Bernice E. Morrow, Ph.D.
Sidney L. and Miriam K. Olson Professor in Cardiology;
Director, Division of Translational Genetics, Department of Genetics
The causes of congenital heart defects—present in about 1 percent of live births—are
largely unknown, but most are likely due to a combination of genetic and environmental
factors. To gain insights into genetic causes, Dr. Morrow and her colleagues study a
human birth defect syndrome known as velo-cardio-facial syndrome (VCFS)/DiGeorge
syndrome (DGS). VCFS/DGS results from a deletion of 40 genes on one of two copies of
chromosome 22
(22q11.2). The most common heart defect in patients is tetralogy of Fallot—a hole
between the heart’s ventricles, obstruction of blood flow to the lungs, an out-of-place
aorta and a thickened right ventricular wall. Dr. Morrow has studied a mouse model of
VCFS/DGS and found that one gene in
particular, called TBX1, is most vital for normal heart development. The next step is
to identify the defect-producing molecular changes that occur when TBX1 is missing,
which could lead to gene therapy. full bio>>
Key Publications
- Chung JH, Cai J, Suskin BG, Zhang Z, Coleman K, Morrow BE. Whole Genome Sequencing and Integrative Genomic Analysis Approach on Two 22q112 Deletion Syndrome Family Trios for Genotype to Phenotype Correlations. Hum Mutat. 2015 May 15.
- Delio M, Guo T, McDonald-McGinn DM, Zackai E, Herman S, Kaminetzky M, Higgins AM, Coleman K, Chow C, Jalbrzikowski 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 22q112 deletion in velocardiofacial and DiGeorge syndromes. Am J Hum Genet. 2013 Mar 7;92(3):439-47.
- Racedo SE, McDonald-McGinn DM, Chung JH, Goldmuntz E, Zackai E, Emanuel BS, Zhou B, Funke B, Morrow BE. Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation. Am J Hum Genet. 2015 Feb 5;96(2):235-44.
- Mlynarski EE, Sheridan MB, Xie M, Guo T, Racedo SE, McDonald-McGinn DM, Gai X, 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, Shaikh TH, Bassett AS, Goldmuntz E, Morrow BE, Emanuel BS. Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q112 Deletion Syndrome. Am J Hum Genet. 2015 May 7;96(5):753-64.
