive clinical experience in genetic evaluation of patients and family history. Her study of MFS and other genetic disorders of the cardiovascular system started when she was a postdoctoral fellow responsible for cloning the gene FBN1; she played a key role in demonstrating that FBN1 is the MFS gene. As an independent researcher, she has made significant contributions in understanding the molecular genetic basis of MFS and related diseases. Her work has expanded into the study of the genetic basis of other congenital cardiovascular defects, and she currently directs several patient-oriented studies with the goal of identifying the genetic risk factors for atrioventricular septal defects (AVSD) and other forms of congenital heart disease. Dr. Maslen’s laboratory identified the first known susceptibility gene for AVSD and continues to investigate the role of this protein in cardiovascular development. Dr. Maslen has significant experience in all aspects of medical genetics, population-based genetic studies, development of registries, extracellular matrix biology, and the molecular genetic basis of cardiovascular disease.

Howard Song Headshot

Howard Song, MD, PhD
Investigator

Howard Song, MD, PhD, is an associate professor on the faculty of the Division of Cardiothoracic Surgery at OHSU. He has a special interest in the diagnosis and surgical treatment of thoracic aortic aneurysms and serves as the surgery director of OHSU’s Thoracic Aorta Program. Dr. Song performs complex repairs and replacements of the aortic root and arch, including the Bentall procedure, aortic valve sparing procedures, aortic homograft root replacements, and the Ross procedure. He has been an active participant in the Society of Thoracic Surgeons Adult Cardiac Database. He conducts and publishes outcomes studies on patients undergoing cardiovascular surgery. He also directs basic research in the laboratory of the Division of Cardiothoracic Surgery, focusing on the use of bioengineered vascular conduits to reduce neointimal hyperplasia formation.

Michael Silberbach Headshot

Michael Silberbach, MD
Investigator

Michael Silberbach, MD, professor of pediatric cardiology, is a pediatric cardiologist with a special interest in problems of the aorta in Turner syndrome. Dr. Silberbach routinely cares for pediatric patients with MFS, familial aortic aneurysm, and other congenital aortic diseases. In addition, he specializes in noninvasive imaging of the heart and related structures. He is the director of the Congenital Heart Magnetic Resonance Imaging Program at OHSU. In that capacity, he routinely performs MRI studies on infants and children with aortic disease. He also attends in the pediatric cardiac echocardiogram laboratory. He is a member of the guidelines committee for cardiovascular health in Turner syndrome and is a co-author of the committee’s most recently published recommendations. He is the author of a book chapter on aortic dissection in Turner syndrome, a member of the Health Advisory Board of the Turner Syndrome Society of the United States, and regularly addresses audiences on the issue of aortic risks in Turner syndrome. Dr. Silberbach has established the International Turner Syndrome Aortic Dissection Registry, and he and his team have performed echocardiograms on more than 500 individuals of all ages with Turner syndrome.

Alisha Berry
Study Coordinator

Alisha Berry is a member of a team of Research Coordinators for GenTAC assisting the Cardiovascular Medicine Division at OHSU. Alisha began working in clinical research in 2012 as a study coordinator at the Oregon Clinical and Translational Research Institute at OHSU. Alisha has worked on several research projects over the years and is excited to be involved with the GenTAC project. She and her colleagues are responsible for recruiting and enrolling patients, coordinating sample submission, aortic tissue collection of OHSU/DCH GenTAC enrollees, and collecting/reviewing participant enrollment and follow-up medical information. Alisha and her colleagues are also GenTAC coordinators for the Turner Syndrome Society of the United States (TSSUS), attending TSSUS annual meetings to enroll affected girls and women and collect follow-up information of current Registry participants. She is in the process of applying to medical schools and is currently hoping to pursue a specialty in pediatric endocrinology.

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Queen's Medical Center

The Queen's Medical Center (QMC) is a private, nonprofit, acute medical care facility in Honolulu, Hawai’i. As the leading medical referral center in the Pacific Basin, QMC offers a broad range of primary and specialized care services. With the latest technologies in interventional cardiology and cardiac surgery, Queen's Heart at QMC is the most comprehensive program in Hawai’i for the diagnosis and treatment of patients with thoracic aortic disease and its complications.

Ralph Shohet Headshot

Ralph V. Shohet, MD
Principal Investigator

Ralph V. Shohet, MD, is the principal investigator (PI) for GenTAC at QMC. Dr. Shohet is a cardiologist at QMC and the director of cardiovascular research at the John A. Burns School of Medicine at the University of Hawai’i (UH). He is also the PI of the NHLBI-funded Cardiovascular Center of Biomedical Research Excellence at UH. Board-certified in internal medicine and cardiovascular disease, Dr. Shohet has spent his career forging bench-to-bedside links. Using molecular genetic tools, he has investigated signaling pathways in the heart that contribute to hypertrophy, heart failure, and the response to hypoxia. Dr. Shohet has extensive experience with the evaluation of mouse models of cardiovascular disease, including MRI and echocardiography for characterization of cardiac function and mass. Projects in Dr. Shohet’s laboratory focus on cardiovascular gene regulation, and he has helped to develop a novel gene therapy technology using sonographic disruption of perfusion microbubbles.

Fiona Kennedy, RN, BSN
Research Nurse Coordinato

Fiona Kennedy, RN, BSN is the Research Nurse Coordinator at QMC. She has been a Registered Nurse since 1986 and received her Bachelor of Science Degree in Nursing from the University in Victoria, BC, Canada. She has been a research coordinator for the last 16 years. Her experiences include national and international studies focusing on women and children’s health, childhood diabetes, and cardiology. She is responsible for all aspects of the GenTAC study at QMC including recruitment, patient visits, collection of data/samples, data entry, and packing/shipping. Ms. Kennedy is the primary contact person for referrals and patients interested in participation.

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The University of Pennsylvania

Reed Peyritz Headshot

Reed E. Pyeritz, MD, PhD
GenTAC Principal Investigator

Reed E. Pyeritz, MD, PhD, is the current PI for the GenTAC PENN site. Dr. Pyeritz is chief of the Division of Medical Genetics at HUP and professor of medicine and genetics at the University of Pennsylvania. He is board certified in internal medicine and clinical genetics and is an elected member of the American Society of Clinical Investigation and the Association of American Physicians. He founded the National Marfan Foundation and continues to serve on its Professional Advisory Board. He chairs the Medical Advisory Board of the Canadian Marfan Association. Dr. Pyeritz was one of the founders of the American College of Medical Genetics and became its second president. Dr. Pyeritz is the co-editor of Principles and Practice of Medical Genetics, currently in its fifth edition. His entire academic focus has been on hereditary disorders that affect the cardiovascular system, especially the aorta. During the 30 years he has been studying MFS, life expectancy has increased from four to seven decades. Much of Dr. Pyeritz’s more than 400 peer-reviewed articles, reviews, and chapters in textbooks deal with MFS; he also has published a number of articles on clinical and translational research about other hereditary disorders affecting the aorta. In his outpatient clinic, Dr. Pyeritz routinely sees patients with MFS, various types of EDS, Loeys-Dietz syndrome, Turner syndrome, Shprintzen-Goldberg syndrome, familial aortic dissection and aneurysm, and BAV with aortic dilatation. In addition, he writes or co-writes the chapters on the genetics of cardiovascular disease and MFS in the leading textbooks of medicine, cardiology, and genetics (e.g., Cecil; Braunwald; Topol; Emery and Rimoin). Dr. Pyeritz is the University of Pennsylvania PI for the International Registry of Acute Aortic Dissection.

Joseph Bavaria Headshot

Joseph Bavaria, MD 
Investigator

Joseph Bavaria, MD, is the vice chief, Division of Cardiothoracic Surgery and professor of surgery at HUP and serves as a co-investigator for GenTAC. He is the director of HUP’s Complex Aortic Surgery Program, which is a multidisciplinary program encompassing all aspects of aortic disease, including thoracic aortic reconstruction. His primary interests include thoracic aortic surgery and, more broadly, cardio-aortic surgery. This includes aortic dissection; aortic root and ascending aortic reconstruction; aortic arch surgery; and the circulation management necessary for successful aortic arch clinical outcomes. Each year, Dr. Bavaria’s thoracic aortic surgery program at the University of Pennsylvania performs more than 300 reconstructive procedures and manages more than 1,500 patients in the Aortic Surgery Clinic. He leads an active cardio-aortic clinical research group and is both the national and the institutional primary investigator in more than 15 industry-sponsored U.S Food and Drug Administration Investigational Device Exemptions Phase I, II, and III trials.

Rita Milewski Headshot

Karianna (Rita) Milewski, RPh, MD, PhD
Investigator

Karianna (Rita) Milewski, RPh, MD, PhD is a clinical assistant professor of surgery in the Division of Cardiothoracic Surgery at the University of Pennsylvania School of Medicine and serves as a co-investigator for GenTAC. She completed her PhD in molecular genetics, an Aortic Surgery Fellowship at HUP, and two business certificates for business essentials and entrepreneurship which provided her with the skills necessary to manage a laboratory. Dr. Milewski’s main areas of expertise are in aortic surgery, including endovascular and percutaneous valves. She also supervises both heart and lung organ procurements at HUP. She is currently conducting both clinical and basic science aortic research. Dr. Milewski is initiating a Translational Center for Aortic Diagnosis and Therapeutic Intervention.

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Weill Cornell Medical College of Cornell University

Weill Cornell Medical College and its affiliated New York Presbyterian Hospital are internationally known for their primary care of patients with aortic diseases and for their excellence as a major tertiary care referral center for these conditions. At Weill Cornell-New York Presbyterian Hospital, cardiologists see more than 100 new patients per year with Marfan syndrome (MFS) and other genetic disorders of the aorta, nearly half of whom are women. New patients have a diverse ethnic distribution paralleling that of the broad New York metropolitan area. Cardiothoracic surgeons operate on more than 100 patients per year with aortic disease with similar gender and ethnic distributions. Patients with genetic disorders and thoracic aortic aneurysm and dissection (TAAD) are seen in the hospital’s cardiology, genetic, and cardiac surgery offices on a daily basis, and these clinics will be the focus of recruitment by the study coordinator/genetic counselor.

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Richard Devereux, MD 
Principal Investigator

Richard Devereux, MD, professor of medicine at Weill Cornell Medical College, is director of the Adult Echocardiography Laboratory. Dr. Devereux serves as principal investigator for the GenTAC Registry at Cornell. He has a major research interest in genetic disorders of cardiovascular connective tissues diseases, in addition to extensive investigations of cardiac and vascular effects of hypertension, diabetes, and obesity; ventriculo-vascular coupling; and echocardiographic and electrocardiographic methodology. His research has been published in peer-reviewed journals and has received NIH funding from 1979 through 2016. Dr. Devereux is internationally recognized for his contributions to the understanding of cardiovascular connective tissue diseases, including establishing the heritability, clinical features, and prognostic implications of mitral valve prolapse; developing methods used worldwide for recognition of aortic enlargement; clarifying cardiac features of MFS; and examining the prevalence and associated features of aortic dilatation and aortic regurgitation in a variety of populations. Dr. Devereux is an author of the current standard diagnostic criteria for MFS—“revised Ghent” nosology—published in the Journal of Medical Genetics (2010). He is a longtime member and former chair of the Professional Advisory Board of the National Marfan Foundation and served on the Epidemiology and Disease Control Study Section for 8 years, including 2 years as chair. He serves on the editorial boards of six journals and chairs the Monitoring Board of the Multi-Ethnic Society of Atherosclerosis. Dr. Devereux’s laboratory participates in several NHLBI-funded studies of genetic epidemiology, providing ultrasonically derived cardiac or arterial phenotypes in nearly 15,000 individuals for the Strong Heart Study, HyperGEN, GOCADAN, Family Blood Pressure Program, and the Strong Heart Family Study.

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Jonathan W. Weinsaft, MD
Investigator

Jonathan W. Weinsaft, MD, is an associate professor of medicine at Weill Cornell Medical College, where he directs the cardiac magnetic resonance imaging program. He has served as co-investigator for GenTAC since its inception, and he will continue in this role. Dr. Weinsaft has an established research focus on novel cardiovascular imaging methods and has published more than 50 manuscripts related to cardiovascular imaging in journals such as the Journal of the American College of Cardiology, Journal of the American College of Cardiology: Cardiovascular Imaging, Radiology, Journal of Hypertension, and Circulation: Cardiovascular Imaging. He has served as an external peer reviewer for AHA/ACC consensus CT guidelines and has been an invited speaker at national and international scientific conferences, including the American College of Cardiology and the Society for Cardiovascular Magnetic Resonance Imaging. His investigation in the area of cardiovascular imaging is internationally recognized, and he has been awarded both the AHA Laennec Society Young Clinician Award and the Interurban Clinical Club Sir William Osler Young Investigator Award. Dr. Weinsaft’s imaging research includes developmental imaging approaches for quantification of aortic remodeling and identification of novel indices for predicting clinical outcomes for patients with genetically mediated aortic aneurysms.

Mary Roman Headshot

Mary J. Roman, MD 
Investigator

Mary J. Roman, MD, is professor of medicine at Weill Cornell Medical College. She was a leading contributor of patients to the initial GenTAC Registry and became a co-investigator in 2010. She has had continuous NIH funding of her research since 1990. Her clinical areas of expertise include genetically triggered aortic aneurysms, complex valvular heart disease, and cardiovascular involvement in chronic inflammatory diseases. Her recent research has focused on premature vascular aging (both atherosclerosis and arteriosclerosis) in chronic inflammatory diseases. Her work has documented the importance of chronic inflammation in directly causing premature atherosclerosis, vascular stiffening, and ventricular hypertrophy. These findings are redirecting research to find safe and effective treatments to limit cardiovascular disease, in addition to traditional rheumatologic manifestations. In another area of active research, using a novel method to noninvasively measure central aortic blood pressure in NIH-funded population-based studies, she has documented the greater importance of central blood pressure in predicting cardiovascular disease compared to brachial blood pressure. This observation may influence the ways in which hypertension is diagnosed and treated. Dr. Roman is also the principal investigator at Cornell for the Pediatric Heart Network treatment trial in children and adolescents with Marfan syndrome. In addition, she serves on the board of directors of the National Marfan Foundation. Her research has been published in the New England Journal of Medicine, Journal of the American Medical Association, Annals of Internal Medicine, Circulation, Hypertension, and Arteriosclerosis, Thrombosis, and Vascular Biology. She has co-authored important consensus guidelines for the American Society of Echocardiography. She also served on the editorial boards of Hypertension, Journal of Hypertension, and Arthritis and Rheumatism.

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Grace Malonga, MPH
Clinical Research Coordinator

Grace Malonga, MPH, is a research coordinator in the Department of Medicine, Division of Cardiology at Cornell. Ms. Malonga is responsible for patient recruitment and enrollment through Cornell's Cardiology clinic, Echocardiography lab, and surgery division, and also coordinates biospecimen collection, data extraction, and follow-up. Ms. Malonga previously worked as a medical information analyst with the Sickle Cell Program of Bronx Lebanon Hospital, as well as a research and database coordinator for the NYU Occupational and Industrial Othopaedic Center. Before the Master’s program, she received a BS in Mathematics and Biology in 2007 from CUNY, where she was involved in math and stem cell research projects. She graduated with an MPH degree in Epidemiology and Biostatistics from Hunter College in 2011. Ms. Malonga has done research in various areas such as cell biology, musculoskeletal disorders, communicable diseases, HIV behavioral epidemiology, and hemoglobinopathies. She has expertise in quantitative data analysis, in creating and managing databases. She is proficient in Access, SQL, SPSS, R, EpiInfo, SAS. 

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University of Texas Medical School at Houston

 

The University of Texas Medical School at Houston (UTMS) registers patients from ethnically diverse populations through its affiliation with Memorial Hermann Hospital, the Memorial Hermann Healthcare System, and the Texas Medical Center. The Memorial Hermann Healthcare System is composed of nine acute-care hospitals, four heart and vascular center institutes, three long-term acute care hospitals, several freestanding outpatient imaging centers, and several other healthcare facilities. Memorial Hermann Hospital is a certified Level 1 Trauma Center, one of only two in the Greater Houston area, providing 24-hour emergency and trauma care to more than 40,000 patients per year, including patients with acute aortic dissections. A Memorial Hermann Life Flight air ambulance service operates a fleet of three helicopters that provide emergency rescue and air transport services to a multi-county area. As the primary teaching hospital for UTMS, Memorial Hermann provides comprehensive services in surgery, internal medicine, pediatrics, obstetrics, and cardiology, and cutting-edge research in a variety of medical specialties.

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The GenTAC Data Coordinating Center (DCC)

The GenTAC DCC is operated by RTI International and a multidisciplinary team with expertise in epidemiology, project management, clinical research, data management, statistics, and information technology. RTI is one of the world's leading research institutes, dedicated to improving the human condition by turning knowledge into practice. The staff of more than 2,800 provides research and technical services to governments and businesses in more than 40 countries in the areas of health and pharmaceuticals, education and training, surveys and statistics, advanced technology, international development, economic and social policy, energy and the environment, and laboratory testing and chemical analysis.

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Barbara Kroner, PhD, MPH
Principal Investigator

Barbara L. Kroner, MPH, PhD, a senior epidemiologist, has been with RTI since 1983. She is the Project Director for GenTAC and has oversight responsibility for all technical, operational, and financial activities related to the contract. She directs large-scale international surveys on the epidemiology of retroviruses, cancer, and hemophilia. Dr. Kroner also manages the Multisite Studies Design Coordination and Analysis Program within the Statistics and Epidemiology Unit. She oversees a staff of 40 who work almost exclusively on international multisite epidemiological studies. Dr. Kroner has frequently been invited to speak at scientific meetings worldwide and to provide consultation in epidemiology and data analysis to investigators conducting studies of factors associated with hemophilia. She has also published extensively in this area.

Tabitha Hendershtot Headshot

Tabitha Hendershot
Senior Project Manager

Tabitha Hendershot has been with RTI since 1990 and has extensive experience in large-scale, multisite epidemiological studies. She is the senior project manager and is responsible for the day-to-day operations of the Registry. Her experience in study and survey design includes instrument design, specimen collection, human subjects’ protections, field operations training field and data collection staff, writing manuals, and monitoring adherence to protocols. Ms. Hendershot also recruits, trains, and supervises field and telephone interviewers. Moreover, she has experience with studies that require locating, contacting, and interviewing hard-to-reach populations, such as homeless people and people who have drug or alcohol addictions.

Kevin Wilson Headshot

Kevin Wilson, MS
Systems Analyst

Kevin Wilson, MS, has been with RTI since 2005. He is responsible for maintaining the secure data management system for collection of data. Mr. Wilson’s research focuses on the application of graph-based data mining techniques to application domains, including statistical machine translation, natural language processing, and systems biology. He has technical experience in the areas of Web application design, programming, and training. Mr. Wilson has extensive experience in developing and analyzing surveys and performing educational research, leading to the development of data management and reporting systems using a variety of technologies. He also has experience in the software development lifecycle, database design, and normalization.

Liliana Preiss, MS
Statistician

Liliana Preiss, MS, a research statistician, has been working on epidemiology and public health projects at RTI since 1996. She provides statistical support to the GenTAC investigators including analyses for manuscripts and other ongoing research. Ms. Preiss has extensive experience in a wide range of statistical methods including analysis of variance and covariance, linear and logistic regression, survival analysis with fixed and time-dependent covariates, sensitivity and specificity analysis, and tests for comparison of independent and non-independent populations. She is also proficient in analysis of complex survey data, multivariate analysis, and competing risks. Ms. Preiss has co-authored numerous papers related to her project work.

Danny Ringer
Biospecimen Manager

Danny Ringer is an experienced biospecimen manager who has worked in the field of biorepository management and biospecimen science for more than 30 years. He is responsible for ensuring that the collection, processing, storage, and shipping of biospecimens are comparable across collection protocols and sites. He has acquired a broad range of research and clinical technical skills related to biospecimen collection and management. His technical expertise covers specimen collection and processing procedures, preservation methodologies, inventory control, domestic and international shipping regulations, clinical and research bioassay applications, logistics and cold-chain management, and biorepository design and management.

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Imaging Core

The purpose of the GenTAC Imaging Core laboratory is to standardize the readings and measurements from echocardiogram, MRI, and CT studies with the goal of improving the diagnosis and management of patients receiving treatment for genetically-triggered thoracic aortic aneurysms and dissections. MedStar Health Research Institute, located in Washington, DC, is leading the Imaging Core.

Federico Asch
Principal Investigator

Dr. Federico Asch has been working for the Cardiovascular Core Laboratory since 2002 and is currently the Associate Director for the Echocardiography Core Laboratory. Dr. Asch serves as the Principal Investigator for GenTAC ICORE and chairs the imaging subcommittee within GenTAC. He has published his research in journals such as Circulation, American Journal of Cardiology, American Heart Journal, Echocardiography, and others. He has served as scientific reviewer for multiple organizations and journals, including NIH/NHLBI, American Society of Echocardiography, American College of Cardiology, Journal of the American College of Cardiology, American Journal of Cardiology, European Journal of Echocardiography, JAMA and Annals of Internal Medicine.

Neil Weissman
Co-Principal Investigator

Dr. Neil Weissman, the Director of the Cardiovascular Core Laboratory at MedStar, has been involved in cardiac ultrasound for approximately 20 years. He has served as director of the Ultrasound Core Laboratory for more than 100 multicenter trials and serves as co-Principal Investigator for GenTAC Imaging Core. He has been involved in several national ultrasound organizations (e.g., Chair of the Guidelines and Standards committee and the Board of Directors of the American Society of Echocardiography [ASE], Chair of the American College of Cardiology Imaging Spotlight for 2006 at the Annual Scientific Sessions; Chair of the ASE Scientific Sessions in 2009).

M. Therese Tupas-Habib
Manager

M. Therese Tupas-Habib joined the Medstar Health Research Institute in 2000 and currently serves as the manager of the Cardiovascular Core Lab. She has more than 15 years of echo sonography experience in both the clinical and research settings. Ms. Tupas-Habib is a member of the American Society of Echocardiography and the American Registry of Diagnostic Medical Sonography.

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Phenotyping Core

The Phenotyping Core ensures the consistency and confidence of enrollment diagnoses among the participating clinical centers for patients recruited into the GenTAC Registry. In conjunction with the GenTAC Steering Committee, the Phenotyping Core, led by Johns Hopkins University, establishes confirmation rules for each diagnostic category programmed by the Data Coordinating Center and run on the clinical datasets.

Jennifer Habashi, MD
Principal Investigator 

Jennifer Habashi, MD, completed her general pediatric cardiology fellowship at Johns Hopkins Hospital. She trained with Dr. Hal Dietz, in the laboratory and clinical arena, to become a specialist in connective tissues, particularly as they relate to the heart. Dr. Habashi co-authored several key articles focusing on emerging and novel therapeutics for the treatment of MFS and was the lead author on the pivotal paper, “Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome.” This paper pioneered a new understanding of aortic aneurysm and the new approaches for treatment. In addition, Dr. Habashi has won numerous early career research awards, including the Young Investigator award from the American Heart Association and the Postdoctoral Translational award from the American Society of Human Genetics. She has continued to pursue a dual research and clinical career, focusing on the translational research approaches in connective tissue disorders.

Gretchen Oswald Headshot

Gretchen Oswald, MS, CGC
Genetic Counselor

Gretchen Oswald, MS, CGC, is a board-certified genetic counselor dedicated to heritable disorders of connective tissue on staff at the JHU genetics clinic since 2001. She is co-founder and vice-president of the Loeys-Dietz Syndrome Foundation and serves on the board of the mid-Atlantic chapter of the National Marfan Foundation. Ms. Oswald also assists with other research studies involving aneurysm syndromes at JHU.

 

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