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Prof Elaine H. Zackai | |
|---|---|
| Education | New York University College of Arts & Science |
| Alma mater | New York University School of Medicine |
| Scientific career | |
| Fields | Pediatrics, genetics |
| Institutions | Children's Hospital of Philadelphia |
Elaine H. Zackai is a Professor of Pediatrics, Director of Clinical Genetics, and the Director of the Clinical Genetics Center at Children's Hospital of Philadelphia (CHOP).
She was born in Brooklyn in 1943, to a metallurgist and a high school teacher. [1]
Zackai completed her B.A. at the New York University College of Arts & Science in 1964, followed by her M.D. at New York University School of Medicine in 1968. [2]
She is a member of multiple professional organisations, sits on multiple academic and institutional committees, and holds multiple professorships. [3]
She is also a founding Fellow of the American College of Medical Genetics and Genomics. [1]
Her research has included genetic factors relating to birth defects, syndromes relating to chromosomal translocation, and 22q gene deletion. [4]
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics.
Hákon Hákonarson is an Icelandic genomics researcher and physician. He is the founder and director of the Center for Applied Genomics, endowed chair in genomics at the Children's Hospital of Philadelphia, and a professor of pediatrics at the Perelman School of Medicine at the University of Pennsylvania.
Bruce Richard Korf is a medical geneticist at the University of Alabama at Birmingham. In April 2009, he began a two-year term as president of the American College of Medical Genetics (ACMG), a professional organization.
The American Society of Human Genetics (ASHG), founded in 1948, is a professional membership organization for specialists in human genetics. As of 2009, the organization had approximately 8,000 members. The society's members include researchers, academicians, clinicians, laboratory practice professionals, genetic counselors, nurses, and others who have a special interest in the field of human genetics.
Alan Edward Guttmacher is an American physician who was the director of the National Institute of Child Health (NICHD), one of the 27 institutes and centers that comprise the National Institutes of Health (NIH). In that capacity, he oversaw the institute’s activities as the focal point at the NIH for research in pediatric health and development, maternal health, reproductive health, intellectual and developmental disabilities, and rehabilitation medicine, among other areas.
Huda Yahya Zoghbi is a Lebanese-born American geneticist, and a professor at the Departments of Molecular and Human Genetics, Neuroscience and Neurology at the Baylor College of Medicine. She is the director of the Jan and Dan Duncan Neurological Research Institute. She was the editor of the Annual Review of Neuroscience from 2018-2024.
David Lawrence Rimoin was a Canadian American geneticist. He was especially noted for his research into the genetics of skeletal dysplasia (dwarfism), inheritable diseases such as Tay–Sachs disease, and diabetes.
Diana W. Bianchi is the director of the U.S. National Institutes of Health Eunice Kennedy Shriver National Institute of Child Health and Human Development, a post often called “the nation’s pediatrician.” She is a medical geneticist and neonatologist noted for her research on fetal cell microchimerism and prenatal testing. Bianchi had previously been the Natalie V. Zucker Professor of Pediatrics, Obstetrics, and Gynecology at Tufts University School of Medicine and founder and executive director of the Mother Infant Research Institute at Tufts Medical Center. She also has served as Vice Chair for Research in the Department of Pediatrics at the Floating Hospital for Children at Tufts Medical Center.
John M. Opitz was a German-American medical geneticist and professor at the University of Utah School of Medicine. He is best known for rediscovering the concept of the developmental field in humans and for his detection and delineation of many genetic syndromes, several now known as the "Opitz syndromes" including Smith–Lemli–Opitz syndrome (SLOS), Opitz–Kaveggia syndrome (FGS1), Opitz G/BBB syndrome, Bohring–Opitz syndrome, and other autosomal and X-linked conditions. He is founder of the Wisconsin Clinical Genetics Center, the American Journal of Medical Genetics, and was a cofounder of the American College and American Board of Medical Genetics.
Elaine Ann Ostrander is an American geneticist at the National Human Genome Research Institute (NHGRI) of the National Institutes of Health (NIH) in Bethesda, Maryland. She holds a number of professional academic appointments, currently serving as Distinguished and Senior Investigator and head of the NHGRI Section of Comparative Genomics; and Chief of the Cancer Genetics and Comparative Genomics Branch. She is known for her research on prostate cancer susceptibility in humans and for conducting genetic investigations with the Canis familiaris —the domestic dog— model, which she has used to study disease susceptibility and frequency and other aspects of natural variation across mammals. In 2007, her laboratory showed that much of the variation in body size of domestic dogs is due to sequence changes in a single gene encoding a growth-promoting protein.
Sekar Kathiresan is chief executive officer and co-founder of Verve Therapeutics. Verve is pioneering a new approach to the care of cardiovascular disease by developing single-course gene-editing therapies that safely and durably lower plasma LDL cholesterol in order to treat atherosclerotic cardiovascular disease.
Uta Francke is a German-American physician-geneticist known for her accomplishments in mapping genes to specific chromosome locations and discovering the genes and underlying mutations responsible for Prader-Willi and Rett syndromes. Her work on detailed mapping of human chromosome laid the foundation of the Human Genome Project and discovery of many other rare genetic disorders. She is currently a professor of Genetics and Pediatrics Emerita at Stanford University. She has also served as a consultant to 23andMe Inc since 2007, and as a part-time employee from 2010-2013.
Charis Eng was a Singaporean American physician-scientist and geneticist at the Cleveland Clinic, notable for identifying the PTEN gene. She was the chairwoman and founding director of the Genomic Medicine Institute of the Cleveland Clinic, founding director and attending clinical cancer geneticist of the institute's clinical component, the Center for Personalized Genetic Healthcare, and professor and vice chairwoman of the Department of Genetics and Genome Sciences at Case Western Reserve University School of Medicine.
Leon Emanuel Rosenberg was an American physician-scientist, geneticist, and educator. He served as chair of the department of human genetics and also as dean of the medical school of Yale University. He then worked as the chief scientific officer of the Bristol-Myers Squibb Pharmaceutical company. He wrote more than 300 research articles, chapters, and books on his scientific research and public policy views across his career.
Harvey Louis Levy is an American biochemical geneticist, pediatrician, physician scientist and academic. He is Senior Physician in Medicine and Genetics at Boston Children’s Hospital and Professor of Pediatrics at Harvard Medical School.
Cecilia Margareta Lindgren is a Swedish geneticist. She is a Professor of Genomic Endocrinology & Metabolism in the Nuffield Department of Population Health at the University of Oxford, where she is also Group Head at the Wellcome Centre for Human Genetics and a research fellow at St. Anne's College. She became Director of the Big Data Institute at Oxford on 1 April 2021; she had previously been a Senior Group Leader at the Institute. Lindgren is best known for her research on the genetics of obesity and other complex traits.
John Christodoulou is an Australian medical geneticist, genetic pathologist and clinical scientist. He is director of the Genetics Theme and Group Co-Leader of the Brain and Mitochondrial Research Group at Murdoch Children's Research Institute. Additionally, he holds the Chair in Genomic Medicine, Department of Paediatrics, The University of Melbourne.
Merlin G. Butler is an American physician scientist and professor at the University of Kansas Medical Center's Departments of Psychiatry & Behavioral Sciences and Pediatrics. He is board-certified in Clinical Genetics and Clinical Cytogenetics and was inducted into the American College of Medical Genetics and Genomics in 1993 as a founding fellow. He has over 500 publications in peer-reviewed journals, numerous book chapters.
Peter H. Byers is an American geneticist, physician, and researcher of connective tissue disorders. He is a professor of medicine, a professor of pathology, and an adjunct professor of genome sciences at the University of Washington.
Cynthia J. Curry is an emerita tenured University of California San Francisco Professor of Pediatrics and an adjunct Professor of Pediatrics at Stanford University. Board certified in pediatrics and clinical genetics, Curry has practiced as a clinical geneticist for over 20 years in Fresno, California with associations to St. Agnes Medical Center and Community Regional Medical Center.
| Authority control databases: Academics |
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