Human Genetics

Research Faculty

A photo of Nancy Doan Leslie.

Nancy Doan Leslie, MD Director, Clinical Genetics Fellowship Program

Nancy Doan Leslie, MD, 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

A photo of Nancy Doan Leslie.

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Nancy Doan Leslie, MD

Director, Clinical Genetics Fellowship Program

Academic Affiliations

Professor, UC Department of Pediatrics

Phone 513-636-2438

Fax 513-636-7297

Email nancy.leslie@cchmc.org

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Clinical & Research Interests

Clinical

Galactosemia; PKU; inborn errors; newborn screening; lysosomal storage disease

Research

Focus 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, 1975-1979.

Internship and Residency: University of Cincinnati College of Medicine, Cincinnati, OH.

Fellowship: Pediatric Endocrinology, Cincinnati Children's Hospital Medical Center,OH, 1982-1985; Clinical Genetics and Clinical Biochemical Genetics, Cincinnati Children's Hospital Medical Center, OH, 1993-1995.

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.

View PubMed Publications

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.

A photo of William Nichols.

William C. Nichols, PhD Director, National Biological Sample and Data Repository for PAH

William C. Nichols, PhD, investigates the genetic susceptibility of pulmonary arterial hypertension. His lab was instrumental in identifying the first gene associated with the disorder. He is director of the NHLBI funded National Biological Sample and Data Repository for PAH, an effort to bank biological samples, clinical and genetic data for 3,000 PAH patients. Genetic analysis of murine pulmonary hypertension and Parkinson disease are also ongoing research interests.

Visit the Nichols Lab.

513-636-4717 bill.nichols@cchmc.org

A photo of William Nichols.

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William C. Nichols, PhD

Director, National Biological Sample and Data Repository for PAH

Associate Director of Research, Human Genetics

Academic Affiliations

Professor, UC Department of Pediatrics

Phone 513-636-4717

Email bill.nichols@cchmc.org

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Research Interests

Dr. Nichols investigates the genetic susceptibility of pulmonary arterial hypertension. His lab was instrumental in identifying the first gene associated with the disorder. He is director of the NHLBI funded National Biological Sample and Data Repository for PAH, an effort to bank biological samples, clinical and genetic data for 3,000 PAH patients. Genetic analysis of murine pulmonary hypertension and Parkinson disease are also ongoing research interests.

Visit the Nichols Lab.

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.

View PubMed Publications

Nalls M, Duran R, Lopez G, Kurzawa-Akanbi M, McKeith I, Chinnery P, Morris C, Theuns J, Crosiers D, Cras P, Engelborghs S, De Deyn P, Van Broeckhoven C, Mann D, Snowden J, Pickering-Brown S, Halliwell N, Davidson Y, Gibbons L, Harris J, Sheerin U, Bras J, Hardy J, Clark L, Marder K, Honig L, Berg D, Maetzler W, Brockmann K, Gasser T, Novelino F, Quattrone A, Annesi G, De Marco E, Rogaeva E, Masellis M, Black S, Bilbao J, Foroud T, Ghetti B, Nichols W, Pankratz N, Halliday G, Lesage S, Klebe S, Durr A, Duyckaerts C, Brice A, Giasson B, Trojanowski J, Hurtig H, Tayebi N, Landazabal C, Knight M, Keller M, Singleton A, Wolfsberg T, Sidransky E. A multicenter study of glucocerebrosidase mutations in dementia with lewy bodies. JAMA Neurol. 2013;70:727-735.

Mushaben EM, Hershey GK, Pauciulo MW, Nichols WC, Le Cras TD. Chronic allergic inflammation causes vascular remodeling and pulmonary hypertension in BMPR2 hypomorph and wild-type mice. PLoS ONE. 2012;6:e32468.

Chartier-Harlin MC, Dachsel JC, Vilariño-Güell C, Lincoln SJ, Leprêtre F, Hulihan MM, Kachergus J, Milnerwood AJ, Tapia L, Song MS, Le Rhun E, Mutez E, Larvor L, Duflot A, Vanbesien-Mailliot C, Kreisler A, Ross OA, Nishioka K, Soto-Ortolaza AI, Cobb SA, Melrose HL, Behrouz B, Keeling BH, Bacon JA, Hentati E, Williams L, Yanagiya A, Sonenberg N, Lockhart PJ, Zubair AC, Uitti RJ, Aasly JO, Krygowska-Wajs A, Opala G, Wszolek ZK, Frigerio R, Maraganore DM, Gosal D, Lynch T, Hutchinson M, Bentivoglio AR, Valente EM, Nichols WC, Pankratz N, Foroud T, Gibson RA, Hentati F, Dickson DW, Destée A, Farrer MJ. Translation initiator EIF4G1 mutations in familial Parkinson disease. Am J Hum Genet. 2011; 89:398-406.

Latourelle JC, Pankratz N, Dumitriu A, Wilk JB, Goldwurm S, Pezzoli G, Mariani CB, DeStefano AL, Halter C, Gusella JF, Nichols WC, Myers RH, Foroud T, PROGENI Investigators, Coordinators, and Molecular Genetic Laboratories, GenePD Investigators, Coordinators, and Molecular Genetic Laboratories. Genomewide association study for onset age in Parkinson Disease. BMC Med Genet. 2009;10:98.

Nichols WC, Pankratz N, Hernandez D, Paisán-Ruíz C, Jain S, Halter CA, Michaels VE, Reed T, Rudolph A, Shults CW, et al. Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease. Lancet. 2005;365:410-412.

Zhang B, Cunningham MA, Nichols WC, Bernat JA, Seligsohn U, Pipe SW, McVey JH, Schulte-Overberg U, de Bosch NB, Ruiz-Saez A, et al. Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex. Nat Genet. 2003;34:220-225.

Pankratz N, Nichols WC, Uniacke SK, Halter C, Rudolph A, Shults C, Conneally PM, Foroud T. Genome screen to identify susceptibility genes for Parkinson disease in a sample without parkin mutations. Am J Hum Genet. 2002;71:124-135.

Levy GG, Nichols WC, Lian EC, Foroud T, McClintick JN, McGee BM, Yang AY, Siemieniak DR, Stark KR, Gruppo R, et al. Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. Nature. 2001;413:488-494.

Lane KB, Machado RD, Pauciulo MW, Thomson JR, Phillips JA 3rd, Loyd JE, Nichols WC, Trembath RC. Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. The International PPH Consortium. Nat Genet. 2000;26:81-84.

Nichols WC, Seligsohn U, Zivelin A, Terry VH, Hertel CE, Wheatley MA, Moussalli MJ, Hauri HP, Ciavarella N, Kaufman RJ, et al. Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII. Cell. 1998;93:61-70.

National Biological Sample and Data Repository for Pulmonary Arterial Hypertension. National Institutes of Health (NIH) /National Heart, Lung and Blood Institute (NHLBI). March 2012-Feb 2017. R24 HL10533.

A photo of Brian Dawson.

D. Brian Dawson, PhD Director, Clinical Laboratories, Division of Human Genetics

D. Brian Dawson, PhD, is a clinical molecular geneticist who has translated basic science findings into clinical molecular assays since 1988. He has developed molecular diagnostic assays in the areas of genetics, virology, hematopathology and neurology. Dr. Dawson anticipates collaborative development of genomic testing capabilities within the Division of Human Genetics to support the needs of the patients served by Cincinnati Children's Hospital Medical Center.

513-803-9121 d.dawson@cchmc.org

A photo of Brian Dawson.

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D. Brian Dawson, PhD

Director, Clinical Laboratories, Division of Human Genetics

Academic Affiliations

Professor, UC Department of Pediatrics

Phone 513-803-9121

Email d.dawson@cchmc.org

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D. Brian Dawson, PhD, is director of the clinical laboratories within the Division of Human Genetics at Cincinnati Children’s Hospital Medical Center. He received his doctorate in Biomedical Sciences at Wright State and did fellowships in Clinical Chemistry and Clinical Molecular Genetics at Mayo Clinic, Rochester.

He directed clinical laboratories at Children’s Medical Center and at UT Southwestern Medical Center in Dallas where he implemented biochemical genetic and molecular diagnostic assays to support various clinical services including clinical biochemical genetics, pediatric transplant, hematology and adult gastroenterology. He developed quantitative molecular virology assays in the 90’s for 8 human herpes viruses to support the pediatric liver and renal transplant services. The assay also identified the presence of HHV8 in body-cavity lymphomas in HIV positive patients.

Subsequently, he served as co-director of the Clinical Molecular Genetics Lab, Chair for the Division of Laboratory Genetics and vice-chair for business development, Department of Lab Medicine and Pathology at Mayo Clinic Rochester. He developed several assays based on sequencing, fragment analysis, genotyping, multiplex ligation-dependent probe amplification (MLPA) and methylation-sensitive MLPA. He partnered with neurology to develop clinically-relevant targeted gene panels based on next-generation sequencing. He also used long-read sequencing technology (PacBio) to develop a proof-of-concept assay to detect expansion of nucleotide repeat regions.

Dr. Dawson has mentored several residents and fellows over the years most recently as director of the Clinical Molecular Genetics Fellowship Program, Mayo School of Graduate Medical Education.

Dr. Dawson has served the clinical laboratory community at the national level as chair of the Pediatric Division, American Association for Clinical Chemistry, chair of the Infectious Disease Division and chair of the Genetics Division, Association for Molecular Pathology.

Education and Training

PhD: Wright State University, Dayton, OH, 1986.

Fellowship: Mayo Clinic, Rochester, MN, 1986-88.

Certification: Clinical Chemistry, 1992; Clinical Molecular Genetics, 2005 (renewed: 2015).

View PubMed Publications

Wang W, Wang C, Dawson DB, Thorland EC, Lundquist PA, Eckloff BW, Wu Yanhong, Baheti S, Evans JM, Scherer SS, Dyck PJ, Klein CJ. Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy. Neurology. 2016 May 10;86(19):1762-71.

Aisner DL, Berry A, Dawson DB, Hayden RT, Joseph L, Hill CE. A Suggested Molecular Pathology Curriculum for Residents: A Report of the Association for Molecular Pathology. J Mol Diagn. 2016 Mar;18(2):153-62.

Aypar U, Hoppman NL, Thorland EC, Dawson DB. Patients with mosaic methylation patterns of the Prader-Willi/Angelman Syndrome critical region exhibit AS-like phenotypes with some PWS features. Mol Cytogenet. 2016;9:26.

Kipp BR, Roellinger SE, Lundquist PA, Highsmith WE, Dawson DB. Development and clinical implementation of a combination deletion PCR and multiplex ligation-dependent probe amplification assay for detecting deletions involving the human alpha-globin gene cluster. J Mol Diagn. 2011 Sep;13(5):549-57.

Hoppman-Chaney NL, Dawson DB, Nguyen L, Sengupta S, Reynolds K, McPherson E, Velagaleti G. Partial hexasomy for the Prader-Willi-Angelman syndrome critical region due to a maternally inherited large supernumerary marker chromosome. Am J Med Genet A. 2010 Aug;152A(8):2034-8.

A photo of Min-Xin Guan.

Min-Xin Guan, PhD

Min-Xin Guan, PhD, 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

A photo of Min-Xin Guan.

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Min-Xin Guan, PhD

Academic Affiliation

Adjunct Professor, UC Department of Pediatrics

Phone 513-636-3337

Fax 513-636-2261

Email min-xin.guan@cchmc.org

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Research Interests

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.

View PubMed Publications

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.

A photo of Robert J. Hopkin.

Robert J. Hopkin, MD Co-Director, 22Q-VCFS Center

Robert J. Hopkin, MD, 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

A photo of Robert J. Hopkin.

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Robert J. Hopkin, MD

Co-Director, 22Q-VCFS Center

Academic Affiliations

Associate Professor, UC Department of Pediatrics

Phone 513-636-4760

Fax 513-636-7297

Email rob.hopkin@cchmc.org

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Clinical & Research Interests

Clinical

Fabry disease and other lysosomal storage diseases; craniofacial genetics; 22q11 deletion; clinical intervention for genetic disease; neurofibromatosis; dysmorphology; prenatal diagnosis of genetic syndromes

Research

Fabry disease; Robin sequence; 22q11 deletion; neurofibromatosis; craniofacial genetics; chromosomal anomalies

Robert J. Hopkin, MD, is an associate professor of clinical pediatrics at Cincinnati Children's Hospital Medical Center within the University of Cincinnati College of Medicine. 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.

View PubMed Publications

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.

A photo of Taosheng Huang.

Taosheng Huang, MD, PhD

Taosheng Huang, MD, PhD, studies the molecular basis of genetic syndromes, applies the discoveries from rare diseases to common conditions, and develops treatments for genetic diseases.

513-803-9260 taosheng.huang@cchmc.org

A photo of Taosheng Huang.

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Taosheng Huang, MD, PhD

Academic Affiliations

Professor, UC Department of Pediatrics

Phone 513-803-9260

Email taosheng.huang@cchmc.org

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Human genetics; mitochondrial diseases.

Visit the Huang Lab.

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.

Simon M, Richard EM, Wang X, Shahzad M, Huang VH, Qaiser TA, Potluri P, Mahl SE, Davila A, Nazli S, Hancock S, Yu M, Gargus J, Chang R, Al-Sheqaih N, Newman WG, Abdenur J, Starr A, Hegde R, Dorn T, Busch A, Park E, Wu J, Schwenzer H, Flierl A, Florentz C, Sissler M, Khan SN, Li R, Guan MX, Friedman TB, Wu DK, Procaccio V, Riazuddin S, Wallace DC, Ahmed ZM, Huang T, Riazuddin S. Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome. PLoS Genet. 2015 Mar 25;11(3):e1005097.

Abrams AJ, Hufnagel RB, Rebelo A, Zanna C, Patel N, Gonzalez M, Campeanu J, Griffin L, Groenewald S, Strickland A, Tao F, Speziani F, Caporali L, Ahmed ZM, Sund KL, Wang X, Krueger LA, Peng Y, Prada CE, Prows CA, Schorry EK, Antonellis A, Zimmerman HH, Abdul-Rahman OA, Yang Y, Downes S, Prince J, Nemeth A, Carelli V, Huang T*, Zuchner S*, Dallman J*. Mutations in the UGO1-like protein SLC25A46 cause an optic atrophy spectrum disorder. Nature Genetics. 2015. * corresponding authors.

Ma H, Folmes CDL, Morey R, Ahmed R, Poulton J, Wang X, Huang T, Laurent LC, Terzic A, Amato P, Wolf DP, Mitalipov S. Genetic Correction and Metabolic Rescue of Pluripotent Cells from Patients with mtDNA Disease. Nature. 2015.

Hufnagel RB, Arno G, Hein ND, Hersheson J, Prasad M, Anderson Y, Krueger LA, Gregory LC, Stoetzel C, Jaworek TJ, Hull S, Li A, Plagnol V, Willen CM, Morgan TM, Prows CA, Hegde RS, Riazuddin S, Grabowski GA, Richardson RJ, Dieterich K, Huang T, Revesv T, Martinez-Barbera JP, Sisk RA, Jefferies C, Houlden H, Dattani MT, Fink JK, Dollfus H, Moore AT, Ahmed ZM. Neuropathy Target Esterase impairments result in a diverse spectrum of childhood and adult neurodegenerative disorders. Journal of Medical Genetics. 2015;52:85-94.

Riazifar H, Sun G, Wang X, Rupp A, Vemaraju S, Ross-Cisneros FN, Lang RA, Sadun AA, Hattar S, Guan M, Huang T. Phenotypic and Functional Characterization of Bst+/- Mouse Retina. Disease Model and Mechanisms. 2015.

Jiang P, Liang M, Liu X, Zhang M, Fu Q, Zhang S, Gao M, Zhang Z, Zhao F, Ji Y, Zhang J, Tong Y, Sun Y, Zhou X, Huang T, Qu J, Guan M. Mitochondrial ND4 mutations in 1281 Han Chinese subjects with Leber’s hereditary optic neuropathy. IOVS. 2015.

Barber JCK, Rosenfeld JA, Graham Jr JM, Kramer N, Lachlan K, Bateman MS, Collinson MN, Stadheim BF, Turner CLS, Stevens AK, Delk P, Weaver DD, Gauthier JN, Reimschisel TE, Qureshi AM, Dabir TA, Humphries MV, Marble M, Huang T, Beal SJ, Massiah J, Taylor EJ, Wynn S. Inside the 8p23.1 duplication syndrome; nine microduplications of likely or uncertain clinical significance. American Journal of Medical Genetics. 2015.

Kwong JQ, Davis J, Baines CP, Sargent MA, Karch J, Wang X, Huang T, Molkentin JD. Molkentin Genetic deletion of the mitochondrial phosphate carrier desensitizes the mitochondrial permeability transition pore and causes cardiomyopathy. Cell Death Differ. 2014 Aug;21(8):1209-17.

Gong S, Peng Y, Jiang P, Wang M, Fan M, Wang X, Zhou H, Li H, Yan Q, Huang T, Guan MX. A deafness-associated tRNAHis mutation alters the mitochondrial function, ROS production and membrane potential. Nucleic Acids Res. 2014 Jul;42(12):8039-48.

Yang L, Tan Z, Xue L, Guan M, Huang T, Li R. Species identification by analyses of mitochondrial rRNA genes. Scientific Reports. 2014.

A photo of Lisa Martin.

Lisa J. Martin, PhD

Lisa J. Martin, PhD, is a statistical geneticist. Dr. Martin’s goal is to advance knowledge of disease processes by integrating statistical genetics with biology and epidemiology. Through independent and collaborative research, she expects to translate genetic findings to clinical utility by developing of innovative methods and aiding researchers in designing appropriate studies to address the questions at hand.

513-636-1244 lisa.martin@cchmc.org

A photo of Lisa Martin.

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Lisa J. Martin, PhD

Academic Affiliations

Professor, UC Department of Pediatrics

Phone 513-636-1244

Fax 513-636-7509

Email lisa.martin@cchmc.org

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Research Interests

Statistical genetics; allergic conditions; pediatric heart conditions; obesity

As a statistical geneticist, Dr. Martin’s goal is to advance knowledge of underlying disease processes by improving our understanding of genetic variation in human populations through the integration of statistical genetics with biology and epidemiology. Since joining Cincinnati Children’s in 2002, Dr. Martin has become a leader in quantitative genetics through independent and collaborative research, leadership, and teaching/mentoring. Her independent research focuses on development of novel statistical methods and the evaluation of methods for next generation data.

Recently, Dr. Martin published a novel statistical method (Variant Impact On Linkage Effect Test; VIOLET), which overcomes a methodological barrier to gene discovery. Her collaborative research focuses on allergic conditions (asthma, eosinophilic esophagitis), pediatric heart conditions, and obesity. In addition, Dr. Martin assists researchers with an interest in incorporating genetics into their research. At the end of 2013, Dr. Martin had published 116 peer-reviewed publications (journals include Nature Genetics, PNAS, Journal of Clinical Endocrinology and Metabolism) and two book chapters.

She has a strong commitment to teaching and mentorship. Beyond teaching, she has mentored over 30 individuals. Additionally, Dr. Martin is the co-director of the Cincinnati Genomic Control Cohort, an institutional resource of 1,020 population representative children with phenotypic and genetic information. Under Dr. Martin’s leadership, utilization of this cohort has increased.

In summary, Dr. Martin’s work has resulted in the development of an exciting research program as well as fruitful collaborations while balancing mentoring and service. She expects that this research will enable the translation of genetic findings to clinical utility through the development of innovative methods and greater capacity to perform complex genetic analyses particularly given the rapid evolution of technologies.

Education and Training

PhD: (with Honors) University of Kansas, Lawrence, KS, 1999.

Post-doctoral fellow: Southwest Foundation for Biomedical Research, San Antonio, TX, 2002.

View PubMed Publications

Martin LJ, Ding L, Zhang X, Kissebah AH, Olivier M, Benson DW. A novel method, the Variant Impact On Linkage Effect Test (VIOLET), leads to improved identification of causal variants in linkage regions. Eur J Hum Genet. 2014 Feb;22(2):243-7.

Martin LJ, Gupta J, Jyothula SSSK, Butsch Kovacic M, Biagini Myers JM, Patterson TL, Ericksen MB, He H, Gibson AM, Baye TM, Amirisetty S, Tsoras AM, Sha Y, Eissa NT, Hershey GK. Functional variant in the autophagy-related 5 gene promoter is associated with childhood asthma. PLoS One. 2012;7(4):e33454.

Kottyan LC, Woo JG, Keddache M, Banach W, Crimmins NA, Dolan LM, Martin LJ. Novel variations in the adiponectin gene (ADIPOQ) may affect distribution of oligomeric complexes. SpringerPlus. 2012 Dec;1(1):66.

Sadhasivam S, Chidambaran C, Ngamprasertwong P, Esslinger HR, Prows C, Zhang X, Martin LJ, McAuliffe J. Race and unequal burden of perioperative pain and opioid related adverse effects in children. Pediatrics. 2012 May;129(5):832-8.

Martin LJ, Lee SY, Couch SC, Morrison J, Woo JG. Shared genetic contributions of fruit and vegetable consumption with body mass index in families 20 years after sharing a household. Am J Clin Nutr. 2011 Oct;94(4):1138-43.

Martin LJ, Hinton RB, Zhang Z, Cripe LH, Benson DW. Aorta measurements are heritable and influenced by bicuspid aortic valve. Front Genet. 2011 Sep 5;2:61.

Martin LJ, Woo JG, Morrison JA. Evidence Of Shared Genetic Effects Between Pre And Post Obesity Epidemic BMI Levels. Obesity. 2010 Jul;18(7):1378-82.

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.

Martin LJ, Ramachandran V, Cripe LH, Hinton RB, Andelfinger G, Tabangin M, Shooner K, Keddache M, Benson DW. Evidence in Favor of Linkage to Human Chromosomal Regions 18q, 5q and 13q for Bicuspid Aortic Valve and Associated Cardiovascular Malformations. Hum Gen. 2007 Apr;121(2):275-84.

Martin LJ, Woo JG, Daniels SR, Goodman E, Dolan LM. The Relationships of Adiponectin with Insulin and Lipids Are Strengthened with Increasing Adiposity. J Clin Endocrinol Metab. 2005 Jul;90(7):4255-9.

A photo of Derek Neilson.

Derek E. Neilson, MD

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

A photo of Derek Neilson.

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Derek E. Neilson, MD

Academic Affiliations

Assistant Professor, UC Department of Pediatrics

Phone 513-636-4760

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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

BA: Biology, Johns Hopkins University, Baltimore, MD, 1993.

MD: Oregon Health Sciences University, Portland, OR, 1998.

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.

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.

A photo of Manoj Pandey.

Manoj K. Pandey, PhD

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.

Visit the Pandey Lab.

513-803-1694 manoj.pandey@cchmc.org

A photo of Manoj Pandey.

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Manoj K. Pandey, PhD

Academic Affiliations

Instructor, UC Department of Pediatrics

Phone 513-803-1694

Email manoj.pandey@cchmc.org

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Clinical & Research Interests

Clinical

Immunology

Research

Lipid arbitrated antibodies and cytokines comebacks in several lysosomal diseases.

Visit the Pandey Lab.

Manoj Kumar Pandey is a scientist in the Division of Human Genetics at Cincinnati Children's Hospital Medical 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 Medical 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.

Iankov ID*, Pandey MK* , 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. *shared first authorship.

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. J Exp Med 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. Cell Microbiol 2010, 12(10): 1506–1516.

Pandey MK, Rani R, Zhang W, Setchell K, Grabowski GA. Immunological cell type characterization and Th1-Th17 cytokine production in a mouse model of Gaucher disease. Mol Genet Metab 2012, 106:310-322.

Karsten CM*, Pandey MK*, Figge J, Taylor PR, McDonald JU, Strait RT, Harris NL, Koehl G, Brown GD, Finkelman FD, Koehl J. Galactosylated IgG1 links FcγRIIB and Dectin-1 to block complement-mediated inflammation. Nat Med 2012,18(9):1401-1406. *shared first authorship.

Pandey, MK., Grabowski GA. Immunological cells and functions in Gaucher disease. Crit Revi Onco 2013, 18(3): 197–220.

Stemerding AM, Köhl J, Pandey MK, Kuipers A, Leusen JH, Boross P, Nederend M, Vidarsson G, Weersink AY, van de Winkel JG, van Kessel KP, van Strijp JA. Staphylococcus aureus formyl peptide receptor-like 1 inhibitor (FLIPr) and its homologue FLIPr-like are potent FcγR antagonists that inhibit IgG-mediated effector functions. J Immunol 2013; 191(1): 353-362.

Pandey MK. Molecular Basis for Downregulation of C5a-Mediated Inflammation by IgG1 Immune Complexes in Allergy and Asthma. Curr Allergy Asthma Rep 2013; 2013(6): 596-606.

Pandey MK , Nicholas JA, Xu Y, Zhang W, Setchell K, Grabowski GA. Gaucher Disease: Chemotactic factors and immunological cell invasion in a mouse model. Mol Genet Metab 2014, 111(2): 163-171.

A photo of Daniel Prows.

Daniel R. Prows, PhD

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

A photo of Daniel Prows.

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Daniel R. Prows, PhD

Academic Affiliations

Associate Professor, UC Department of Pediatrics

Phone 513-636-5440

Fax 513-636-3486

Email daniel.prows@cchmc.org

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Research Interests

Visit the Prows Lab.

Education and Training

BS: Biology, University of Cincinnati, Cincinnati, OH, 1983.

BS: Pharmacy, University of Cincinnati, Cincinnati, OH, 1988.

PhD: Pharmaceutical Sciences, University of Cincinnati, Cincinnati, OH, 1995.

View PubMed Publications

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.

A photo of Howard Saal.

Howard M. Saal, MD, FACMG Director, Clinical Genetics

Howard M. Saal, MD, FACMG, 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

A photo of Howard Saal.

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Howard M. Saal, MD, FACMG

Director, Clinical Genetics

Director, Cytogenetics Laboratory

Co-Director, 22Q-VCFS Center

Medical Director, Craniofacial Center

Academic Affiliations

Professor, UC Department of Pediatrics

Phone 513-636-2438

Fax 513-636-7297

Email howard.saal@cchmc.org

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Clinical & Research Interests

Clinical

Craniofacial disorders; community genetics; growth disorders; 22Q-VCFS.

Research

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.

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.

View PubMed Publications

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.

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. Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers: an update. Int J Cancer. 2006;118(9): 2281-4.

A photo of Elizabeth Schorry.

Elizabeth K. Schorry, MD Member, Division of Human Genetics

Elizabeth K. Schorry, MD, 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

A photo of Elizabeth Schorry.

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Elizabeth K. Schorry, MD

Member, Division of Human Genetics

Academic Affiliations

Professor, UC Department of Pediatrics

Phone 513-636-0121

Fax 513-636-7297

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Clinical & Research Interests

Clinical

Genetic disorders; congenital anomalies; neurofibromatosis; tuberous sclerosis; bone disease in neurofibromatosis; Ehlers-Danlos syndrome

Research

History 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.

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 Cincinnati Children's Hospital Medical Center. She has been a faculty member in the Division of Human Genetics at Cincinnati Children's 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, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 1982-1985.

Fellowship: Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 1985-1988.

Certification: American Board of Pediatrics, 1987; Clinical Genetics, American Board of Medical Genetics, 1987.

View PubMed Publications

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.

A photo of Teresa Smolarek.

Teresa Smolarek, PhD Director, Cytogenetics Laboratory

Teresa Smolarek, PhD, 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

A photo of Teresa Smolarek.

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Teresa Smolarek, PhD

Director, Cytogenetics Laboratory

Academic Affiliations

Associate Professor, UC Department of Pediatrics

Phone 513-636-7221

Fax 513-636-4373

Email teresa.smolarek@cchmc.org

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Research Interests

Genetic basis of pulmonary lymphangioleiomyomatosis (LAM); cancer genetics; clinical cytogenetics

Education and Training

PhD: Medical Genetics, Indiana University School of Medicine, Indianapolis, IN, 1995.

Certification: American Board of Medical Genetics, Clinical Cytogenetics, 2002; Clinical Molecular Genetics, 2005.

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.

A photo of Rolf Stottmann.

Rolf W. Stottmann, PhD

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.
Visit the Stottmann Lab.

513-636-7136 rolf.stottmann@cchmc.org

A photo of Rolf Stottmann.

High Res

Rolf W. Stottmann, PhD

Academic Affiliations

Assistant Professor, UC Department of Pediatrics

Phone 513-636-7136

Email rolf.stottmann@cchmc.org

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Research Interests

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.

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.

A photo of Ying Sun.

Ying Sun, PhD

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

A photo of Ying Sun.

High Res

Ying Sun, PhD

Academic Affiliations

Associate Professor, UC Department of Pediatrics

Phone 513-636-0344

Fax 513-636-3486

Email ying.sun@cchmc.org

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Research Interests

Molecular pathogenesis and therapy of lysosomal storage diseases; glycosphingolipids metabolism; neurodegeneration.

Visit the Sun Lab.

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.

View PubMed Publications

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.

A photo of Lauren Walters-Sen.

Lauren C. Walters-Sen, PhD, FACMG Director, Cytogenetics Laboratory, Division of Human Genetics

Lauren C. Walters-Sen, PhD, FACMG, collaborates with clinical faculty to study inherited disorders utilizing cytogenetic techniques.

513-803-4474 lauren.walters-sen@cchmc.org

A photo of Lauren Walters-Sen.

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Lauren C. Walters-Sen, PhD, FACMG

Director, Cytogenetics Laboratory, Division of Human Genetics

Academic Affiliations

Assistant Professor, UC Department of Pediatrics

Phone 513-803-4474

Email lauren.walters-sen@cchmc.org

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Education and Training

PhD: Vanderbilt University, Nashville, TN, 2010.

Fellowship: Clinical Cytogenetics & Clinical Molecular Genetics, Nationwide Children's Hospital, Columbus, OH, 2011-2013.

Certification: Clinical Cytogenetics, 2013; Clinical Molecular Genetics, 2015.

View PubMed Publications

Walters-Sen LC, Windemuth K, Angione K, Nandhlal J, Milunsky JM. Familial transmission of 5p13.2 duplication due to maternal der(X)ins(X;5). Eur J Med Genet. 2015 May;58(5):305-9.

Walters-Sen LC, Hashimoto S, Thrush DL, Reshmi S, Gastier-Foster J, Astbury C, Pyatt RE. Variability in pathogenicity prediction programs: Impact on clinical diagnostics. Mol Genet Genomic Med. 2015 March;3(2):99-110.

Walters-Sen LC, Thrush DL, Hickey SE, Gastier-Foster JM, Pyatt R, Astbury C. Atypical breakpoint in a (6;17) translocation case of acampomelic campomelic dysplasia. Eur J Med Genet. 2014 Jul;57(7):315-8.

Hickey SE, Walters-Sen L, Mosher TM, Pfau RB, Pyatt R, Snyder PJ, Sotos JF, Prior TW. Molecular resolution of an X-linked hypogonadism, gynecomastia, mental retardation, short stature, and obesity syndrome. Am J Med Genet A. 2013 Sep;161(9):2294-9.

Hickey SE, Thrush DL, Walters-Sen L, Reshmi SC, Astbury C, Gastier-Foster JM, Atkin J. A case of an atypically large proximal 15q deletion as cause for Prader-Willi syndrome arising from a de novo unbalanced translocation. Eur J Med Genet. 2013 Sep;56(9):510-4.

A photo of Ge Zhang.

Ge Zhang, MD, PhD

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

A photo of Ge Zhang.

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Ge Zhang, MD, PhD

Academic Affiliations

Associate Professor, UC Department of Pediatrics

Phone 513-636-7219

Email ge.zhang@cchmc.org

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Statistical genetics; population genetics

Education and Training

MD: West China University of Medical Sciences, Chengdu, China, 1997.

PhD: University of Cincinnati, Cincinnati, OH, 2007.

View PubMed Publications

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.

A photo of Kejian Zhang.

Kejian Zhang, MD, MBA, FACMG Director, Molecular Genetics Laboratory

Kejian Zhang, MD, MBA, FACMG, 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

A photo of Kejian Zhang.

High Res

Kejian Zhang, MD, MBA, FACMG

Director, Molecular Genetics Laboratory

Academic Affiliations

Associate Professor, UC Department of Pediatrics

Phone 513-636-0121

Fax 513-636-2261

Email kejian.zhang@cchmc.org

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Clinical & Research Interests

Clinical

Molecular genetics diagnosis of inherited immunodeficiency disorders and other genetic conditions

Research

Molecular 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: College of Business Administration, University of Cincinnati, Cincinnati, OH, 2001.

Residency: Gong'an Hospital, Tianjin, China, 1993-1995.

Fellowship: Clinical Molecular Genetics Fellow, Division of Human Genetics, Cincinnati Children's Hospital Medical Center, 2002-2004.

View PubMed Publications

Lo B, Zhang K, Lu W, Zheng L, Zhang Q, Kanellopoulou C, Zhang Y, Liu Z, Fritz JM, Marsh R, Husami A, Kissell D, Nortman S, Chaturvedi V, Haines H, Young LR, Mo J, Filipovich AH, Bleesing JJ, Mustillo P, Stephens M, Rueda CM, Chougnet CA, Hoebe K, McElwee J, Hughes JD, Karakoc-Aydiner E, Matthews HF, Price S, Su HC, Rao VK, Lenardo MJ, Jordan MB. AUTOIMMUNE DISEASE. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy. Science. 2015;349:436-440.

Lindsley AW, Qian Y, Valencia CA, Shah K, Zhang K, Assa’ad A. Combined Immune Deficiency in a Patient with a Novel NFKB2 Mutation. J Clin Immunol. 2014 Nov;34(8):910-5.

Valencia CA, Indugula SR, Mathur A, Wei C, Brown J, Dell S, Cole I, Connor J, Zhang K. Misleading results from saliva samples of post bone marrow transplanted patients in exome analyses. Published Blood. 2014 Jul 24;124(4):660-1.

Zhang K, Chadrakasan S, Chapman H, Valencia CA, Husami A, Kissell D, Johnson JA, Filipovich AH. Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis. Blood. 2014 Aug 21;124(8):1331-4.

Qian Y, Johnson J, Connor J, Valencia CA, Barasa N, Schubert J, Husami A, Kissell D, Zhang G, Weirauch M, Filipovich A, Zhang K. The 253-kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3. Pediatric Blood Cancer. 2014;61:1034–1040.

Theru Arumugam S, Husami A, Kissell D, Zhang W, Keddache M, Black AP, Tinkle BT, Greinwald JH, Zhang K. Performance Evaluation of the Next-Generation Sequencing Approach for Molecular Diagnosis of Hereditary Hearing Loss. Otolaryngol Head Neck Surg. 2013 Jun;148(6):1007-16.

Zhang K, Jordan MB, Marsh RA, Johnson JA, Kissell D, Meller J, Villanueva J, Risma KA, Wei Q, Klein PS, et al. Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH. Blood. 2011;118:5794-5798

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;55:134-140.

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;58:2892-2896.

Zhang K, Johnson JA, Biroschak J, Villanueva J, Lee SM, Bleesing JJ, Risma KA, Wenstrup RJ, Filipovich AH. Familial haemophagocytic lymphohistiocytosis in patients who are heterozygous for the A91V perforin variation is often associated with other genetic defects. Int J Immunogenet. 2007;34:231-233.

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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