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Prof Elaine H. Zackai | |
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| 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, M.D. 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, born Huda El-Hibri, 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 became the editor of the Annual Review of Neuroscience as of 2018.
DECIPHER is a web-based resource and database of genomic variation data from analysis of patient DNA. It documents submicroscopic chromosome abnormalities and pathogenic sequence variants, from over 25000 patients and maps them to the human genome using Ensembl or UCSC Genome Browser. In addition it catalogues the clinical characteristics from each patient and maintains a database of microdeletion/duplication syndromes, together with links to relevant scientific reports and support groups.
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 an American medical geneticist and neonatologist noted for her research on fetal cell microchimerism and prenatal testing. She is the director of the Eunice Kennedy Shriver National Institute of Child Health and Human Development, part of the National Institutes of Health. 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 is 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.
Wendy K. Chung is an American clinical and molecular geneticist and physician. She currently directs the clinical genetics program at NewYork–Presbyterian Hospital / Columbia University Medical Center in New York City and serves as the Kennedy Family Professor of Pediatrics. She is the author of 600 peer-reviewed articles and 75 chapters and has won several awards as a physician, researcher, and professor. Chung helped to initiate a new form of newborn screening for spinal muscular atrophy which is used nationally and was among the plaintiffs in the Supreme Court case which banned gene patenting.
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, M.D., Ph.D., is a Singapore-born physician-scientist and geneticist at the Cleveland Clinic, notable for identifying the PTEN gene. She is 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.
Christine Edry Seidman is the Thomas W. Smith Professor of Medicine at Harvard Medical School and director of the Cardiovascular Genetics Center at Brigham and Women's Hospital. She operates a joint lab with her husband, Jonathan Seidman, where they study genetic mechanisms of heart disease. In recognition of her scientific contributions, she was elected as a fellow of the National Academy of Sciences, American Academy of Arts and Sciences, and National Academy 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.
Stephan A. Grupp is an American pediatric oncologist. He is the Chief of the Cell Therapy and Transplant Section in the Division of Oncology and Director of the Cancer Immunotherapy Program at the Children's Hospital of Philadelphia and Professor of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania. In 2019, Grupp was elected a Member of the National Academy of Medicine.
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.
| Authority control: Academics |
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