Faculty Profile

Dr. Bernice E. Morrow, Ph.D.

Bernice E. Morrow, Ph.D.

Professor, Department of Genetics

Professor, Department of Obstetrics & Gynecology and Women's Health

Professor, Department of Pediatrics (Pediatric Cardiology)

Sidney L. and Miriam K. Olson Chair in Cardiology

Director, Division of Translational Genetics, Department of Genetics

Areas of Research: My main areas of research include human genetics and mammalian embryonic development. We study genetic syndromes resulting in intellectual disability and congenital anomalies such as heart defects, and model in mice.

Professional Interests

New genome wide technologies such as microarrays and next-generation sequencing have made it possible to uncover the cause of human disease.  Our lab focuses on human microdeletion syndromes in which affected individuals have one copy of a set of genes instead of two.  What has been particularly important is to understand why deletions occur during meiosis, identify genes responsible for the disorders and discover genetic risk factors outside deleted intervals that can explain variable phenotypes associated with such syndromes. 

 Our lab has collected over 2,000 DNA samples from individuals with the 22q11.2 deletion syndrome (22q11DS) and some of their normal parents.  The disorder is so interesting because affected individuals have behavioral disorders, craniofacial anomalies and heart defects, similar to what occurs separately in the general population.  We have performed microarray and whole exome sequencing to identify genetic modifiers of the phenotype.  A systems biology computational approach is being undertaken to integrate genotypes, known biological function of genes, exome sequence and copy number variation data to identify key genetic pathways downstream of the 22q11.2 deletion. 

In order to determine function of genes identified from the human genetics projects, we are using the mouse as a model.  Two key genes, Tbx1 and Crkl are being analyzed in mice to understand the molecular pathogenesis of cardiac, craniofacial and inner ear defects in mouse models of the disorder.  We will cross mice with mutations of these genes and genes identified from the human genetics projects to identify genetic interactions. 

Selected Publications

Freyer L, Aggarwal V, Morrow BE. (2011) Dual embryonic origin of the mammalian otic vesicle forming the inner ear. Development. 138(24):5403-14. PMID: 22110056  PMC3222214

Simrick S, Szumska D, Gardiner JR, Jones K, Sagar K, Morrow B, Bhattacharya S, Basson MA.Biallelic expression of Tbx1 protects the embryo from developmental defects caused by increased receptor tyrosine kinase signaling. Dev Dyn. 2012 Aug;241(8):1310-24. doi: 10.1002/dvdy.23812. Epub 2012 Jun 26.PMID: 22674535

Herman SB, Guo T, McGinn DM, Blonska A, Shanske AL, Bassett AS, Chow EW, Bowser M, Sheridan M, Beemer F, Devriendt K, Swillen A, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Carpenter C, Zheng X, Johnson J, Chung J, Higgins AM, Philip N, Simon T, Coleman K, Heine-Suner D, Rosell J, Kates W, Devoto M, Zackai E, Wang T, Shprintzen R, Emanuel BS, Morrow BE; International Chromosome 22q11.2 Consortium. Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients. Am J Med Genet A. 2012 Nov;158A(11):2781-7. doi: 10.1002/ajmg.a.35512. Epub 2012 Oct 3.  PMID: 23034814

Delio M, Pope K, Wang T, Samanich J, Haldeman-Englert CR, Kaplan P, Shaikh TH, Cai J, Marion RW, Morrow BE, Babcock M. Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome. Am J Med Genet A. 2013 Mar;161(3):527-33. doi: 10.1002/ajmg.a.35784. Epub 2013 Feb 7. PMID: 23401415

Delio M, Guo T, McDonald-McGinn DM, Zackai E, Herman S, Kaminetzky M, Higgins AM, Coleman K, Chow C, Jarlbrzkowski M, Bearden CE, Bailey A, Vangkilde A, Olsen L, Olesen C, Skovby F, Werge TM, Templin L, Busa T, Philip N, Swillen A, Vermeesch JR, Devriendt K, Schneider M, Dahoun S, Eliez S, Schoch K, Hooper SR, Shashi V, Samanich J, Marion R, van Amelsvoort T, Boot E, Klaassen P, Duijff SN, Vorstman J, Yuen T, Silversides C, Chow E, Bassett A, Frisch A, Weizman A, Gothelf D, Niarchou M, van den Bree M, Owen MJ, Suñer DH, Andreo JR, Armando M, Vicari S, Digilio MC, Auton A, Kates WR, Wang T, Shprintzen RJ, Emanuel BS, Morrow BE. Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes.  Am J Hum Genet. 2013 Mar 7;92(3):439-47. doi: 10.1016/j.ajhg.2013.01.018. Epub 2013 Feb 28. PMID: 23453669

More Information About Dr. Bernice Morrow

Division of Translational Genetics

Material in this section is provided by individual faculty members who are solely responsible for its accuracy and content.

Albert Einstein College of Medicine
Michael F. Price Center
1301 Morris Park Avenue , Room 402
Bronx, NY 10461

Tel: 718.678.1121

Research Information