Professor, Department of Genetics
Professor, Department of Pediatrics (Pediatric Cardiology)
Sidney L. and Miriam K. Olson Chair in Cardiology
Director, Division of Translational Genetics, Department of Genetics
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.
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
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Albert Einstein College of Medicine
Michael F. Price Center
1301 Morris Park Avenue , Room 402
Bronx, NY 10461