Elaine H. Zackai is a Professor of

Pediatrics Pediatrics ( also spelled ''paediatrics'' or ''pædiatrics'') is the branch of medicine that involves the medical care of infants, children, adolescents, and young adults. In the United Kingdom, paediatrics covers many of their youth until th ...

, Director of Clinical Genetics, and the Director of the Clinical Genetics Center at

Children's Hospital of Philadelphia The Children's Hospital of Philadelphia (CHOP) is a children's hospital in Philadelphia, Pennsylvania, with its primary campus located in the University City neighborhood of West Philadelphia in the campus of the University of Pennsylvania. The h ...

(CHOP).

Biography

She was born in

Brooklyn Brooklyn () is a borough of New York City, coextensive with Kings County, in the U.S. state of New York. Kings County is the most populous county in the State of New York, and the second-most densely populated county in the United States, be ...

in 1943, to a metallurgist and a high school teacher. Zackai completed her

B.A. Bachelor of arts (BA or AB; from the Latin ', ', or ') is a bachelor's degree awarded for an undergraduate program in the arts, or, in some cases, other disciplines. A Bachelor of Arts degree course is generally completed in three or four yea ...

at the

New York University College of Arts & Science The New York University College of Arts & Science (CAS) is the primary liberal arts college of New York University (NYU). The school is located near Gould Plaza next to the Courant Institute of Mathematical Sciences and the Stern School of Busines ...

in 1964, followed by her

M.D. Doctor of Medicine (abbreviated M.D., from the Latin ''Medicinae Doctor'') is a medical degree, the meaning of which varies between different jurisdictions. In the United States, and some other countries, the M.D. denotes a professional degree. T ...

New York University School of Medicine NYU Grossman School of Medicine is a medical school of New York University, a private research university in New York City. It was founded in 1841 and is one of two medical schools of the university, with the other being the Long Island School of ...

in 1968. She is a member of multiple professional organisations, sits on multiple academic and institutional committees, and holds multiple professorships. She is also a founding Fellow of the

American College of Medical Genetics and Genomics The American College of Medical Genetics and Genomics (ACMG) is an organization composed of biochemical, clinical, cytogenetic, medical and molecular geneticists, genetic counselors and other health care professionals committed to the practice of ...

Research

Her research has included genetic factors relating to birth defects, syndromes relating to

chromosomal translocation In genetics, chromosome translocation is a phenomenon that results in unusual rearrangement of chromosomes. This includes balanced and unbalanced translocation, with two main types: reciprocal-, and Robertsonian translocation. Reciprocal translo ...

, and 22q

gene deletion In genetics, a deletion (also called gene deletion, deficiency, or deletion mutation) (sign: Δ) is a mutation (a genetic aberration) in which a part of a chromosome or a sequence of DNA is left out during DNA replication. Any number of nucleoti ...

Awards and honours

* 1991 - Fellow,

College of Physicians of Philadelphia The College of Physicians of Philadelphia is the oldest private medical society in the United States. Founded in 1787 by 24 Philadelphia physicians "to advance the Science of Medicine, and thereby lessen human misery, by investigating the disease ...

* 2002 - Blockley-Osler Award * 2003 - Letitia and Alice Scott Endowed Chair in Genetics and Molecular Biology * 2007 - Master Clinician Award, Children's Hospital of Philadelphia * 2015 - Distinguished Alumni Award, Children's Hospital of Philadelphia * 2016 -

American Society of Human Genetics 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, a ...

Mentorship Award * 2022 -

Foundation for Genetic and Genomic Medicine's David L. Rimoin Lifetime Achievement Award in Medical Genetics

Selected publications

* ''22q11.2 deletion syndrome'', Nature Reviews Disease Primers volume 1, Article number: 15071 (2015), * ''PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome'', Human Molecular Genetics, Volume 8, Issue 8, August 1999, Pages 1461–1472, * ''Nonlethal presentations of CYP26B1-related skeletal anomalies and multiple synostoses syndrome'', 2021,

References

External links

* {{DEFAULTSORT:Zackai, Elaine Living people American women scientists American pediatricians New York University alumni American geneticists Year of birth missing (living people)