Elaine Zackai

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).

Biography

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]

Research

Her research has included genetic factors relating to birth defects, syndromes relating to chromosomal translocation, and 22q gene deletion. ^[4]

Awards and honours

• 1991 - Fellow, College of Physicians of Philadelphia
• 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 Mentorship Award ^[5]
• 2022 - American College of Medical Genetics and Genomics Foundation for Genetic and Genomic Medicine's David L. Rimoin Lifetime Achievement Award in Medical Genetics ^{[6] [1]}

Selected publications

• 22q11.2 deletion syndrome, Nature Reviews Disease Primers volume 1, Article number: 15071 (2015), doi : 10.1038/nrdp.2015.71
• 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, doi : 10.1093/hmg/8.8.1461
• Nonlethal presentations of CYP26B1-related skeletal anomalies and multiple synostoses syndrome, 2021, doi : 10.1002/ajmg.a.62387

References

1. "Clinical Geneticist and Pediatrician Elaine Zackai, MD, FACMG Receives David L. Rimoin Lifetime Achievement Award in Medical Genetics from the ACMG Foundation for Genetic and Genomic Medicine" (PDF). www.acmgfoundation.org. 23 March 2022.
2. "Elaine H. Zackai | CHOP Research Institute". www.research.chop.edu.
3. Philadelphia, The Children's Hospital of (August 24, 2014). "Elaine H. Zackai, MD". www.chop.edu.
4. "'Proud of Even the Smallest Things:' Q&A With Elaine Zackai, MD". www.research.chop.edu.
5. Puga, Christelle (June 23, 2016). "ASHG Honors Elaine Zackai with Inaugural Mentorship Award". ASHG.
6. Philadelphia, The Children's Hospital of (March 28, 2022). "Clinical Geneticist Elaine Zackai Receives Lifetime Achievement Award". www.chop.edu.

External links

• Publications by Elaine Zackai at ResearchGate