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The Cytogenetics Laboratory at Cincinnati Children's Hospital Medical Center is fortunate to be home to many dedicated and talented faculty and staff.
Gregory A. Grabowski, MD Director, Division of Human Genetics
Director, Division of Human Genetics
Director, Medical Genetics Training Program
Professor, UC Department of Pediatrics
Lysosomal storage diseases; molecular enzymology; gaucher disease; Fabry disease; molecular pathogenesis
Molecular pathogenesis and therapy of human genetic disease
Xu YH, Sun Y, Barnes S, Grabowski GA. Comparative therapeutic effects of velaglucerase alfa and imiglucerase in a Gaucher disease mouse model. PLoS One. 2010 May 20;5(5):e10750.
Sun Y, Grabowski GA. Impaired autophagosomes and lysosomes in neuronopathic Gaucher disease. Autophagy. 2010 Jul;14:6(5).
Xu YH, Barnes S, Sun Y, Grabowski GA. Multi-system disorders of glycosphingolipid and ganglioside metabolism. J Lipid Res. 2010 Jul;51(7):1643-75.
Sun Y, Liou B, Ran H, Skelton MR, Williams MT, Vorhees CV, Kitatani K, Hannun YA, Witte DP, Xu YH, Grabowski GA. Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits. Hum Mol Genet. 2010 Mar 15;19(6):1088-97.
Sun Y, Ran H, Zamzow M, Kitatani K, Skelton MR, Williams MT, Vorhees CV, Witte DP, Hannun YA, Grabowski GA. Specific saposin C deficiency: CNS impairment and acid beta-glucosidase effects in the mouse. Hum Mol Genet. 2010 Feb 15;19(4):634-47.
Sun Y, Liou B, Quinn B, Ran H, Xu YH, Grabowski GA. In vivo and ex vivo evaluation of L-type calcium channel blockers on acid beta-glucosidase in Gaucher disease mouse models. PLoS One. 2009 Oct 7;4(10):e7320.
Grabowski GA, Kacena K, Cole JA, Hollak CE, Zhang L, Yee J, Mistry PK, Zimran A, Charrow J, vom Dahl S. Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1. Genet Med. 2009 Feb;11(2):92-100.
Liou B, Grabowski GA. Participation of asparagine 370 and glutamine 235 in the catalysis by acid beta-glucosidase: the enzyme deficient in Gaucher disease. Mol Genet Metab. 2009 May;97(1):65-74.
Grabowski GA. Phenotype, diagnosis, and treatment of Gaucher's disease. Lancet. 2008 Oct 4;372(9645):1263-71.
Schorry EK, Keddache M, Lanphear N, Rubinstein JH, Srodulski S, Fletcher D, Blough-Pfau RI, Grabowski GA. Genotype-phenotype correlations in Rubinstein-Taybi syndrome. Am J Med Genet A. 2008 Oct 1;146A(19):2512-9.
Xia Li, PhD Assistant Director, Cytogenetics Laboratory
Assistant Director, Cytogenetics Laboratory
Assistant Professor, UC Department of Pediatrics
In 2010, as a principal investigator, Dr. Li received a NIH grant (2010-2015) titled “Comparative Genetics of Sweet Taste in Carnivora” (R01DC010842-01A1). Now, she serves as a consultant. She also own two patents:
From 2010-2012, I received the following board certification/license:
PhD: Fudan University, Shanghai, China, 1998.
Clinical Cytogenetics Training: Children’s Hospital of Philadelphia, Philadelphia, PA, 2010.
Jiang P, Josuea J, Li X, Glaser D, Li W, Brand JG, Margolskee RF, Reed DR, Beauchamp GK. Major Taste Loss in Carnivorous Mammals. PNAS. 2012.
Li X, Bachmanov AA, Maehashi K, Li W, Lim R, Brand JG, Beauchamp GK, Reed DR, Chloe Thai, Floriano WB. Sweet receptor gene variation and aspartame taste in primates and other species. Chemical Senses. 2011.
Conlin LK, Kramer W, Hutchinson A, Li X, Riethmann H, Hakonarson H, Hosain S, Spinner NB. Genetic architecture of chromosome Ring 20 syndrome. J Med Genet. 2011;48:1-9.
Li X, Glaser D, Li W, Beauchamp GK, Brand JG. Sweet receptor gene (Tas1r2) structure and preference for sweet stimuli in species of Carnivora. J of Heredity. 2009.
McDaniel AH, Li X, Tordoff MG, Bachmanov AA, Reed DR. A locus on mouse chromosome 9 (Adip5) affects the relative size of the gonadal but not retroperitoneal adipose depot. Mammalian Genome. 2006;17:1078-1092.
Li X, Li W, Wang H, Bayley DL, Cao J, Reed DR, Bachmanov AA, Huang L, Legrand-Defretin V, Beauchamp GK, Brand JG. Cats lack a sweet taste receptor. J of Nutrition. 2006 Jul;136(7S):1932S-1934S.
Li X, Li W, Wang H, Cao J, Maehashi K, Huang L, Bachmanov AA, Reed DR, Legrand-Defretin V, Beauchamp GK, Brand JG. Pseudogenization of a sweet receptor gene accounts for cats’ indifference toward sugar. PLoS Genetics. 2005;1:e3.
Li X, Bachmanov AA, Li S, Chen Z, Tordoff MG, Beauchamp GK, de Jong PJ, Wu C, Chen L, West DB, Ross DA, Ohmen JD, Reed DR. Genetic, physical and comparative map of the subtelomeric region of mouse chromosome 4. Mammalian Genome. 2002;13:5-19.
Li X, Inoue M, Reed DR, Huque T, Puchalski RB, Tordoff MG, Ninomiya Y, Beauchamp GK, Bachmanov AA. High-resolution genetic mapping of the saccharin preference locus (Sac) and the putative sweet taste receptor (T1R1) gene to mouse distal chromosome 4. Mammalian Genome. 2001;12:13-16.
Bachmanov AA, Li X, Li S, Neira M, Beauchamp GK, Azen EA. High-resolution genetic mapping of the sucrose octaacetate taste aversion (Soa) locus on mouse chromosome 6. Mammalian Genome. 2001;12,695-699.
Howard M. Saal, MD, FACMG Director, Clinical Genetics
Director, Clinical Genetics
Director, Cytogenetics Laboratory
Co-Director, 22Q-VCFS Center
Craniofacial disorders; community genetics; growth disorders; 22Q-VCFS
Clinical and research interests include genetic etiologies and natural histories of craniofacial disorders and new syndrome delineation.
Howard M. Saal, MD, a highly respected clinical geneticist and dysmorphologist, is the head of the section of Clinical Genetics in the Division of Human Genetics at Cincinnati Children's Hospital Medical Center. In addition to being board certified in clinical genetics and pediatrics, Dr. Saal is a board certified cytogeneticist.
Early in his career, he was the Director of the Cytogenetics Laboratory at the University of Connecticut Health Center, where he was also the associate director of the Craniofacial Disorders Team.
Dr. Saal is interested in the genetic causes of craniofacial disorders, especially cleft lip and cleft palate. He also has a significant interest in the natural history of genetic conditions, and has authored or co-authored numerous publications centering on the natural history and management of various genetic conditions, with special attention to neurofibromatosis, cleft lip, cleft palate, Pierre Robin sequence and 22Q-VCFS. After leaving Connecticut, Dr. Saal went to Children's National Medical Center in Washington, DC, where he was the Vice-Chairman of the Department of Medical Genetics and co-director of the Craniofacial Center. His clinical activities included establishment of the Neurofibromatosis Clinic, the Biochemical Genetics Clinic, and the multidisciplinary Skeletal Dysplasia Clinic with his colleagues at Children's National Medical Center. His interest in community activities led to his being named to the Health Professionals Advisory Committee and later to the Board of Directors of the National Capital Area March of Dimes.
Dr. Saal joined the staff at Cincinnati Children's in 1993 as the Head of Clinical Genetics. He has been an active participant in numerous clinical settings and has established the Hereditary Cancer Program, a unique local resource for families with familial and inherited cancers.
Dr. Saal is involved in community activities and has established urban genetics outreach clinics at three sites in Hamilton County. He has also been appointed as acting director of the Craniofacial Center at Cincinnati Children's, where he continues to cultivate his interests in the care of children with craniofacial disorders.
MD: Wayne State University, Detroit, MI, 1975-1979.
Internship: University of Connecticut Integrated Program in Pediatrics, Farmington, CT, 1979-1980.
Residency: University of Connecticut Integrated Program in Pediatrics, Farmington, CT, 1980-1982.
Fellowship: University of Washington School of Medicine Division of Medical Genetics, Seattle, WA, 1982-1984.
Certification: American Board of Medical Genetics in Cytogenetics and Clinical Genetics, 1984; American Board of Pediatrics, 1985.
Zarate YA, Putnam PE, Saal HM. Intestinal malrotation in a patient with Pfeiffer syndrome type 2. Cleft Palate Craniofac J. 2010 Nov;47(6):638-41. Epub 2010 Feb 28.
Zarate YA, Martin LJ, Hopkin RJ, Bender PL, Zhang X, Saal HM. Evaluation of growth in patients with isolated cleft lip and/or cleft palate. Pediatrics. 2010 Mar;125(3):e543-9.
Knapke SC, Bender P, Prows C, Schultz JR, Saal HM. Parental perspectives of children born with cleft lip and/or palate: a qualitative assessment of suggestions for healthcare improvements and interventions. Cleft Palate Craniofac J. 2010 Mar;47(2):143-50.
Burrow TA, Saal HM, de Alarcon A, Martin LJ, Cotton RT, Hopkin RJ. Characterization of congenital anomalies in individuals with choanal atresia. Arch Otolaryngol Head Neck Surg. 2009 Jun;135(6):543-7.
Baboiu O, Collins M, Saal HM. Hepatic mesenchymal hamartoma: cytogenetic analysis of a case and review of the literature. Pediatric Pathology 2008 Jul-Aug;11(4):295-299.
Kogan JM, Egelhoff JC, Saal HM, Interstitial deletion of 13q associated with polymicrogyria. Am J Med Genet 2008;146A(7):910-916.
Kotsopoulos J, Lubinski J, Lynch HT, Klijn J, Ghadirian P, Neuhausen SL, Kim-Sing C, Foulkes WD, Moller P, Isaacs C, Domchek S, Randall S, Offit K, Tung N, Ainsworth P, Gershoni-Baruch R, Eisen A, Daly M, Karlan B, Saal HM, Couch F, Pasini B, Wagner T, Friedman E, Rennert G, Eng C, Weitzel J, Sun P, Narod SA; The Hereditary Breast Cancer Clinical Study Group. Age at first birth and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res Treat 2007;10(2)5:221-228.
Friedman, E, Kotsopoulos, J, Lubinski, J, Lynch, HT, Paviz, G, Neuhausen, SL, Isaacs, C, Weber, B, Foulkes, WD, Moller, P, Rosen, B, Kim-Sing, C, Gershoni-Baruch, R, Ainsworth, P, Daly, M, Tung, N, Eisen, A, Olopade, OI, Karlan, B, Saal, HM, Garber, JE, Rennert, G, Gilchrist, D, Eng, C, Offit, K, Osborne, M, Sun, P, Narod, SA. Spontaneous and therapeutic abortions and the risk of breast cancer among BRCA mutation carriers. Breast Cancer Res. 2006;8(2):R15.
Gronwald, J, Tung, N, Offit, K, Gershoni, R, Daly, M, Kim-Sing, C, Olsson, H, Ainsworth, P, Eisen, A,Saal, H, Friedman, E, Olopade, O, Osborne, M, Weitzel, J, Lynch, H, Ghadirian, P, Lubinski, J, Sun P, Narod, SA al. (2006). Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers: an update. Int J Cancer. 2006;118(9): 2281-4.
Teresa Smolarek, PhD Director, Cytogenetics Laboratory
Associate Professor, UC Department of Pediatrics
PhD: Medical Genetics, Indiana University School of Medicine, 1995.
Certification: American Board of Medical Genetics, Clinical Cytogenetics, 2002; Clinical Molecular Genetics, 2005.
Mehta PA, Harris RE, Davies SM, Kim MO, Mueller R, Lampkin B, Mo J, Myers K, Smolarek TA. Numerical chromosomal changes and risk of development of myelodysplastic syndrome--acute myeloid leukemia in patients with Fanconi anemia. Cancer Genet Cytogenet. 2010 Dec;203(2):180-6. El-Hattab AW, Smolarek TA, Walker ME, Schorry EK, Immken LL, Patel G, Abbott MA, Lanpher BC, Ou Z, Kang SH, Patel A, Scaglia F, Lupski JR, Cheung SW, Stankiewicz P. Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping. Hum Genet. 2009 Oct;126(4):589-602.
Suzuki T, Sakagami T, Rubin BK, Nogee LM, Wood RE, Zimmerman SL, Smolarek T, Dishop MK, Wert SE, Whitsett JA, Grabowski G, Carey BC, Stevens C, van der Loo JC, Trapnell BC. Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA. J Exp Med. 2008 Nov 24;205(12):2703-10. Bhatla D, Davies SM, Shenoy S, Harris RE, Crockett M, Shoultz L, Smolarek T, Bleesing J, Hansen M, Jodele S, Jordan M, Filipovich AH, Mehta PA. Reduced-intensity conditioning is effective and safe for transplantation of patients with Shwachman-Diamond syndrome. Bone Marrow Transplant. 2008 Aug;42(3):159-65. Zarate YA, Kogan JM, Schorry EK, Smolarek TA, Hopkin RJ. A new case of de novo 11q duplication in a patient with normal development and intelligence and review of the literature. Am J Med Genet A. 2007 Feb 1;143(3):265-70.
Mehta PA, Ileri T, Harris RE, Williams DA, Mo J, Smolarek T, Auerbach AD, Kelly P, Davies SM. Chemotherapy for myeloid malignancy in children with Fanconi anemia. Pediatr Blood Cancer. 2007 Jun 15;48(7):668-72. D’Armiento J, Imai K, Schiltz J, Kolesnekova N, Sternberg D, Benson K, Pardo A, Selman M, Smolarek T, Vundavalli M, Sonnet J, Szabolcs M and Chada K. Identification of the Benign Mesenchymal Tumor Gene, HMGA2, in Lymphangiomyomatosis (LAM). Cancer Research. 2007;67(5):1902-1909.
Jennifer E. Glass, MS, CGC Genetic Counselor
BS: Genetics: Purdue University, West Lafayette, IN, 2005.
MS: Genetic Counseling: Case Western Reserve University, Cleveland, OH, 2009.
Emily J. King, MS Genetic Counselor I, Division of Human Genetics
Kristen L. Sund, MS, PhD, LGC Genetic Counselor II, Division of Human Genetics
Genetic Counselor II, Division of Human Genetics
Grote L, Myers M, Lovell A, Saal H, Sund KL. Variable approaches to genetic counseling for microarray regions of homozygosity associated with parental relatedness. Am J Med Genet A. 2013 Nov 15. Epub ahead of print.
Connor J, Hinton R, Miller E, Sund K, Ruschman J, Ware S. Genetic Testing Practices in Infants with Congenital Heart Disease. Congenit Heart Dis. 2013 June 20. Epub ahead of print.
Sund KL, Zimmerman SL, Thomas C, Mitchell AL, Prada CE, Grote L, Bao L, Martin LJ, Smolarek TA. Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships. Genet Med. 2013 Jan;15(1):70-8.
Grote L, Myers M, Lovell A, Saal H, Sund KL. Variable laboratory reporting for regions of homozygosity indicating parental relatedness identified by SNP microarray. Genet in Med. 2012 Dec;14(12):971-6.
Benson DW, Sund KL. Looking down the atrioventricular canal. Cardiovasc Res. 2010 Nov 1;88(2):205-6.
Sund K. Applying our skills to give back: A Non-Profit Experience with the International Mosaic Down Syndrome Association. Perspectives in Genetic Counseling. 2010 Summer: 32 (2).
Lipscomb Sund K, Rame Gowda S, Benson DW. Adults with congenital heart disease: A genetic perspective. Diagnosis and Management of Adult Congenital Heart disease. Gatzoulis MA, Webb GD, and Daubeney PEF (eds). Elsevier, New York. 2010.
Sund KL, Roelker S, Ramachandran V, Durbin L, Benson DW. Analysis of Ellis van Creveld syndrome gene products; Implications for Cardiovascular Development and Disease. Hum Mol Genet. 2009 May 15;18(10):1813-24.
Margie L. Hayes, BS, CG(ASCP)cm Laboratory Manager, Cytogenetics, Division of Human Genetics
Carole Anne Henon Jayne, BA, CLSp(CG) Performance Improvement Coordinator, Division of Human Genetics
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