Liming Bao, MD, PhD
Associate Director of Clinical Cytogenetics Lab
focuses on the study of genetic biomarkers for hematological diseases and their underlying pathogenesis and clinical relevance.
513-636-4329
liming.bao@cchmc.org
Liming Bao, MD, PhD
Associate Director of Clinical Cytogenetics Lab
Academic Information
Associate Professor, UC Department of Pediatrics
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Specialties
Clinical InterestsCancer genetics Research InterestsPathogenesis of hematological malignancies; molecular genetics of inherited disorders
Education and Training
MD: Shanghai Medical University PhD: University Of South Alabama Medical Genetics Fellowship: University of Colorado Health Sciences Center Certifications: Clinical molecular genetics 1999 Clinical cytogenetics: 2001
Publications
View PubMed Publications.
Lv L, Wu C, Sun H, Zhu S, Yang Y, Chen X, Fu H, Bao L. Combined 677CC/1298AC genotypes of methylenetetrahydrofolate reductase (MTHFR) reduce susceptibility to precursor B lymphoblastic leukemia in a Chinese population. Eur J Haematol. 2010;84(6):506-12. Irons RD, Le A, Bao L, Zhu X, Ryder J, Wang XQ, Ji M, Chen Y, Wu X, Lin G. Characterization of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) in Shanghai, China: Molecular and cytogenetic characteristics, IgV gene restriction and hypermutation patterns. Leuk Res. 2009;33(12):1599-603.
Bao L, Gross SA, Ryder J, Wang X, Ji M, Chen Y, Yang Y, Zhu S, Irons RD. Adult precursor B lymphoblastic leukemia in Shanghai, China: characterization of phenotype, cytogenetics and outcome for 137 consecutive cases. Int J Hematol. 2009;89(4):431-7.
Gross SA, Zhu X, Bao L, Ryder J, Le A, Chen Y, Wang XQ, Irons RD. A prospective study of 728 cases of non-Hodgkin lymphoma from a single laboratory in Shanghai, China. Int J Hematol. 2008;88(2):165-73.
Lv L, Lin GW, Wang XQ, Bao LM & Zou HJ. A case-control study of risk factors for myelodysplastic syndromes. J of Chin. Occup Health, 2007. 25, 705-709.
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Min-Xin Guan, PhD
Adjunct Professor
has identified several mitochondrial variants and is actively characterizing their roles in modifying susceptibility, age-of-onset, penetrance and severity of disease, with particular interest in maternally inherited deafness.
513-636-3337
min-xin.guan@cchmc.org
Min-Xin Guan, PhD
Adjunct Professor
Academic Information
UC Department of Pediatrics
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Specialties
Mitochondrial biogenesis; cellular and molecular biology of mitochondrial disorders, especially in hearing loss and neuromuscular disorders.
Education and Training
BS: Biology, Hangzhou University, 1983.
PhD: The Australian National University, Canberra, Australia, 1993.
Research Fellow: California Institute of Technology, Pasadena, CA, 1993-1996.
Senior Research Fellow: California Institute of Technology, Pasadena, CA, 1996-1999.
Publications
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Guan MX. Mitochondrial 12S rRNA mutations associated with aminoglycoside ototoxicity. Mitochondrion. 2011 Mar;11(2):237-45. Li R, Guan MX. Human mitochondrial leucyl-tRNA synthetase corrects mitochondrial dysfunctions due to the tRNALeu(UUR) A3243G mutation, associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like symptoms and diabetes. Mol Cell Biol. 2010 May;30(9):2147-54. Wang X, Yan Q, Guan MX. Combination of the loss of cmnm5U34 with the lack of s2U34 modifications of tRNALys, tRNAGlu, and tRNAGln altered mitochondrial biogenesis and respiration. J Mol Biol. 2010 Feb 5;395(5):1038-48. Qian Y, Guan MX. Interaction of aminoglycosides with human mitochondrial 12S rRNA carrying the deafness-associated mutation. Antimicrob Agents Chemother. 2009 Nov;53(11):4612-8. Li R, Liu Y, Li Z, Yang L, Wang S, Guan MX. Failures in mitochondrial tRNAMet and tRNAGln metabolism caused by the novel 4401A>G mutation are involved in essential hypertension in a Han Chinese Family. Hypertension. 2009 Aug;54(2):329-37. Wang X, Yan Q, Guan MX. Mutation in MTO1 involved in tRNA modification impairs mitochondrial RNA metabolism in the yeast Saccharomyces cerevisiae. Mitochondrion. 2009 Jun;9(3):180-5. Wang X, Lu J, Zhu Y, Yang A, Yang L, Li R, Chen B, Qian Y, Tang X, Wang J, Zhang X, Guan MX. Mitochondrial tRNAThr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families. Pharmacogenet Genomics. 2008 Dec;18(12):1059-70. Wang X, Yan Q, Guan MX. Deletion of the MTO2 gene related to tRNA modification causes a failure in mitochondrial RNA metabolism in the yeast Saccharomyces cerevisiae. FEBS Lett. 2007 Sep 4;581(22):4228-34. Guan MX, Yan Q, Li X, Bykhovskaya Y, Gallo-Teran J, Hajek P, Umeda N, Zhao H, Garrido G, Mengesha E, Suzuki T, del Castillo I, Peters JL, Li R, Qian Y, Wang X, Ballana E, Shohat M, Lu J, Estivill X, Watanabe K, Fischel-Ghodsian N. Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations. Am J Hum Genet. 2006 Aug;79(2):291-302. Li R, Qu J, Zhou X, Tong Y, Hu Y, Qian Y, Lu F, Mo JQ, West CE, Guan MX. The mitochondrial tRNA(Thr) A15951G mutation may influence the phenotypic expression of the LHON-associated ND4 G11778A mutation in a Chinese family. Gene. 2006 Jul 5;376(1):79-86.
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Robert J. Hopkin, MD
Co-Director, 22Q-VCFS Center
is a clinical geneticist interested in the natural history of Fabry disease and its evaluation and treatment; he is currently involved in a clinical trial for pediatric Fabry disease, NF research, several outcomes studies for patients with cleft lip and/or cleft palate and velocardiofacial syndrome (VCFS), and he and is actively enrolling patients in [national/international] disease registries for many of the lysosomal storage diseases.
513-636-4760
rob.hopkin@cchmc.org
Robert J. Hopkin, MD
Co-Director, 22Q-VCFS Center
Academic Information
Associate Professor, UC Department of Pediatrics
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Specialties
Clinical InterestsFabry disease and other Lysosomal storage disease; craniofacial genetics; clinical intervention for genetic disease; neurofibromatosis; dysmorphology; prenatal diagnosis of genetic syndromes Research InterestsFabry disease; Robin Sequence; 22q11 deletion; neurofibromatosis; craniofacial genetics; chromosomal anomalies
Biography
Robert J. Hopkin, MD, is an assistant professor of clinical pediatrics at Cincinnati Children's Hospital Medical Center. Dr. Hopkin graduated from the University of Nevada Medical School. He completed residency and chief residency in Pediatrics at the Phoenix Children's Hospital, Maricopa Medical Center Combined Residency Program. His training in Medical Genetics was completed at Cincinnati Children's Hospital Medical Center. The majority of Dr. Hopkin's time is spent in caring for patients with genetic disorders. He participates in clinics from Fetal Care to Adult Genetics. He is also actively involved in education of health care providers regarding the application of genetics for patient care. Dr Hopkin has participated in a number of clinical trials and is a member of American College of Medical Genetics Committee on Therapeutics. He has participated in natural history studies on Fabry disease, Pompe disease, velocardiofacial syndrome, Pierre Robin sequence, Neurofibromatosis type I, and several other genetic conditions. The unifying principle in his research interests is application of scientific knowledge to improve outcomes for patients afflicted with genetic disorders.
Education and Training
MD: University of Nevada Medical School, Reno, NV, 1990.
Residency: Phoenix Children's Hospital, Manicopa Medical Center, Phoenix, AZ, 1993; Phoenix Children's Hospital, Manicopa Medical Center, Phoenix, AZ, 1994.
Fellowship: Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 1997.
Certification: Pediatrics, 1993; Clinical Genetics, 1996.
Publications
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Tenney JR, Hopkin RJ, Schapiro MB. Deletion of 14-3-3{varepsilon} and CRK: A Clinical Syndrome With Macrocephaly, Developmental Delay, and Generalized Epilepsy. J Child Neurol. 2010 Sep 10. Burrow TA, Bailey LA, Kinnett DG, Hopkin RJ. Acute progression of neuromuscular findings in infantile Pompe disease. Pediatr Neurol. 2010 Jun;42(6):455-8. 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. Zarate YA, Patterson L, Yin H, Hopkin RJ. A case of minimal change disease in a Fabry patient. Pediatr Nephrol. 2010 Mar;25(3):553-6. Morris LM, Lim FY, Elluru RG, Hopkin RJ, Jaekle RK, Polzin WJ, Crombleholme TM. Severe micrognathia: indications for EXIT-to-Airway. Fetal Diagn Ther. 2009;26(3):162-6. Zarate YA, Mena R, Martin LJ, Steele P, Tinkle BT, Hopkin RJ. Experience with hemihyperplasia and Beckwith-Wiedemann syndrome surveillance protocol. Am J Med Genet A. 2009 Aug;149A(8):1691-7. 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. Kenny AP, Crimmins NA, Mackay DJ, Hopkin RJ, Bove KE, Leonis MA. Concurrent course of transient neonatal diabetes with cholestasis and paucity of interlobular bile ducts: a case report. Pediatr Dev Pathol. 2009 Sep-Oct;12(5):417-20. Zarate YA, Pacheco MC, Bove KE, Gorlin R, Zhao H, Hopkin RJ. Phenotypic and microscopic description of a new case of Ermine phenotype. Am J Med Genet A. 2009 Jun;149A(6):1253-6. Guimaraes CV, Linam LE, Kline-Fath BM, Donnelly LF, Calvo-Garcia MA, Rubio EI, Livingston JC, Hopkin RJ, Peach E, Lim FY, Crombleholme TM. Prenatal MRI findings of fetuses with congenital high airway obstruction sequence. Korean J Radiol. 2009 Mar-Apr;10(2):129-34.
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Taosheng Huang, MD, PhD
Academic Information
Professor, UC Department of Pediatrics
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Specialties
Biography
Taosheng Huang, MD, PhD, is a physician-scientist with substantial experience in translation research, particularly in mitochondrial medicine. After obtaining his MD, PhD, Dr. Huang did his pediatrics residency at Georgetown University Hospital 1993 to 1996. He completed his clinical genetics and clinical molecular genetics fellowship at Harvard Medical School and became a junior faculty member at the Children’s Hospital at Harvard from 1999. Dr. Huang is board-certified in Pediatrics, Clinical Genetics and Clinical Molecular Genetics. Dr. Huang moved to UC Irvine in 2001 and became a independent investigator. The primary interest of his lab is in translation research, such as the genetic basis of optic atrophy and other mitochondrial diseases. Dr. Huang has published over 50 articles on a variety of topics that range from genetic syndromes to molecular mechanisms with experience and spectrum of interests. Recently, he has been working on mitochondria-related optic atrophy and the molecular basis of other mitochondria disease. He served as the director for the MitoMed Molecular Diagnostics Lab at UC Irvine for 8 years. The laboratory is CLIA-certified and mainly engaged in the study of molecular basis of mitochondria disease. The mutation of mitochondrial genome causes many human conditions, including cancer, diabetes and degenerative neurological disorders. Recently, Dr. Huang moved to Cincinnati Children's Hospital Medical Center to direct the program of mitochondrial medicine. The goal of the program is to integrate the research, molecular testing and clinical service to improve the care of patients with mitochondrial disease.
Education and Training
PhD: Biomedical Science, Mount Sinai Medical School, New York, 1991. MS: Biochemistry, The Third Military Medical College, Chongqing, China, 1986. MD: (Passed US Medical Board Exam step I, Step II and Step III), Fujian Medical College, Fuzhou, Fujian, China, 1983. Research Fellowship: Seidman Laboratory, Howard Hughes Medical Institute, Harvard Medical School, Boston, Massachusetts, Dec 1997 - Jul 1999. Clinical Fellowship: Clinical Genetics and Clinical Molecular Genetics, Children’s Hospital, Harvard Medical School, Boston, Massachusetts, Jul 1996 - Jul 1999. Residency: Pediatrics, Georgetown University Medical School, Children’s Medical Center, Washington, DC, Jul 1993- Jul 1996. Postdoctoral Fellowship: Jerome H. Holland Laboratory, American Red Cross, Rockville, Maryland, Dec 1991 - Jul 1993.
Publications
Taosheng Huang. The Molecular Mechanisms of OPA1-Mediated Optic Atrophy in Drosophila Model and Prospects for Antioxidant Treatment. PLoS Genetics. 2008 Jan;4(1):e6. Will Yarosh*, Tomasa Barrientos*, Taraneh Esmailpour, Limin Lin, Philip M. Carpenter, Kathryn Osann, Hoda Anton-Culver, Taosheng Huang. TBX3 is overexpressed in breast cancer and represses p14ARF by interacting with HDACs. Cancer Research. 2008;68:693-699 *These authors contribute equally Sha Tang, Stephanie Tse, Phung Khanh Le, Kimberly Nguyen, Douglas C. Wallace, Taosheng Huang. Heterozygous Mutation of Opa1 in Drosophila Shorten Lifespan Mediated through Increased Reactive Oxygen Species Production. PLoS One, 4(2):e4492. Parvin Shojaeian, Hung-Tat Leung, Karen Ocorr, Rolf Bodmer, William L. Pak, Stephanie Tse, Phung Khanh Le, Kimberly Nguyen, Taosheng Huang. Heterozygous mutation of Drosophila Opa1 causes the development of multiple organ abnormalities in an age-dependent and organ-specific manner. PLoS One. 2009;4(8):e6867. Taosheng Huang, Rosamaria Santarelli, Arnold Starr. Cochlear potentials accompanying R445H mutation of OPA1 gene in patients with both optic and auditory neuropathies. Brain Research. 2009;1300:97-104 Jing Liu, Taraneh Esmailpour, Xiying Shang, Gultekin Gulsen, Andy Liu, Taosheng Huang. TBX3 overexpression in an inducible transgenic mouse model causes hyperplasia of the mammary glands and increased mammary stem cells. BMC Dev Biol. 2011;11:65. Fuyun Ji, Mark S. Sharpley, Olga Derbenev, Leonardo Scherer Alves, Pin Qian, Yaoli Wang,Dimitra Chalkiab, Maria Lvov, Jiancheng Xu, Wei Yao, Mariella Simon, Julia Platt, Shiqin Xu, Alessia Angelinb, Antonio Davil, Taosheng Huang, Ping H. Wang, Lee-Ming Chuang, Lorna G. Moore, Guisheng Qian, Douglas C. Wallace. Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans. PNAS. 2012;109(19):7391-6 Chengkang Zhang, Vincent H. Huang, Mariella Simon, Lokendra K. Sharma, Weiwei Fan, Richard Haas, Douglas C. Wallace, Yidong Bai, Taosheng Huang. Heteroplasmic Mutations of the Mitochondrial Genome Cause Paradox Effects on Mitochondrial Functions. FASEB Journal. 2012. Taraneh Esmailpour, Taosheng Huang. TBX3 promotes human embryonic stem cell proliferation and neuroectoderm differentiation in a differentiation stage-dependent manner. Stem Cell. 2012.
Grants
Genetics studies of optic atrophy. Principal Investigator. National Eye Institute. Apr 2008 - Mar 2014.
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Nancy Doan Leslie, MD
Director, Biochemical Genetics Laboratory
is a clinical geneticist working to improve the health of individuals with inborn errors of metabolism (lysosomal disorders, as well as fatty acid and protein metabolic disorders) through development and evaluation of new drugs. As part of the critical infrastructure for clinical research on these rare diseases, she assists in the development and enrollment of patients into disease registries.
513-636-2438
nancy.leslie@cchmc.org
Nancy Doan Leslie, MD
Director, Biochemical Genetics Laboratory
Director, ABMG-Accredited Clinical Training Program
Academic Information
Professor, UC Department of Pediatrics
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Specialties
Clinical InterestsGalactosemia; PKU; inborn errors; newborn screening; lysosomal storage disease Research InterestsFocus on inborn errors of metabolism, with an emphasis on long term outcome in PKU and in the molecular biology of galactosemia
Education and Training
MD: Washington University, St. Louis, MO, 1975 to 1979.
Internship and Residency: University of Cincinnati College of Medicine, Cincinnati, OH.
Fellowship: Pediatric Endocrinology, Cincinnati Children's Hospital Medical Center,OH, 1982 to 1985; Clinical Genetics and Clinical Biochemical Genetics, Cincinnati Children's Hospital Medical Center, OH, 1993 to 1995.
Certification: American Board of Pediatrics, 1986; American Board of Pediatrics, Sub-Board of Pediatric Endocrinology, 1989; American Board of Medical Genetics, Board-Certified in Clinical Genetics and Clinical Biochemical Genetics, 1996, Active in MOC.
Publications
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Slaughter JL, Meinzen-Derr J, Rose SR, Leslie ND, Chandrasekar R, Linard SM, Akinbi HT. The effects of gestational age and birth weight on false-positive newborn-screening rates. Pediatrics. 2010 Nov;126(5):910-6. Dalal P, Leslie ND, Lindor NM, Gilbert DL, Espay AJ. Motor tics, stereotypies, and self-flagellation in primrose syndrome. Neurology. 2010 Jul 20;75(3):284-6. Gilbert DL, Leslie EJ, Keddache M, Leslie ND. A novel hereditary spastic paraplegia with dystonia linked to chromosome 2q24-2q31. Mov Disord. 2009 Feb 15;24(3):364-70. Burrow TA, Leslie ND. Review of the use of idursulfase in the treatment of mucopolysaccharidosis II. Biologics. 2008 Jun;2(2):311-20. Burrow TA, Hopkin RJ, Leslie ND, Tinkle BT, Grabowski GA. Enzyme reconstitution/replacement therapy for lysosomal storage diseases. Curr Opin Pediatr. 2007 Dec;19(6):628-35. Review. Halperin J, Devi SY, Elizure S, Stocco C, Shehu A, Rebourcet D, Unterman TG, Leslie ND, Le J, Binart N, Gibori, G. Prolactin signaling through the Short form of Its Receptor Represses Forkhead Transcription Factor FOXO3 and its Target Gene GALT Causing a Severe Ovarian Defect. Molecular Endocrinology. 2008 22:513-22. Leslie, ND. Inborn errors and Pediatric Critical Care. In Wheeler, D ed. Pediatric Critical Care Medicine: Basic Science and Clinical Evidence. Springer 2007. Tinkle B, Lesli ND. Pompe Disease. Gene Clinics. 2007. Grabowski GA, Hopkin RJ, Burrow RA, Leslie ND, Tinkle BT. Enzyme Reconstitution/Replacement Therapy for Lysosomal Storage Diseases. Current Opinion in Pediatrics. 2007 19:628-35. Kishnani PS, Corzo D, Nicolino M, Byrne B, Mandel H, Hwu W, Leslie N, Levine J, Spencer C, McDonald M, DuMontier J, Michael H, Chien Y, Hopkin R, Vijayaraghavan S, Bruskin D, Barholomew D, van der Ploeg A, Clancy J, Prarin R, Morin G, Beck N, Delagastine G, Jokin M, Thurberg B, Richards S, Bali D, Davison M, Worden MA, Chen YT, Wraith JE. Recombinant Human Acid -Alpha Glucosidase: Major Clinical Benefits in Infantile-Onset Pompe Disease. Neurology. 2007 68(2):99-109.
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Ronghua Li, PhD
is a research instructor in Division of Human Genetics in Cincinnati Children’s Hospital Medical Center who has many years of experience in investigating mitochondrial mutations and human diseases as well as seeking therapeutic ways for these diseases. In recent years, he has 37 publications related to the mitochondrion field.
513-636-5852
ronghua.li@cchmc.org
Ronghua Li, PhD
Academic Information
Instructor, UC Department of Pediatrics
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Specialties
Mitochondrial genetic and functional study
Biography
Ronghua Li, PhD, is a mitochondrial geneticist. Right now he is focused on generation cell-specific or tissue-specific models for mitochondrial disease to study molecular/cellular mechanisms of mitochondrial disease.
Education and Training
MD: Luzhou Medical College, China, 1983. PhD: West China University of Medical Sciences, China, 1995. Research Fellow: Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, 2001. Research Associate: Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, 2004.
Publications
View PubMed Publications
Li R, Qiu Q, Jiang P, Xue L, Lu Y, Song Y, Han J, Lu Z, Zhi S, Mo JQ, Guan MX. Mitochondrial tRNA Mutations are Associated with Maternally Inherited Hypertension in two Han Chinese Pedigrees. Hum Mutat. 2012;33(8):1285-93. Wang S, Li R, Fettermann A, Li Z, Liu Y, Wang X, Zhou A, Yang L, Taschner A, Rossmanith W, Guan MX. Maternally inherited essential hypertension is associated with the novel 4263A>G mutation in the mitochondrial tRNAIle gene in a large Han Chinese family. Circulation Res. 2011;108(7):862-70. Yan N, Cai S,Guo B, Yi M, Zhu J, Chen J, Zhang T, Li R* and Liu X*. A novel mitochondrial tRNA(Val) T1658C mutation identified in a CPEO family. Mol Vision. 2010;16:1736-42. (*Co-correspondence author) Li R, Guan MX. Human mitochondrial leucyl-tRNA synthetase corrected mitochondrial dysfunctions due to the MELAS and diabetes associated tRNALeu(UUR) A3243G mutation. Mol Cell Biol. 2010;30; 9: 2147-54. Li R, Tang X, Zheng J, Cai Q, Zhang T, Gong S, Zheng W, He X, Zhu Y, Xue L, Yang A, Yang L, Lu J, Guan MX. Maternally inherited hearing loss is associated with the novel mitochondrial tRNA Ser(UCN) 7505T>C mutation in a Han Chinese family. Mol Genet Metab. 2010;100;1:57-64. Li R, Liu Y, Li Z, Yang L, Wang S, Guan MX. Failures in mitochondrial tRNAMet and tRNAGln metabolism caused by the novel 4401A>G mutation are involved in essential hypertension in a Han Chinese Family. Hypertension. 2009;54;2:329-37. Li R, Liu Y, Li Z, Wang XJ, Yang L, Wang S, Guan MX. Mitochondrial transfer RNAMet 4435A>G mutation is associated with maternally inherited hypertension in a Chinese pedigree. Hypertension. 2009;53;6:1083-90.
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Lisa J. Martin, PhD
is a genetic epidemiologist with a focus on common complex traits. Using both family and population-based analytical strategies, she studies the genetics of heart malformations as well as obesity and it’s co-morbidities.
513-636-1244
lisa.martin@cchmc.org
Lisa J. Martin, PhD
Academic Information
Associate Professor, UC Department of Pediatrics
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Specialties
Clinical InterestsObesity; genetics; complex traits Research InterestsThe genetics of normal variation, obesity, reproduction, and asthma
Biography
Dr. Martin is an internationally recognized genetic epidemiologist. She has performed genetic analysis of complex traits for over 10 years and has published over 60 peer-reviewed publications (nearly half of which she is first or senior author) in prestigious journals including Nature Genetics, PNAS, and Diabetes. During her post-doctoral training, she received the James V. Neel Young Investigator Award for work on obesity genetics. At Cincinnati Children's, she received the Charlotte R. Schmidlapp Award for being an outstanding female investigator. Her research skills are further reflected in her grant funding; she held a PI on American Diabetes Association Career Development Award and has worked as co-I on multiple grants focusing on the genetics of complex traits. At Cincinnati Children's, Dr. Martin provides statistical support for human genetic studies. She has been involved in family and population based genetic analyses by collaborating with numerous investigators. As part of this support, Dr. Martin assists in project planning, writing the statistical section of grant proposals, and assists with writing research papers. Recently, Dr. Martin has studied methodological considerations of genome wide association (GWA), especially how to reduce the number of false positives in the context of a million statistical tests1, 2. This work served as a basis for performing GWA at Cincinnati Children's. Indeed, she has designed several GWA studies under consideration for funding.
Education and Training
PhD: (with Honors) University of Kansas, Lawrence KS, 1999 Post-doctoral fellow: Southwest Foundation for Biomedical Research, San Antonio TX, 2002
Publications
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Baye TM, Martin LJ, Khurana Hershey GK. Application of genetic/genomic approaches to allergic disorders. J Allergy Clin Immunol. 2010 Sep;126(3):425-36; quiz 437-8. Sherrill JD, Gao PS, Stucke EM, Blanchard C, Collins MH, Putnam PE, Franciosi JP, Kushner JP, Abonia JP, Assa'ad AH, Kovacic MB, Biagini Myers JM, Bochner BS, He H, Hershey GK, Martin LJ, Rothenberg ME. Variants of thymic stromal lymphopoietin and its receptor associate with eosinophilic esophagitis. J Allergy Clin Immunol. 2010 Jul;126(1):160-5.e3. Doughty Rice C, Ruschman JG, Martin LJ, Manders JB, Miller E. Retrospective comparison of patient outcomes after in-person and telephone results disclosure counseling for BRCA1/2 genetic testing. Fam Cancer. 2010 Jun;9(2):203-12. Bollepalli S, Dolan LM, Deka R, Martin LJ. Association of FTO gene variants with adiposity in African-American adolescents. Obesity (Silver Spring). 2010 Oct;18(10):1959-63. Rothenberg ME, Spergel JM, Sherrill JD, Annaiah K, Martin LJ, Cianferoni A, Gober L, Kim C, Glessner J, Frackelton E, Thomas K, Blanchard C, Liacouras C, Verma R, Aceves S, Collins MH, Brown-Whitehorn T, Putnam PE, Franciosi JP, Chiavacci RM, Grant SF, Abonia JP, Sleiman PM, Hakonarson H. Common variants at 5q22 associate with pediatric eosinophilic esophagitis. Nat Genet. 2010 Apr;42(4):289-91. Blanchard C, Stucke EM, Burwinkel K, Caldwell JM, Collins MH, Ahrens A, Buckmeier BK, Jameson SC, Greenberg A, Kaul A, Franciosi JP, Kushner JP, Martin LJ, Putnam PE, Abonia JP, Wells SI, Rothenberg ME. Coordinate interaction between IL-13 and epithelial differentiation cluster genes in eosinophilic esophagitis. J Immunol. 2010 Apr 1;184(7):4033-41. 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. Tabangin ME, Woo JG, Martin LJ. The effect of minor allele frequency on the likelihood of obtaining false positives. BMC Proc. 2009 Dec 15;3 Suppl 7:S41. Martin LJ, Gao G, Kang G, Fang Y, Woo JG. Improving the signal-to-noise ratio in genome-wide association studies. Genet Epidemiol. 2009;33 Suppl 1:S29-32. Martin LJ, Woo JG, Morrison JA. Evidence of shared genetic effects between pre- and post-obesity epidemic BMI levels. Obesity (Silver Spring). 2010 Jul;18(7):1378-82.
Grants
Genetic and Environmental Risk Factors for Hemorrhagic Stroke. Co-Investigator. National Institute of Health. Jul 2008 - Jun 2013. #R01NS036695.
Center Grant, Asthma and Allergic Diseases Cooperative Research Centers (AADCRC) program. Principal Investigator. National Institute of Health. Sep 206 - Aug 2011. #U19 A1070235.
Genetic Studies of Food Allergies Research Program: Candidate Gene Approach for Eosinophilic Esophagitis. Co-Investigator. Department of Defense. Mar 2010 - Feb 2012.
Pursing Perfection in Pediatric Therapeutics. Co-Investigator. National Institute of Health. Sep 2007 - Aug 2011. #U18 HS016957.
USAMRAA Genetic and Epigenetic Differences in Monozygotic Twins with NF1. Co-Investigator. Department of Defense. Jan 2010 - Dec 2011. #NF 093100.
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Derek E. Neilson, MD
studies the genetic contributions to acute necrotizing encephalopathy (ANE), a disorder in which children are predisposed to a devastating neurologic injury following common infections.
513-636-4760
derek.neilson@cchmc.org
Derek E. Neilson, MD
Academic Information
Assistant Professor, UC Department of Pediatrics
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Biography
Dr. Neilson studies genetic contributions to the disorder acute necrotizing encephalopathy (ANE), in which children are predisposed to devastating neurologic injury following common infections. Research involving families with recurrent ANE has revealed a candidate gene which is now being studied in mouse and cellular models.
Education and Training
MD: Oregon Health Sciences University, 1998.
BA: Biology, Johns Hopkins University, 1993.
Publications
Izumi K, Takagi M, Parikh AS, Hahn A, Miskovsky SN, Nishimura G, Torii C, Kosaki K, Hasegawa T, Neilson DE. Late manifestations of tricho-rhino-pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthood. Am J Med Genet A. 2010 Aug;152A(8):2115-9. Marco EJ, Anderson JE, Neilson DE, Strober JB. Acute necrotizing encephalopathy in 3 brothers. Pediatrics. 2010 Mar;125(3):e693-8. Gika AD, Rich P, Gupta S, Neilson DE, Clarke A. Recurrent acute necrotizing encephalopathy following influenza A in a genetically predisposed family. Dev Med Child Neurol. 2010 Jan;52(1):99-102. López-Laso E, Mateos-González ME, Pérez-Navero JL, Camino-León R, Briones P, Neilson DE. [Infection-triggered familial or recurrent acute necrotizing encephalopathy]. An Pediatr (Barc). 2009 Sep;71(3):235-9. Neilson DE, Adams MD, Orr CM, Schelling DK, Eiben RM, Kerr DS, Anderson J, Bassuk AG, Bye AM, Childs AM, Clarke A, Crow YJ, Di Rocco M, Dohna-Schwake C, Dueckers G, Fasano AE, Gika AD, Gionnis D, Gorman MP, Grattan-Smith PJ, Hackenberg A, Kuster A, Lentschig MG, Lopez-Laso E, Marco EJ, Mastroyianni S, Perrier J, Schmitt-Mechelke T, Servidei S, Skardoutsou A, Uldall P, van der Knaap MS, Goglin KC, Tefft DL, Aubin C, de Jager P, Hafler D, Warman ML. Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2. Am J Hum Genet. 2009 Jan;84(1):44-51. Neilson DE, Adams MD, Orr CMD, Schelling DK, Eiben RM, Kerr DS, Bye AM, Childs AM, Clarke A, Crow YC, Gika AD, Grattan-Smith PJ, Schmitt-Mechelke T, Uldall P ,van der Knaap MS, Trevarthen KC, Tefft DL, Warman ML. A recurrent mutation in a nuclear pore protein predisposes to acute necrotizing encephalopathy. Submitted 2008. Falk MJ, Feiler HS, Neilson DE, Maxwell K, Lee JV, Segall SK, Robin NH, Wilhelmsen KC, Träskelin AL, Kolehmainen J, Lehesjoki AE, Wiznitzer M, Warman ML. Cohen syndrome in the Ohio Amish. Am J Med Genet A. 2004 Jul 1;128A(1):23-8. Neilson DE, Feiler HS, Wilhelmsen KC, Lynn A, Eiben RM, Kerr DS, Warman ML. Autosomal dominant acute necrotizing encephalopathy maps to 2q12.1-2q13. Ann Neurol. 2004 Feb;55(2):291-4. Neilson DE, Eiben RM, Waniewski S, Hoppel CL, Varnes ME, Bangert BA, Wiznitzer M, Warman ML, Kerr DS. Autosomal dominant acute necrotizing encephalopathy. Neurology. 2003 Jul 22;61(2):226-30. Neilson DE, Brunger JW, Heeger S, Bamshad M, Robin NH. Mixed clefting type in Rapp-Hodgkin syndrome. Am J Med Genet. 2002 Apr 1;108(4):281-4.
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William C. Nichols, PhD
Academic Information
Associate Professor, UC Department of Pediatrics
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Specialties
Elucidation of the molecular basis for primary pulmonary hypertension (PPH); mapping of genes contributing to Parkinson Disease (PD); mapping of genes contributing to juvenile rheumatoid arthritis (JRA); genetic mapping of other mendelian disorders.
Education and Training
PhD: Department of Medical Genetics, Indiana University, Indianapolis, IN, 1983-89. Associate, Howard Hughes Medical Institute, Ann Arbor, MI, 1989-91.
Research Fellow: Department of Internal Medicine, University of Michigan, Ann Arbor, MI, 1991-92.
Research Investigator: Department of Internal Medicine, University of Michigan, Ann Arbor, MI, 1992-1998.
Publications
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Sundaram N, Tailor A, Mendelsohn L, Wansapura J, Wang X, Higashimoto T, Pauciulo MW, Gottliebson W, Kalra VK, Nichols WC, Kato GJ, Malik P. High levels of placenta growth factor in sickle cell disease promote pulmonary hypertension. Blood. 2010 Jul 8;116(1):109-12. Nichols WC, Kissell DK, Pankratz N, Pauciulo MW, Elsaesser VE, Clark KA, Halter CA, Rudolph A, Wojcieszek J, Pfeiffer RF, Foroud T; Parkinson Study Group-PROGENI Investigators. Variation in GIGYF2 is not associated with Parkinson disease. Neurology. 2009 Jun 2;72(22):1886-92. Nichols WC, Pankratz N, Marek DK, Pauciulo MW, Elsaesser VE, Halter CA, Rudolph A, Wojcieszek J, Pfeiffer RF, Foroud T; Parkinson Study Group-PROGENI Investigators. Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset. Neurology. 2009 Jan 27;72(4):310-6. Nichols WC, Elsaesser VE, Pankratz N, Pauciulo MW, Marek DK, Halter CA, Rudolph A, Shults CW, Foroud T; Parkinson Study Group-PROGENI Investigators. LRRK2 mutation analysis in Parkinson disease families with evidence of linkage to PARK8. Neurology. 2007 Oct 30;69(18):1737-44. Nichols WC, Marek DK, Pauciulo MW, Pankratz N, Halter CA, Rudolph A, Shults CW, Wojcieszek J, Foroud T; Parkinson Study Group - PROGENI Investigators. R1514Q substitution in Lrrk2 is not a pathogenic Parkinson's disease mutation. Mov Disord. 2007 Jan 15;22(2):254-7. Nichols WC, Pankratz N, Hernandez D, Paisán-Ruíz C, Jain S, Halter CA, Michaels VE, Reed T, Rudolph A, Shults CW, Singleton A, Foroud T; Parkinson Study Group-PROGENI investigators. Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease. Lancet. 2005 Jan 29-Feb 4;365(9457):410-2. Thompson SD, Moroldo MB, Guyer L, Ryan M, Tombragel EM, Shear ES, Prahalad S, Sudman M, Keddache MA, Brown WM, Giannini EH, Langefeld CD, Rich SS, Nichols WC, Glass DN. A genome-wide scan for juvenile rheumatoid arthritis in affected sibpair families provides evidence of linkage. Arthritis Rheum. 2004 Sep;50(9):2920-30. Nichols WC, Uniacke SK, Pankratz N, Reed T, Simon DK, Halter C, Rudolph A, Shults CW, Conneally PM, Foroud T; Parkinson Study Group. Evaluation of the role of Nurr1 in a large sample of familial Parkinson's disease. Mov Disord. 2004 Jun;19(6):649-55. Reynolds PR, Mucenski ML, Le Cras TD, Nichols WC, Whitsett JA. Midkine is regulated by hypoxia and causes pulmonary vascular remodeling. J Biol Chem. 2004 Aug 27;279(35):37124-32. Kahn RS, Khoury J, Nichols WC, Lanphear BP. Role of dopamine transporter genotype and maternal prenatal smoking in childhood hyperactive-impulsive, inattentive, and oppositional behaviors. J Pediatr. 2003 Jul;143(1):104-10.
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Sunghee Oh, PhD
is an assistant professor in division of human genetics at Cincinnati children’s hospital medical center. Dr. Oh's research interests focus on statistical analyses and development/application of statistical novel methodologies in genomic, particularly next generation transcriptomic sequencing data and other types of NGS data, gene regulatory networks from gene expression transcriptome data based on Bayesian approaches; cross-species analysis;trajectory model; non/semi parametric methods.
513-803-5086
sunghee.oh@cchmc.org
Sunghee Oh, PhD
Academic Information
Assistant Professor, UC Department of Pediatrics
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Biography
Dr. Sunghee Oh received a PhD at the graduate school of public health, University of Pittsburgh in 2009 and completed postdoctoral studies in the Dr. James P. Noonan Laboratory at Yale School of Medicine. During postdoctoral training, Dr. Oh's research was in statistical and computational methodology in next generation sequencing data under the supervision of Dr. James P. Noonan and Dr. Hongyu Zhao.
Education and Training
Postdocs: Yale School of Medicine, New Haven, CT, 2011. PhD: University of Pittsburgh, Pittsburgh, PA, 2009.
Publications
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Ayoub AE, Oh S, Xie Y, Leng J, Cotney J, Dominguez MH, Noonan JP, Rakic P. Transcriptional programs in transient embryonic zones of the cerebral cortex defined by high-resolution mRNA sequencing. Proc Natl Acad Sci U S A. 2011 Sep 6;108(36):14950-5. Oh S, Kang DD, Brock GN, Tseng GC. Biological impact of missing-value imputation on downstream analyses of gene expression profiles. Bioinformatics. 2011 Jan 1;27(1):78-86. Glorioso C, Oh S, Douillard GG, Sibille E. Brain molecular aging, promotion of neurological disease and modulation by Sirtuin5 longevity gene polymorphism. Neurobiol Dis. 2011 Feb;41(2):279-90. Oh S, Tseng GC, Sibille E. Reciprocal phylogenetic conservation of molecular aging in mouse and human brain. Neurobiol Aging. 2011 Jul;32(7):1331-5. Sibille E, Wang Y, Joeyen-Waldorf J, Gaiteri C, Surget A, Oh S, Belzung C, Tseng GC, Lewis DA. A molecular signature of depression in the amygdala. Am J Psychiatry. 2009 Sep;166(9):1011-24. Guirguis A, Elishaev E, Oh SH, Tseng GC, Zorn K, DeLoia JA. Use of gene expression profiles to stage concurrent endometrioid tumors of the endometrium and ovary. Gynecol Oncol. 2008 Feb;108(2):370-6.
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Manoj K. Pandey, PhD
focuses on Gaucher and other Lysosomal storage diseases. Specifically, his research aims to illustrate the role of several immunological cells and their competence for glucosylceramide species accumulation, assess specific innate and adaptive immune responses and develop alternative therapy for such rare diseases.
513-803-1694
manoj.pandey@cchmc.org
Manoj K. Pandey, PhD
Academic Information
Instructor, UC Department of Pediatrics
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Specialties
ClinicalImmunology ResearchLipid arbitrated antibodies and cytokines comebacks in several Lysosomal diseases.
Biography
Manoj Kumar Pandey is a scientist in the Division of Human Genetics at Cincinnati Children's Hospital and Medical Research Center. Dr. Pandey earned his PhD in the topic “Maternal Immunoregulation and Fetal Survival” from the Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, India. He completed his Post-Doctoral Trainings from Mayo Clinic, Rochester, MN and Cincinnati Children’s Hospital and Medical Research Center, Cincinnati, OH. Dr. Pandey has presented and published his research outcomes in various national and international sessions and reputed peer-reviewed medical and scientific journals. He is a member of the American Association of Immunology, the American Association for the Advancement of Science, the International Society of Complement and the Mayo Clinic Alumni Association. The mainstream of Dr. Pandey’s research is based on the characterization of various immunological cells as well as their effector functions for persuading inflammation in illnesses like immune complex mediated diseases, asthma, cancer, recurrent spontaneous abortion and Gaucher diseases.
Education and Training
MS: CSJM University, India, 1995. PhD: Sanjay Gandhi Post Graduate Institute of Medical Sciences, India, 2003.
Post Doc: Mayo Clinic, Rochester, MN, 2004. Post Doc: Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 2008.
Publications
Pandey MK, Agrawal S. Induction of MLR-Bf and protection of fetal loss: A current double blind randomized trial of paternal lymphocyte immunization for women with recurrent spontaneous abortion. International immunopharmacology. 2004,2: 289-298. Pandey MK, Thakur S, Agrawal S. Lymphocyte immunotherapy and its probable mechanism in the maintenance of pregnancy in women with recurrent spontaneous abortion. Arch Gynecol Obstet. 2004, 269:161–172. Pandey MK, Rani Reena, Agrawal S. An update in recurrent spontaneous abortion. Arch Gynecol Obstet. 2005, 272 :95-108. Pandey M, Iankov ID, Harvey M, Griesmann GE, Federspiel MJ, Russell SJ. Immunoglobulin g antibody-mediated enhancement of measles virus infection can bypass the protective antiviral immune response. J Virol. 2006, 80(17):8530-8540. Kohl J, Balder R, Lewkowish I, Pandey MK, Hawlisch H, Wang L, Herman N, Best J, Zwirner J, Whitsett JA, Lambns JD, Paul R, Schmitz-Perreira S, Scharfstein J, Wills-Karp M. A regulatory role for the C5a anaphylatoxin on type 2 immunity in asthma. J Clin Invest. 2006,16 (3):783-796. Jongerius I, Köhl J, Pandey MK, Ruyken M, Van Kessel KPM, Van Strijp JAG, Rooijakkers SHM. Staphylococcal complement evasion by various convertase-blocking molecules. The Journal of Experimental Medicine. 2007, 204(10) 2461-2471. Bestebroer J, Aerts PC, Rooijakkers SH, Pandey MK, Köhl J, van Strijp JA, de Haas CJ. Functional basis for complement evasion by staphylococcal superantigen-like7. Cellular Microbiology. (2010) 12(10), 1506–1516 Fritsche LG, Lauer N, Hartmann A, Stippa S, Keilhauer CN, Oppermann M, Pandey MK, Köhl J, Zipfel PF, Weber BH, Skerka C. An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD). Human Molecular Genetics. 2010 1–11. Weaver DJ , Reis ES, Pandey MK, Köhl G, Harris N, Gerard C, Köhl J. C5a receptor-deficient dendritic cells promote induction of Treg and Th17 cells. Eur. J. Immunol. 2010, 40, 1. Schmudde I, Laumonnier Y, Pandey MK, Clark JR, König P, Gerard NP, Gerard C, Wills-Karp M, Köhl J, Zhang X. A Critical Role for C5L2 in the Pathogenesis of Experimental Allergic Asthma. J Immunol. 2010; 185;6741-6752.
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Daniel R. Prows, PhD
has identified quantitative trait loci (QTLs) containing genes that predispose to acute lung injury induced by the oxidants hyperoxia, ozone, and nickel sulfate aerosol. Long-term goals are to identify the respective quantitative trait genes (QTGs) and their correct combinations to improve outcomes. Collaborative studies seek to identify genes affecting susceptibility to anthrax spore inhalation and modifier genes affecting severity of interstitial lung disease. Visit the Prows Lab
513-636-5440
daniel.prows@cchmc.org
Daniel R. Prows, PhD
Academic Information
Associate Professor, UC Department of Pediatrics
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Specialties
Education and Training
BS Biology:University of Cincinnati, 1983.
BS Pharmacy:University of Cincinnati, 1988.
PhD Pharmaceutical Sciences: University of Cincinnati, 1995.
Publications
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Prows DR, Winterberg AV, Gibbons WJ Jr, Burzynski BB, Liu C, Nick TG. Reciprocal backcross mice confirm major loci linked to hyperoxic acute lung injury survival time. Physiol Genomics. 2009 Jul 9;38(2):158-68. Glasser SW, Witt TL, Senft AP, Baatz JE, Folger D, Maxfield MD, Akinbi HT, Newton DA, Prows DR, Korfhagen TR. Surfactant protein C-deficient mice are susceptible to respiratory syncytial virus infection. Am J Physiol Lung Cell Mol Physiol. 2009 Jul;297(1):L64-72. Glasser SW, Senft AP, Whitsett JA, Maxfield MD, Ross GF, Richardson TR, Prows DR, Xu Y, Korfhagen TR. Macrophage dysfunction and susceptibility to pulmonary Pseudomonas aeruginosa infection in surfactant protein C-deficient mice. J Immunol. 2008 Jul 1;181(1):621-8. Prows DR, Hafertepen AP, Winterberg AV, Gibbons WJ Jr, Wesselkamper SC, Singer JB, Hill AE, Nadeau JH, Leikauf GD. Reciprocal congenic lines of mice capture the aliq1 effect on acute lung injury survival time. Am J Respir Cell Mol Biol. 2008 Jan;38(1):68-77. Prows DR, Hafertepen AP, Winterberg AV, Gibbons WJ Jr, Liu C, Nick TG. Genetic analysis of hyperoxic acute lung injury survival in reciprocal intercross mice. Physiol Genomics. 2007 Aug 20;30(3):271-81. Prows DR, Hafertepen AP, Gibbons WJ Jr, Winterberg AV, Nick TG. A genetic mouse model to investigate hyperoxic acute lung injury survival. Physiol Genomics. 2007 Aug 20;30(3):262-70. Wesselkamper SC, McDowell SA, Medvedovic M, Dalton TP, Deshmukh HS, Sartor MA, Case LM, Henning LN, Borchers MT, Tomlinson CR, Prows DR, Leikauf GD. The role of metallothionein in the pathogenesis of acute lung injury. Am J Respir Cell Mol Biol. 2006 Jan;34(1):73-82. Prows CA, Prows DR. Medication selection by genotype: How genetics is changing drug prescribing and efficacy. Am J Nurs. 2004 May;104(5):60-70; quiz 71. Review. Prows DR, McDowell SA, Aronow BJ, Leikauf GD. Genetic susceptibility to nickel-induced acute lung injury. Chemosphere. 2003 Jun;51(10):1139-48. McDowell SA, Gammon K, Zingarelli B, Bachurski CJ, Aronow BJ, Prows DR, Leikauf GD. Inhibition of nitric oxide restores surfactant gene expression following nickel-induced acute lung injury. Am J Respir Cell Mol Biol. 2003 Feb;28(2):188-98.
Grants
Genetic Analysis of Hyperoxia-Induced Acute Lung Injury. Principal Investigator. The National Heart, Lung, and Blood Institute. May 2009 - Apr 2013. #R01 HL75562-06A1.
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Howard M. Saal, MD, FACMG
Director, Clinical Genetics
is a clinical geneticist interested in craniofacial anomalies, with a special interest in the causes and patient outcomes of velocardiofacial syndrome (VCFS), cleft lip and cleft palate (CL/CP), airway management of Pierre-Robin sequence (PRS), and speech disorders related to genetic disorders
513-636-2438
howard.saal@cchmc.org
Howard M. Saal, MD, FACMG
Director, Clinical Genetics
Director, Cytogenetics Laboratory
Co-Director, 22Q-VCFS Center
Academic Information
Professor, UC Department of Pediatrics
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Specialties
Clinical InterestsCraniofacial disorders; community genetics; growth disorders; 22Q-VCFS Research InterestsClinical and research interests include genetic etiologies and natural histories of craniofacial disorders and new syndrome delineation.
Biography
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.
Education and Training
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.
Publications
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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.
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Elizabeth K. Schorry, MD
Director, Neurofibromatosis Clinic
is a clinical geneticist and has an integral part of clinical studies in neurofibromatosis (NF), including the natural history of bone complications, learning and behavioral problems in patients with NF1, and drug trials for plexiform neurofibromas and other NF-related tumors.
513-636-0121
elizabeth.schorry@cchmc.org
Elizabeth K. Schorry, MD
Director, Neurofibromatosis Clinic
Director, Adult Neurofibromatosis Clinic
Academic Information
Associate Professor, UC Department of Pediatrics
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Specialties
Clinical InterestsGenetic disorders; congenital anomalies; neurofibromatosis; tuberous sclerosis; bone disease in neurofibromatosis Research InterestsHistory of bone complications of neurofibromatosis type 1 (NF1); learning and behavioral problems in NF1; and drug trials for plexiform neurofibromas and other NF-related tumors.
Biography
Elizabeth Schorry, MD, received her undergraduate degree at the University of Cincinnati and her MD at the University of Michigan in Ann Arbor, Michigan. Dr. Schorry completed a residency in Pediatrics and a fellowship in Medical Genetics at Children's Hospital Medical Center, Cincinnati, Ohio. She has been a faculty member in the Division of Human Genetics at Cincinnati Children's Hospital Medical Center since 1988. Dr. Schorry provides medical management, genetic assessment and genetic counseling for children with a wide range of genetic disorders and congenital anomalies. She has a special interest in neurofibromatosis and tuberous sclerosis.
Education and Training
BS: Biology, University of Cincinnati, Cincinnati, OH, 1977. MD: University of Michigan, Ann Arbor, MI, 1982. Residency: Pediatrics, Children's Hospital Medical Center, Cincinnati, OH, 1982-1985. Fellowship: Genetics, Children's Hospital Medical Center, Cincinnati, OH, 1985-1988. Certification: American Board of Pediatrics, 1987; Clinical Genetics, American Board of Medical Genetics, 1987.
Publications
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Prada CE, Zarate YA, Hagenbuch S, Lovell A, Schorry EK, Hopkin RJ. Lethal presentation of neurofibromatosis and Noonan syndrome. Am J Med Genet A. 2011 Jun;155A(6):1360-6. Rieley MB, Stevenson DA, Viskochil DH, Tinkle BT, Martin LJ, Schorry EK. Variable expression of neurofibromatosis 1 in monozygotic twins. Am J Med Genet A. 2011 Mar;155A(3):478-85. Huson SM, Acosta MT, Belzberg AJ, Bernards A, Chernoff J, Cichowski K, Gareth Evans D, Ferner RE, Giovannini M, Korf BR, Listernick R, North KN, Packer RJ, Parada LF, Peltonen J, Ramesh V, Reilly KM, Risner JW, Schorry EK, Upadhyaya M, Viskochil DH, Zhu Y, Hunter-Schaedle K, Giancotti FG. Back to the future: proceedings from the 2010 NF Conference. Am J Med Genet A. 2011 Feb;155(2):307-21. Hummel TR, Jessen WJ, Miller SJ, Kluwe L, Mautner VF, Wallace MR, Lázaro C, Page GP, Worley PF, Aronow BJ, Schorry EK, Ratner N. Gene expression analysis identifies potential biomarkers of neurofibromatosis type 1 including adrenomedullin. Clin Cancer Res. 2010 Oct 15;16(20):5048-57. Stevenson DA, Viskochil DH, Carey JC, Slater H, Murray M, Sheng X, D'Astous J, Hanson H, Schorry E, Moyer-Mileur LJ. Tibial geometry in individuals with neurofibromatosis type 1 without anterolateral bowing of the lower leg using peripheral quantitative computed tomography. Bone. 2009 Apr;44(4):585-9. Elefteriou F, Kolanczyk M, Schindeler A, Viskochil DH, Hock JM, Schorry EK, Crawford AH, Friedman JM, Little D, Peltonen J, Carey JC, Feldman D, Yu X, Armstrong L, Birch P, Kendler DL, Mundlos S, Yang FC, Agiostratidou G, Hunter-Schaedle K, Stevenson DA. Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic options. Am J Med Genet A. 2009 Oct;149A(10):2327-38. 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.
Crawford AH, Parikh S, Schorry EK, Von Stein D. The immature spine in type-1 neurofibromatosis. J Bone Joint Surg Am. 2007 Feb;89 Suppl 1:123-42.
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. Tinkle BT, Miller E, Schorry EK. Gene symbol: COL1A2. Disease: osteogenesis imperfecta type II. Hum Genet. 2006 Jul;119(6):677.
Grants
Neurofibromatosis Consortium. Local Principal Investigator. US Department of Defense, Neurofibromatosis Research Program. Mar 2007 – Mar 2012.
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Teresa Smolarek, PhD
Director, Cytogenetics Laboratory
leads studies to assess, optimize and implement state-of-the art cytogenetics analyses, such as the implementation of the SNP microarray to detect DNA dosage changes that are smaller than what can be detected through routine chromosomal analyses.
513-636-7221
teresa.smolarek@cchmc.org
Teresa Smolarek, PhD
Director, Cytogenetics Laboratory
Academic Information
Associate Professor, UC Department of Pediatrics
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Specialties
Genetic basis of pulmonary lymphangioleiomyomatosis (LAM); cancer genetics; clinical cytogenetics
Education and Training
PhD: Medical Genetics, Indiana University School of Medicine, 1995. Certification: American Board of Medical Genetics, Clinical Cytogenetics, 2002; Clinical Molecular Genetics, 2005.
Publications
View PubMed Publications.
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.
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Rolf W. Stottmann, PhD
is a developmental geneticist with an interest in using animal models to understand the genetic basis of human congenital defects. His lab is using both forward and reverse genetics to identify novel loci required for normal development. Further studies are then done to study the underlying molecular mechanism(s) leading to the defect. Specific areas of interest are cortical neuron development and craniofacial genetics.
513-636-7136
rolf.stottmann@cchmc.org
Rolf W. Stottmann, PhD
Academic Information
Assistant Professor, UC Department of Pediatrics
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Specialties
Developmental neurobiology; genetics; animal models of human congenital defects Visit the Stottmann Lab
Education and Training
BS: University of Maryland, College Park, MD, 1995.
MS: University of Maryland, College Park, MD, 1997.
PhD: Duke University School of Medicine, Durham, NC, 2004.
Postdoctoral Training: Brigham & Women’s Hospital; Harvard Medical School.
Publications
Stottmann RW, Turbe-Doan A, Tran P, Kratz L, Moran J, Kelley R, Beier DR. Cholesterol metabolism is required for intracellular hedgehog signal transduction in vivo. PLoS Genetics. 2011. Stottmann RW, Moran J, Turbe-Doan A, Driver E, Kelly M, Beier DR. An ENU screen for neurodevelopmental mutations in the mouse. Genetics. 2011 Jul;188(3):615-24. Stottmann RW, Klingensmith J. Bone morphogenetic protein signaling is required in the dorsal neural folds before neurulation for the induction of spinal neural crest cells and dorsal neurons. Dev Dyn. 2011 Apr;240(4):755-65. Stottmann RW, Beier DR. Using ENU mutagenesis for phenotype-driven analysis of the mouse. Methods Enzymol. 2010;477:329-48.
Stottmann RW, Bjork BC, Doyle JB, Beier DR. Identification of a Van der Woude syndrome mutation in the cleft palate 1 mutant mouse. Genesis. 2010 May;48(5):303-8.
Stottmann RW, Tran PV, Turbe-Doan A, Beier DR. Ttc21b is required to restrict sonic hedgehog activity in the developing mouse forebrain. Dev Biol. 2009 Nov 1;335(1):166-78.
Tran PV, Haycraft CJ, Besschetnova TY, Turbe-Doan A, Stottmann RW, Herron BJ, Chesebro AL, Qiu H, Scherz PJ, Shah JV, Yoder BK, Beier DR. THM1 negatively modulates mouse sonic hedgehog signal transduction and affects retrograde intraflagellar transport in cilia. Nat Genet. 2008 Apr;40(4):403-10.
Stottmann RW, Berrong M, Matta K, Choi M, Klingensmith J. The BMP antagonist Noggin promotes cranial and spinal neurulation by distinct mechanisms. Dev Biol. 2006 Jul 15;295(2):647-63.
Stottmann RW, Choi M, Mishina Y, Meyers EN, Klingensmith J. BMP receptor IA is required in mammalian neural crest cells for development of the cardiac outflow tract and ventricular myocardium. Development. 2004 May;131(9):2205-18.
Stottmann RW, Anderson RM, Klingensmith J. The BMP antagonists Chordin and Noggin have essential but redundant roles in mouse mandibular outgrowth. Dev Biol. 2001 Dec 15;240(2):457-73.
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Ying Sun, PhD
studies the physiologic roles of prosaposin using mouse models. Separate studies characterize the pathogenesis of neuronopathic Gaucher disease and its potential therapies.
513-636-0344
ying.sun@cchmc.org
Ying Sun, PhD
Academic Information
Associate Professor, UC Department of Pediatrics
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Specialties
Molecular pathogenesis and therapy of lysosomal storage diseases; glycosphingolipids metabolism; neurodegeneration
Education and Training
PhD: Pharmacology, University of Cincinnati, Cincinnati, OH, 1992. Post doctoral fellow: Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 1996.
Publications
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Sun Y, Ran H, Liou B, Quinn B, Zamzow M, Zhang W, Bielawski J, Kitatani K, Setchell KD, Hannun YA, Grabowski GA. Isofagomine in vivo effects in a neuronopathic Gaucher disease mouse. PLoS One. 2011 Apr 20;6(4):e19037.
Xu YH, Sun Y, Ran H, Quinn B, Witte D, Grabowski GA. Accumulation and distribution of α-synuclein and ubiquitin in the CNS of Gaucher disease mouse models. Mol Genet Metab. 2011 Apr;102(4):436-47. Xu YH, Jia L, Quinn B, Zamzow M, Stringer K, Aronow B, Sun Y, Zhang W, Setchell KD, Grabowski GA. Global gene expression profile progression in Gaucher disease mouse models. BMC Genomics. 2011 Jan 11;12:20. 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.
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Sivakumaran Theru Arumugam, PhD
Associate Director, Molecular Genetics Laboratory
Academic Information
Assistant Professor, UC Department of Pediatrics
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Specialties
Education and Training
MSc: Andhra University, India. PhD: All India Institute of Medical Sciences, New Delhi, India. Fellowship: Harvard Medical School. Certification: Clinical Molecular Genetics, 2007.
Publications
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Kopplin LJ, Igo RP Jr, Wang Y, Sivakumaran TA, Hagstrom SA, Peachey NS, Francis PJ, Klein ML, SanGiovanni JP, Chew EY, Pauer GJ, Sturgill GM, Joshi T, Tian L, Xi Q, Henning AK, Lee KE, Klein R, Klein BE, Iyengar SK. Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration. Genes Immun. 2010 Dec;11(8):609-21.
Ikram MK, Sim X, Jensen RA, Cotch MF, Hewitt AW, Ikram MA, Wang JJ, Klein R, Klein BE, Breteler MM, Cheung N, Liew G, Mitchell P, Uitterlinden AG, Rivadeneira F, Hofman A, de Jong PT, van Duijn CM, Kao L, Cheng CY, Smith AV, Glazer NL, Lumley T, McKnight B, Psaty BM, Jonasson F, Eiriksdottir G, Aspelund T; Global BPgen Consortium, Harris TB, Launer LJ, Taylor KD, Li X, Iyengar SK, Xi Q, Sivakumaran TA, Mackey DA, Macgregor S, Martin NG, Young TL, Bis JC, Wiggins KL, Heckbert SR, Hammond CJ, Andrew T, Fahy S, Attia J, Holliday EG, Scott RJ, Islam FM, Rotter JI, McAuley AK, Boerwinkle E, Tai ES, Gudnason V, Siscovick DS, Vingerling JR, Wong TY. Genetic determinants for retinal microcirculation: Genome-wide association study from the CHARGE consortium. PLoS Genet. 2010 Oct 28;6(10):e1001184.
SanGiovanni JP, Arking DE, Iyengar SK, Elashoff M, Clemons TE, Reed GF, Henning AK, Sivakumaran TA, Xu X, DeWan A, Agrón E, Rochtchina E, Sue CM, Wang JJ, Mitchell P, Hoh J, Francis PJ, Klein ML, Chew EY, Chakravarti A. Mitochondrial DNA variants of respiratory complex I that uniquely characterize haplogroup T2 are associated with increased risk of age-related macular degeneration. PLoS One. 2009;4(5):e5508.
Wang JJ, Rochtchina E, Smith W, Klein R, Klein BE, Joshi T, Sivakumaran TA, Iyengar S, Mitchell P. Combined effects of complement factor H genotypes, fish consumption, and inflammatory markers on long-term risk for age-related macular degeneration in a cohort. Am J Epidemiol. 2009 Mar 1;169(5):633-41.
Robertson NG, Jones SM, Sivakumaran TA, Giersch AB, Jurado SA, Call LM, Miller CE, Maison SF, Liberman MC, Morton CC. A targeted Coch missense mutation: a knock-in mouse model for DFNA9 late-onset hearing loss and vestibular dysfunction. Hum Mol Genet. 2008 Nov 1;17(21):3426-34.
Ruel J, Emery S, Nouvian R, Bersot T, Amilhon B, Van Rybroek JM, Rebillard G, Lenoir M, Eybalin M, Delprat B, Sivakumaran TA, Giros B, El Mestikawy S, Moser T, Smith RJ, Lesperance MM, Puel JL. Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice. Am J Hum Genet. 2008 Aug;83(2):278-92.
Edwards AO, Chen D, Fridley BL, James KM, Wu Y, Abecasis G, Swaroop A, Othman M, Branham K, Iyengar SK, Sivakumaran TA, Klein R, Klein BE, Tosakulwong N. Toll-like receptor polymorphisms and age-related macular degeneration. Invest Ophthalmol Vis Sci. 2008 Apr;49(4):1652-9.
Xing C, Sivakumaran TA, Wang JJ, Rochtchina E, Joshi T, Smith W, Mitchell P, Iyengar SK. Complement factor H polymorphisms, renal phenotypes and age-related macular degeneration: the Blue Mountains Eye Study. Genes Immun. 2008 Apr;9(3):231-9.
Sivakumaran TA, Resendes BL, Robertson NG, Giersch AB, Morton CC. Characterization of an abundant COL9A1 transcript in the cochlea with a novel 3' UTR: Expression studies and detection of miRNA target sequence. J Assoc Res Otolaryngol. 2006 Jun;7(2):160-72.
Sivakumaran TA, Shen P, Wall DP, Do BH, Kucheria K, Oefner PJ. Conservation of the RB1 gene in human and primates. Hum Mutat. 2005 Apr;25(4):396-409.
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Stephanie M. Ware, MD, PhD, FACMG
Co-Director, Cardiovascular Genetics
is a clinical geneticist who has basic and translational research programs in cardiac structure and function. Her lab studies the genetic and developmental basis of congenital heart defects, with specific interest in the molecular mechanisms controlling heart sidedness in developmental diseases such as X-linked heterotaxy. Translational research in pediatric cardiomyopathy is a second lab focus. Visit the Ware Lab.
513-803-1750
stephanie.ware@cchmc.org
Stephanie M. Ware, MD, PhD, FACMG
Co-Director, Cardiovascular Genetics
Associate Medical Director and Director of Research and Development, The Heart Institute Diagnostic Laboratory
Academic Information
Associate Professor, UC Department of Pediatrics
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Specialties
Clinical genetics; cardiovascular genetics; cardiomyopathy; cardiovascular development
Biography
Stephanie M. Ware, MD, PhD, is an Associate Professor of Pediatrics, University of Cincinnati College of Medicine. She is Co-Director of Cardiovascular Genetics in the Heart Institute as well as Associate Medical Director and Director of Research and Development of the Heart Institute Diagnostic Laboratory. She has a joint academic appointment in the Division of Human Genetics at Cincinnati Children’s Hospital. Dr. Ware graduated Summa cum laude with highest honors in Zoology from Butler University. She earned her MD and PhD degrees at the University of Cincinnati College of Medicine where she was elected to Alpha Omega Alpha Honor Society. She completed her pediatric residency and clinical genetics fellowship at Baylor College of Medicine in Houston, Texas. Dr. Ware’s research interests include the genetic and developmental basis of disorders of cardiac structure and function. Her research laboratory has made significant contributions in the areas of congenital heart defects and cardiomyopathy. Dr. Ware has received a number of scholarly awards including the Weinstein Cardiovascular Development Young Investigator Award, the March of Dimes Research Foundation Basil O’Connor Scholar Award, and the Burroughs Wellcome Clinical Scientist in Translational Research Award. She holds numerous grants and is currently Co-Chair of the American Heart Association Cardiovascular Development study section. In 2011, she was elected as the National Council Member Representing Genetics for the Society of Pediatric Research. Clinically, Dr. Ware evaluates and manages patients with genetic disorders and has specific expertise in cardiomyopathy and syndromes with cardiovascular disease. Dr. Ware is a member of the American Heart Association, the American Society for Human Genetics, the Society for Pediatric Research, and is Faculty of the American College of Medical Genetics. Visit Dr. Ware's Lab site.
Education and Training
MD, PhD: University of Cincinnati College of Medicine, Cincinnati, OH,1997. Residency: Pediatrics, Baylor College of Medicine, 2002. Fellowship: Medical Genetics, Baylor College of Medicine, 2002. American Board of Pediatrics, 2000, 2007. American Board of Medical Genetics in Clinical Genetics, 2002.
Publications
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Tariq M, Belmont JW, Lalani S, Smolarek T, Ware SM. SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing. Genome Biol. 2012. Epub ahead of print. Bedard JEJ, Haaning AM, Ware SM. Identification of a novel ZIC3 isoform and mutation screening in patients with heterotaxy and congenital heart disease patients. PLoS One. 2011;6(8):e23755. Czosek RJ, Haaning A, Ware SM. A mouse model of conduction system patterning abnormalities in heterotaxy syndrome. Pediatr Res. 2010;68:275-280. Sutherland M, Ware SM. Disorders of left-right asymmetry: heterotaxy and situs inversus. Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):307-17. Ware SM*, El-Hassan N, Kahler SG, Zhang Q, Ma Y-M, Miller E, Wong B, Spicer RL, Craigen WJ, Kozel BA, Grange DK, Wong L-J. Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes. J Med Genet. 2009;46: 308-314. *corresponding author Kogan JM, Miller E, Ware SM. High resolution SNP based microarray mapping of mosaic supernumerary marker chromosomes 13 and 17: delineating novel loci for apraxia. Am J Med Genet. 2009;149A: 887-893. Mohapatra B, Casey B, Li H, Ho-Dawson T, Smith L, Fernbach SD, Molinari L, Niesh SR, Jefferies JL, Craigen WJ, Towbin JA, Belmont JW, Ware SM. Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations. Hum Mol Genet. 2009;18: 861-871. Ware SM*, Quinn M, Ballard ET, Miller E, Uzark K, Spicer RL. Pediatric restrictive cardiomyopathy associated with a mutation in beta-myosin heavy chain. Clin Genet. 2008;73: 165-170. *corresponding author Bedard JEJ, Purnell JD, Ware SM. Nuclear import and export signals are essential for proper cellular trafficking and function of ZIC3. Hum Mol Genet. 2007;16: 187-198. Ware SM, Harutyunyan KG, Belmont JW. Heart defects in X linked heterotaxy: evidence for a genetic interaction of Zic3 with the Nodal signaling pathway. Dev Dyn. 2006 Jun;235:1631-1637.
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Kejian Zhang, MD, MBA
Director, Molecular Genetics Laboratory
performs clinical and translational research on the genetic etiology of primary immunodeficiencies, such as hemophagocytic lymphohistiocytosis (HLH), X-linked lymphoproliferative disease (XLP) and autoimmune lymphoproliferative syndrome (ALPS), and participates in the genetic pharmacology service, a multidisciplinary team assembled to advance personal and preventive medicine.
513-636-0121
kejian.zhang@cchmc.org
Kejian Zhang, MD, MBA
Director, Molecular Genetics Laboratory
Academic Information
Associate Professor, UC Department of Pediatrics
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Specialties
Clinical InterestsMolecular genetics diagnosis of inherited immunodeficiency disorders and other genetic conditions Research InterestsMolecular defects and molecular diagnosis of primary immunodeficiency diseases; Genetic aspects of predictive personalized medicine (pharmacogenetics)
Education and Training
MD: Tianjin Medical University, Tianjin, China, 1993 MBA: University of Cincinnati, College of Business Administration, 2001 Residency: Gong'an Hospital, Tianjin, China, 1993-1995 Fellowship: Clinical Molecular Genetics Fellow, Division of Human Genetics, Cincinnati Children's Hospital, 2002-2004
Publications
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Zhang K, Jordan MB, Klein P, Villanueva J, Risma K, Filipovic AH. .Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial hemophagocytic lymphohistiocytosis. Blood. 2011 August 31. Filipovich AH, Zhang K, Snow AL, Marsh RA. X-linked lymphoproliferative syndromes: brothers or distant cousins? Blood. 2010 Nov 4;116(18):3398-408. Marsh RA, Madden L, Kitchen BJ, Mody R, McClimon B, Jordan MB, Bleesing JJ, Zhang K, Filipovich AH. XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease. Blood. 2010 Aug 19;116(7):1079-82. Marsh RA, Satake N, Biroschak J, Jacobs T, Johnson J, Jordan MB, Bleesing JJ, Filipovich AH, Zhang K. STX11 mutations and clinical phenotypes of familial hemophagocytic lymphohistiocytosis in North America. Pediatr Blood Cancer. 2010 Jul 15;55(1):134-40.
Pestian J, Spencer M, Matykiewicz P, Zhang K, Vinks AA, Glauser T. Personalizing Drug Selection Using Advanced Clinical Decision Support. Biomed Inform Insights. 2009 Jun 23;2:19-29.
Prows CA, Nick TG, Saldaña SN, Pathak S, Liu C, Zhang K, Daniels ZS, Vinks AA, Glauser TA. Drug-metabolizing enzyme genotypes and aggressive behavior treatment response in hospitalized pediatric psychiatric patients. J Child Adolesc Psychopharmacol. 2009 Aug;19(4):385-94.
Marsh RA, Villanueva J, Kim MO, Zhang K, Marmer D, Risma KA, Jordan MB, Bleesing JJ, Filipovich AH. Patients with X-linked lymphoproliferative disease due to BIRC4 mutation have normal invariant natural killer T-cell populations. Clin Immunol. 2009 Jul;132(1):116-23.
Marsh RA, Villanueva J, Zhang K, Snow AL, Su HC, Madden L, Mody R, Kitchen B, Marmer D, Jordan MB, Risma KA, Filipovich AH, Bleesing JJ. A rapid flow cytometric screening test for X-linked lymphoproliferative disease due to XIAP deficiency. Cytometry B Clin Cytom. 2009 Sep;76(5):334-44.
Prausa SE, Fukuda T, Maseck D, Curtsinger KL, Liu C, Zhang K, Nick TG, Sherbotie JR, Ellis EN, Goebel J, Vinks AA. UGT genotype may contribute to adverse events following medication with mycophenolate mofetil in pediatric kidney transplant recipients. Clin Pharmacol Ther. 2009 May;85(5):495-500.
Zhang K, Biroschak J, Glass DN, Thompson SD, Finkel T, Passo MH, Binstadt BA, Filipovich A, Grom AA. Macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis is associated with MUNC13-4 polymorphisms. Arthritis Rheum. 2008 Sep;58(9):2892-6.
Grants
Macrophage Activation Syndrome Biomarkers in Systemic Juvenile Idiopathic Arthritis. Co-investigator. National Institute of Arthritis, Musculoskeletal and Skin Diseases. Aug 2007 - Dec 2012. MUNC13-4 gene Polymorphisms in Macrophage Activation syndrome and Systemic Juvenile Idiopathic Arthritis. Co-Investigator. National Institute of Health. Sept 2011 - Aug 2016.
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Ge Zhang, MD, PhD
is a statistical geneticist who has research interest inunderstanding the genetic and evolutionary architecture of human complex traits with significant health impacts. His current studies include genome-wide association analysis of metabolic syndrome andrelated quantitative traits; mathematical modeling of genetic variation and its contribution to human complex phenotypes.
513-636-7219
ge.zhang@cchmc.org
Ge Zhang, MD, PhD
Academic Information
Assistant Professor, UC Department of Pediatrics
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Specialties
Statistical genetics; population genetics
Education and Training
MD: West China University of Medical Sciences, Chengdu, China, 1997. PhD: University of Cincinnati, Cincinnati, OH, 2007.
Publications
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Karns R, Zhang G, Jeran N, Havas-Augustin D, Missoni S, Niu W, Indugula SR, Sun G, Durakovic Z, Narancic NS, et al. Replication of genetic variants from genome-wide association studies with metabolic traits in an island population of the Adriatic coast of Croatia. Eur J Hum Genet. 2011;19(3):341-6. Zhang G, Karns R, Narancic NS, Sun G, Cheng H, Missoni S, Durakovic Z, Rudan P, Chakraborty R, Deka R. Common SNPs in FTO gene are associated with obesity related anthropometric traits in an island population from the eastern Adriatic coast of Croatia. PLoS One. 2010;5(4):e10375. Nebert DW, Zhang G, Vesell ES. From human genetics and genomics to pharmacogenetics and pharmacogenomics: past lessons, future directions. Drug Metab Rev. 2008;40(2):187-224. Zhang G, Nebert DW, Chakraborty R, Jin L. Statistical power of association using the extreme discordant phenotype design. Pharmacogenet Genomics. 2006;16(6):401-13. Martin TM, Zhang G, Luo J, Jin L, Doyle TM, Rajska BM, Coffman JE, Smith JR, Becker MD, Mackensen F, et al. A locus on chromosome 9p predisposes to a specific disease manifestation, acute anterior uveitis, in ankylosing spondylitis, a genetically complex, multisystem, inflammatory disease. Arthritis Rheum. 2005;52(1):269-74. Zhang G, Luo J, Bruckel J, Weisman MA, Schumacher HR, Khan MA, Inman RD, Mahowald M, Maksymowych WP, Martin TM, et al. Genetic studies in familial ankylosing spondylitis susceptibility. Arthritis Rheum. 2004;50(7):2246-54. Akey JM, Zhang G, Zhang K, Jin L, Shriver MD. Interrogating a high-density SNP map for signatures of natural selection. Genome Res. 2002;12(12):1805-14. Zhang G, Zhang S, Chen W, Qiu W, Wu H, Wang J, Luo J, Gu X, Cotton RG. Go!Poly: A gene-oriented polymorphism database. Hum Mutat. 2001;18(5):382-7.
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