Research Interests:
Dr. Driscoll, as part of a SCOR in Pediatric Cardiovascular Disease, is studying the genetic basis of non-syndromic conotruncal cardiac malformations. The laboratory has established a bank of DNA and cell lines from individuals with congenital cardiac defects which will serve as the basis for future studies on the genetics of congenital heart disease.
 
Dr. Driscoll's previous research focused on understanding the genetic basis of two genetic disorders, DiGeorge syndrome and velocardiofacial sydrome. Using molecular and cytogenetic techniques her laboratory has shown that the vast majority of patients with these disorders have microdeletions of chromosome 22q11. Dr. Driscoll's initial studies defined a critical region within chromosome 22 responsible for these disorders and the laboratory is currently utilizing translocation breakpoint mapping to further refine this region and narrow our search for the genes responsible for the phenotypic features observed in these patients. As a result of this research Dr. Driscoll and her colleagues at Children's Hospital have developed a diagnostic assay for the detection of deletions utilizing fluorescence in situ hybridization. Currently, Dr. Driscoll is examining modifying genes which may influence phenotypic variability.

Recent Representative Publications: 
Stalmans I, Lambrechts D, De Smet F, Janssen S, Wang J, Maity S, Kneer P, von der Ohe M, Swillen A, Maes C, Gewillig M, Molin DGM, Hellings P, Boetel T, Haardt M, Compernolle V, Dewerchin M, Plaisance S, Vlietinck R, Emanuel B, Gittenberger-de Groot AC, Esguerra CV, Scambler P, Morrow B, Driscoll DA, Moons L, Carmeliet G, Behn-Krappa A, Devriendt K, Collen D, Conway SJ, Carmeliet P: VEGF: A modifier of the del22q11 (DiGeorge) syndrome?  Nature Medicine 9(2):1-10, 2003.
  
Saitta, S.C., Harris, S.E., McDonald-McGinn, D.M., Emanuel, B.S., Tonnesen, M.K., Zackai, E.H., Seitz, S.C., Driscoll, D.A.: Independent de novo 22q11.2 deletions in first cousins with DiGeorge/velocardiofacial syndrome. Am. J. Med. Genet. 124A:313-317, 2004.

Seeber, B., Driscoll, D.A.: Hereditary breast and ovarian cancer syndrome: should we test adolescents? J. Pediatr. Adolesc. Gynecol. 124A:213-7, 2004.

Morgan MA, Driscoll DA, Mennuti MT, Schulkin J: Practice patterns of obstetrician-gynecologists regarding preconception and prenatal screening for cystic fibrosis. Genetics in Medicine 6(5): 450-55, 2004.

Watson MS, Cutting GR, Desnick RJ, Driscoll DA, Klinger K, Mennuti MT, Palomaki GE, Popovich BW, Pratt VM, Rohlfs EM, Strom CM, Richards CS, Witt DR, Grody WW: Cystic Fibrosis (CF) population carrier screening: 2004 revision of ACMGs mutation panel. Genetics in Medicine 6:387-91, 2004.

Merrill A., Rosenblum-Vos, L., Driscoll, D.A., Daley K., Treat K.: Prenatal diagnosis of Fanconi Anemia (group c) subsequent to abnormal sonographic findings. Pren Diag 25:: 20-22, 2005.

Lambrechts, D., Deviendt, K., Driscoll, D.A., Goldmuntz, E., Gewillig, M., Vlietinck, R., Collen, D., Carmeliet, P.: Low expression VEGF haplotype increases the risk for tetralogy of Fallot: a family-based association study. J. Med. Genet. 42:519-522, 2005.

Sherman, S., Pletcher, B.A., Driscoll, D.A.: Fragile X Syndrome: Diagnostic and carrier testing Genet. Med.. 7:584-7, 2005.

Driscoll, D.A., Boland, T.. Emanuel, B.S., Kirschner, R.K., Larossa, D., Manson, J., et. al.: Evaluation of potential modifyers of the palatal phenotype in the 22q11.2 deletion syndrome. Cleft Palate Craniofac. J. 43:435-441, 2006.

Driscoll, D.A.: Molecular and genetic aspects of DiGeorge/velocardiofacial syndrome. Methods Mol. Med. 126:43-55, 2006.

Pletcher, B. A., Toriello, H. V., Noblin, S. J., Seaver, L. H., Driscoll, D. A., Bennett, R. L., and Gross, S. J.: Indications for genetic referral: a guide for healthcare providers. Genet Med 9, 385-389, 2007.