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.
Delio M, Patel K, Maslov A, Marion RW, McDonald TV, Cadoff EM, Golden A, Greally JM, Vijg J, Morrow B, Montagna C. (2015) Development of a Targeted Multi-Disorder High-Throughput Sequencing Assay for the Effective Identification of Disease-Causing Variants. PLoS One. 2015 Jul 27;10(7):e0133742. eCollection 2015. PMID: 26214305; PMC4516357
Guo T, Chung JH, Wang T, McDonald-McGinn DM, Kates WR, Hawuła W, Coleman K, Zackai E, Emanuel BS, Morrow BE. (2015) Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome. Am J Hum Genet. 2015 Dec 3;97(6):869-77. Epub 2015 Nov 19. PMID: 26608785; PMC4678435
Mlynarski EE, Xie M, Taylor D, Sheridan MB, Guo T, Racedo SE, McDonald-McGinn DM, Chow EW, Vorstman J, Swillen A, Devriendt K, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Philip N, Simon TJ, Roberts AE, Piotrowicz M, Bearden CE, Eliez S, Gothelf D, Coleman K, Kates WR, Devoto M, Zackai E, Heine-Suñer D, Goldmuntz E, Bassett AS, Morrow BE, Emanuel BS; International Chromosome 22q11.2 Consortium. (2016) Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome. Hum Genet. 2016 Mar;135(3):273-85. Epub 2016 Jan 7. PMID: 26742502
Wenger TL, Kao C, McDonald-McGinn DM, Zackai EH, Bailey A, Schultz RT, Morrow BE, Emanuel BS, Hakonarson H. (2016) The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder. Sci Rep. 2016 Jan 19;6:19372. PMID: 26781481. PMC4726047
Guo X, Delio M, Haque N, Castellanos R, Hestand MS, Vermeesch JR, Morrow BE, Zheng D. Variant discovery and breakpoint region prediction for studying the human 22q11.2 deletion using BAC clone and whole genome sequencing analysis. Hum Mol Genet. 2016 [Epub ahead of print] PMID: 27436579
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