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THE SCIENTISTS OF JBRF
Demitri F. Papolos, M.D. Dr. Demitri Papolos is an Associate Professor of Psychiatry and Co-Director of the Program in Behavioral Genetics at the Albert Einstein College of Medicine. A graduate of Harvard College, Dr. Papolos received his M.D. from New York Medical College, and took his psychiatric residency at the New York State Psychiatric Institute of the Columbia University College of Physicians an Surgeons. After completing his residency, Dr. Papolos joined the faculty of the Albert Einstein College of Medicine as an attending psychiatrist at Jaccobi Hospital. He later moved to the Montefiore Medical Center to become Director of Inpatient Psychiatry and Director of the Treatment Refractory Depression Research Unit. In 1990, with the support of the Ruane Family Foundation, a NARSAD Investigator Award, and an NIMH Physician/Scientist Career Development Award, Dr. Papolos teamed with Dr. Herbert Lachman to establish the Program in Behavioral Genetics at Einstein. The focus of their work was on the novel action of lithium salts on gene expression and the investigation of stress-related animal models of depression. More recently, Dr. Papolos and his collaborators at Einstein and SUNY-Syracuse have been pursuing a line of inquiry that originated from their study of children and adolescents with an unusual genetic condition known as velo-cardio-facial syndrome (VCFS). They found that a high rate of VCFS patients have bipolar spectrum disorders, and that the behavioral symptoms that arise appear to have a developmental sequence that parallels the pattern of symptom development they have since discovered in patients with childhood-onset bipolar disorder, who were ascertained from the general population. Because the emergence of the medical and psychiatric symptoms in VCFS is associated with a micro deletion on chromosome 22, their finding may be the first direct link of a psychiatric illness to a discrete molecular target. In an extension of this diagnostic study of VCFS children, a positive allelic association was found between a variant of the COMT gene and ultra-ultra rapid cycling – a pattern of cycling most commonly expressed in childhood-onset bipolar disorder. Prompted by these findings, Dr. Papolos and colleagues examined adult patients with de novo rapid-cycling bipolar disorder from the general population, and again found an association between the low-activity COMT allele and this form of the disorder, a finding that has been confirmed by an independent research team. Following the publication of this work in the American Journal of Psychiatry , the American Journal of Human Genetics, and in Molecular Psychiatry, the COMT gene has become one of the most actively studied genetic variants in psychiatric genetics. Dr. Papolos edited the monograph Genetic Studies in Affective Disorders, (John Wiley & Sons, 1994), and is the co-author with his wife, Janice, of Overcoming Depression, Third Edition (HarperCollins,1997), the most comprehensive book written for the lay person on depression and manic-depression. The book is now in its 35th printing. Demitri Papolos is also the co-author of the highly acclaimed book, The Bipolar Child, which has been featured on ABC News's 20/20, the Oprah Winfrey Show and Public Radios’s The Infinite Mind. Dr. Papolos also has a private practice in New York City and in Westport, CT.
Hilary Blumberg, M.D. Dr. Hilary Blumberg is an Assistant Professor of Psychiatry at the Yale University School of Medicine. Her specialty is the study of abnormalities in the brain circuits that underlie bipolar disorder using brain scanning technologies such as functional magnetic resonance imaging (fMRI). Dr. Blumberg received her psychiatry training at the New York Hospital-Cornell Medical Center where she completed four years of specialized training in brain scanning techniques to study neuropsychiatric disorders under a DeWitt Wallace Reader's Digest Fellowship. Her work there culminated in two seminal reports in the literature, in the American Journal of Psychiatry and Biological Psychiatry, demonstrating orbitofrontal dysfunction in mania in bipolar disorder. Such an abnormality had been hypothesized from the localization of brain lesions known to be associated with bipolar disorder type symptoms since the early 1800s. However, it was not until the advent of positron emission tomography (PET) brain scanning techniques that this abnormality was possible to demonstrate in vivo in individuals while they were suffering with these symptoms. Dr. Blumberg received Health Emotion Research, Psychiatry Young Faculty Development, Stanley Foundation, VA Career Development and Merit Review awards for her work in this area. Dr. Blumberg joined the faculty at Yale in July 1998. At Yale she has performed studies of bipolar disorder using fMRI techniques that replicate her prior PET findings in mania and suggest an additional abnormality in a related ventral prefrontal region that is independent of mood state and may be a bipolar disorder trait abnormality. She has already collected pilot data in preadolescents and adolescents with bipolar disorder using fMRI techniques. This is the first such work of its kind, and has yielded some exciting preliminary findings. Dr. Blumberg was recently awarded a Research Career Development Award so that she may devote her time to her brain scanning research in bipolar disorder. She has funding from Merit Review and Stanley Foundation Awards to continue her work in adults with bipolar disorder.
Gianni Faedda, M.D. Dr. Gianni Faedda is a board-certified psychiatrist, clinician and a psychopharmacologist with extensive research experience in the diagnosis and treatment of bipolar affective disorder throughout the life-cycle. Dr. Faedda trained at the Lucio Bini Center in Cagliari and Rome, followed by a residency at Harvard’s McLean Hospital. After moving to the Albert Einstein College of Medicine in 1992, where he became Director of Research in Child and Adolescent Psychiatry, he received a Stanley Foundation Grant to study the efficacy of lithium salts in the treatment of adolescent-onset bipolar disorder. In 1995, Dr. Faedda and colleagues published a review of the world literature of over 2000 cases of juvenile-onset bipolar disorder. Entitled "Pediatric-Onset Bipolar Disorder; A Neglected Clinical and Public Health Problem" and published in the Harvard Review of Psychiatry, this work was seminal, and often cited in subsequent research publications in the field. Currently, he conducts independent research and collaborative projects with centers in the United States and Italy. In 1993, he founded and still directs the Centro Lucio Bini Center of New York. In 1999 he founded Understanding Manic Depression, a non-profit organization promoting public awareness of MDI, and serves as its Executive Director and Chairman of the Scientific Advisory Committee. Since 2000, he has been a member of the Professional Advisory Board for the Child and Adolescent Bipolar Foundation. In addition to being on the Scientific Advisory Council of JBRF, Dr. Faedda is a supervising faculty member of the JBRF Fellowship Program.
Herbert Lachman, M.D. Dr. Herbert M. Lachman is a psychiatric geneticist and molecular biologist at the Albert Einstein College of Medicine. He is a co-author of more than 50 peer reviewed scientific papers, book chapters and other publications. Dr. Lachman completed a residency in Internal Medicine and is certified by the Board of Internal Medicine. After completing his residency, Dr. Lachman began his research career as a post doctoral fellow in the Department of Medicine, Division of Hematology at the Albert Einstein College of Medicine. He then completed a 3 year post doctoral fellowship in the Department of Cell Biology. During his post doctoral training and early academic career Dr. Lachman studied the mechanism of leukemia cell transformation and differentiation. He was an early investigator on the role of the c-myc and p53 oncogenes in cellular differentiation and malignant cell growth. Influenced by the early linkage findings in bipolar disorder and several papers on the molecular basis of lithium action that appeared in the general scientific literature in the late 1980s, Dr. Lachman made an abrupt career change and began his research into the molecular and genetic basis of bipolar disorder and schizophrenia. Dr. Lachman teamed with Dr. Demitri Papolos and they focused on the novel action of lithium salts on gene expression. This seminal work prompted a line of investigation that continues to this day in many labs throughout the world. Several years ago Dr. Lachman identified the genetic basis for the variable enzymatic activity found in an enzyme known as COMT. This enzyme is involved in the metabolic degradation of catecholamine transmitters and had long been considered a pathway for the development of mood disorders. This work led to the discovery that the COMT gene may be a modifying factor in both bipolar disorder and schizophrenia. In bipolar disorder Dr. Lachman, in collaboration with Dr. Demitri Papolos, showed that the variant identified in the original COMT study may increase the risk for the emergence of an ultra-ultra rapid cycling pattern. In schizophrenia, Dr. Lachman and his collaborators identified the COMT variant as a risk factor for violent behavior and suicidality found in a subgroup of patients. These areas of investigation continue in Dr. Lachman's lab. In addition, the COMT gene has become one of the most intensively studied genetic variants in psychiatric genetics. Dr. Lachman was the principal investigator of a genetic linkage study identifying chromosome 22 as a target for harboring a candidate gene for bipolar disorder. He is currently analyzing candidate genes on chromosome 22 for both bipolar disorder and schizophrenia, as well as candidate genes found in regions of the genome mapped in these disorders by linkage. Dr.Lachman is also the principal investigator on a NIDA funded study on the genetics of opiate addiction. In addition to the NIDA award, Dr. Lachman has also received funding for his psychiatric genetics research from NARSAD, the Stanley Foundation, The Guggenheim Foundation, and the Ruane Family Foundation, and was a Scottish Rite Schizophrenia Research Grant recipient.
Steven Mattis, Ph.D., A.B.P.P. Steven Mattis, Ph.D.,A.B.P.P. is Clinical Professor of Neurology (Neuropsychology) at Weill Medical College of Cornell University and Adjunct Professor of Neurology (Clinical Neuropsychology) at New York University. He serves as Director of Neuropsychology Post-Doctoral Training in the Department of Neurology at the Weill Medical College of Cornell University, and is a partner in the Mattis & Luck Center for Neuropsychological Services, LLP. Dr. Mattis is a Board Certified Clinical Neuropsychologist (American Board of Professional Psychology) and Fellow of the American Psychological Association. He is past-president of the Neuropsychology Division (Division 40) of the American Psychological Association, the International Neuropsychological Society, the American Board of Clinical Neuropsychology, and immediate past-president of the American Board of Professional Psychology. Steven Mattis has served as Director of Neuropsychology, Department of Neurology, Albert Einstein College of Medicine; Director of Neuropsychology, Department of Psychiatry, Cornell Medical Center; Director of Psychological Services of Hillside Hospital-Long Island Medical Center; and as Grant Reviewer for neuropsychology in the Human Development and Aging Study Section of the National Institutes of Health. He sits on the editorial boards of several journals, and has authored over 50 articles in peer-reviewed journals, book chapters, and is the author of a widely used measure of cognitive impairment in adults. Dr. Mattis’ research activities in learning disabilities in children and the effects of brain damage on cognition have more recently centered on the neuropsychology of affective disorders. In collaboration with Dr. Demitri Papolos, he is currently investigating the neuropsychological status and variability in status of children with juvenile-onset bipolar disorder.
David J. Miklowitz, Ph.D. David J. Miklowitz, PhD, is Professor of Psychology and Psychiatry at the University of Colorado. Dr. Miklowitz completed his undergraduate work at Brandeis University and his doctoral and postdoctoral work at UCLA. His research focuses on family environmental factors and family psychoeducational treatments for adult-onset and childhood-onset bipolar disorder. Dr. Miklowitz has received the Joseph Gengerelli Dissertation Award from UCLA, Young Investigator Awards from the International Congress on Schizophrenia Research and the National Alliance for Research on Schizophrenia and Depression (NARSAD), a Research Faculty Award from the University of Colorado, and a Distinguished Investigator Award from NARSAD. He also has received funding for his research from the National Institute of Mental Health and the John D. and Catherine T. MacArthur Foundation. Dr. Miklowitz has published more than 100 research articles and book chapters on bipolar disorder and schizophrenia. His articles have appeared in the Archives of General Psychiatry, British Journal of Psychiatry, Journal of Nervous and Mental Disease, Biological Psychiatry, Journal of Clinical Psychiatry, Journal of Consulting and Clinical Psychology, and Journal of Abnormal Psychology. His book with Michael Goldstein, Bipolar Disorder: A Family-Focused Treatment Approach (Guilford), won the 1998 Outstanding Research Publication Award from the American Association for Marital and Family Therapy. His latest book (2002), also with Guilford, is titled The Bipolar Disorder Survival Guide.
Margaret Moline, Ph.D. Margaret Moline, Ph.D. received her bachelor’s of science degree in physiology from Cornell University in 1975 and her Ph.D. in physiology from Harvard University in 1981. Her thesis research concerned the interaction between circadian, photoperiodic and endocrine systems in the control of reproduction in a seasonal animal model. She joined the laboratory of the late Dr. Elliott Weitzman at Montefiore Hospital in 1981. Dr. Weitzman was one of the pioneers in the study of sleep and circadian rhythms in humans. Following the construction of a new sleep and biological rhythms laboratory at the Westchester Division of New York Presbyterian Hospital – Weill Medical College of Cornell University in 1982, Dr. Moline moved to her current location in Westchester with Dr. Weitzman’s group. Dr. Moline has pursued several areas of research at New York-Weill Cornell, all of which involve sleep or biological rhythms. She has conducted studies of women with Premenstrual Syndrome and Premenstrual Dysphoric Disorder, of countermeasures for jet lag, of countermeasures for daytime sleepiness, of hormones on mood, and is about to begin a new study of sleepiness in psychiatric populations. In addition to her research work, Dr. Moline is the Director of the Sleep-Wake Disorders Center at New York Presbyterian Hospital, Westchester Division. In this capacity, she is responsible for all administrative matters of the sleep service. Dr. Moline is the Head of the Office of Research for the Department of Psychiatry, a cross-campus role (Westchester Division and Payne Whitney Clinic) that involves both regulatory and mentoring functions. Dr. Moline has extensive review experience, having served as a reviewer and current chair of a study section for the NIH. She has also been a reviewer for NIMH, NASA and NIOSH. She reviews manuscripts for several peer-reviewed journals.
Robert Shrprintzen, Ph.D. Dr. Robert Shrprintzen is Professor of Otolaryngology and Communication Sciences at Upstate Medical University in Syracuse, New York, where he is the Director of of the Center for Diagnosis, Treatment and Study of Velo-Cardio-Facial Syndrome and the Center for Genetic Communication Disorders. He is recognized throughout the medical world for delineating four genetic diseases, several of which bear his name--most notably Velo-Cardio-Facial Syndrome (VCFS), commonly known as Shrprintzen’s Syndrome. Dr. Shrprintzen was the first to see that the children with VCFS had a multitude of psychiatric symptoms, including psychosis and paranoia. This observation led to a collaboration with Dr. Demitri Papolos which resulted in the first systematic psychiatric diagnostic study of children with VCFS. The findings from this study, reported in the American Journal of Psychiatry, showed that over 70% of the VCFS children had bipolar spectrum disorders with multiple co-morbidities. Because VCFS arises from a specific genetic abnormality (a microdeletion on the long arm of chromosome 22) Dr. Shrprintzen’s work has moved the field of behavioral genetics to actively investigate this region for candidate genes for a number of psychiatric and medical disorders, including bipolar disorder, and schizophrenia, as well as certain behavioral traits such as poor modulation of aggression. Robert Shrprintzen is the author of five books, including four texts on genetic disorders associated with communication impairment and feeding disorders. He has been invited to lecture throughout Europe, Africa, Asia, and Australia. He was the keynote speaker at the Mexican National Congress of Human Genetics in 1999, as well as the keynote speaker at a meeting sponsored by the World Health Organization in Zurich, Switzerland in 2000. Prior to Dr. Shrprintzen’s appointment at Upstate, he served as the Director of the Center for Craniofacial Disorders at Montefiore Medical Center and the Albert Einstein College of Medicine in New York City, where he was Professor of Plastic Surgery and Professor of Otolaryngology. In 1995, he helped found the Velo-Cardio-Facial Syndrome Educational Foundation, Inc. and has served as its Executive Director since its inception.
Eric Youngstrom, Ph.D. Dr. Eric Youngstrom is Associate Professor of Psychology, Psychiatry, and Management at Case Western Reserve University. He received his Ph.D. in clinical psychology from the University of Delaware, and interned at Western Psychiatric Institute and Clinic. Dr. Youngstrom's research has focused on evidence-based assessment strategies, the role of emotions in developmental psychopathology, and the assessment and phenomenology of bipolar disorder across the lifespan. He is the principal investigator on an NIMH R01 investigating the prevalence of bipolar disorder in community mental health clinics, as well as validating the performance of diagnostic aids for the detection of bipolar disorder. Eric Youngstrom is the director of the Data Management and Statistical Analysis Unit and the Research Methods Core for an NIMH-funded Developing Center for the Study of Bipolar Disorder Across the Lifespan, and he is an advisor to the Ruth and Semi Begun Center for the Understanding and Prevention of Violence. In addition to his research career, Dr. Youngstrom teaches undergraduate and graduate courses in child and family assessment, child and family therapy, developmental psychopathology, research methods and multivariate statistics. All of his teaching emphasizes evidence-based approaches to assessment and treatment. Dr. Youngstrom is the recipient of many teaching and research awards. Most recently he won the Early Career Award for Child and Adolescent Clinical Psychology from the American Psychological Association.
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