Hereditary Cancer Program

Clinical

Lysosomal storage diseases; inborn errors of metabolism

Research

Clinical trials; lysosomal storage diseases; biomarkers in gaucher diseases

MD: University of Arkansas for Medical Sciences, Little Rock, AR, 2003.

Residency: Pediatrics and Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 2008.

Fellowship: Medical Biochemical Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 2009.

Certification: Pediatrics, 2007; Clinical Genetics, 2009

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.

Burrow, TA,Saal, HM, deAlarcon, A, Martin, L, Cotton, RT, Hopkin, RJ: A Characterization of Congenital Anomalies in Individuals with Choanal Atresia. Arch Otolaryngol Head Neck Surg. 2009;135(6):543-547.

Burrow TA, Hopkin RJ, Bove KE, Miles L, Wong BL, Choudhary A, Bali D, Li SC, Chen YT: Non-Lethal Congenital Hypotonia Due to Glycogen Storage Disease Type IV. Am J Med Genet A, 2007:140(8):878-82.

Burrow TA, Cohen M, Deutsch G, Bokulic R, Choudhary A, Falcone R, Grabowski GA: Gaucher Disease: Progressive Mesenteric and Mediastinal Lymphadenopathy Despite Enzyme Therapy. J Peds, 2007:150:202-6.

Burrow TA, Bove KE, Grabowski, GA. The Lysosomal Storage Diseases. In: Suchy FJ, Sokol RJ, and Balistreri WF eds, Liver Disease in Children, 3rd ed., Cambridge University Press, New York; 2007:714-735.

Burrow TA, Hopkin, RJ, Leslie, ND, Tinkle, BT, and Grabowski, GA: Enzyme Reconstitution/Replacement Therapy for Lysosomal Storage Diseases. Curr Opin Pediatr, 2007:19:628-635.

Robert J. Hopkin, MD Co-Director, 22Q-VCFS Center 513-636-4760 rob.hopkin@cchmc.org

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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

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

Biography

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.

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.

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.

Nancy Doan Leslie, MD Interim Co-Director, Division of Human Genetics 513-636-2438 nancy.leslie@cchmc.org

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Nancy Doan Leslie, MD

Interim Co-Director, Division of Human Genetics

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

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

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.

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.

Derek E. Neilson, MD 513-636-4760

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Derek E. Neilson, MD

Academic Affiliations

Assistant Professor, UC Department of Pediatrics

Phone 513-636-4760

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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.

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.

Howard M. Saal, MD, FACMG Director, Clinical Genetics 513-636-2438 howard.saal@cchmc.org

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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

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

Research

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.

MD: Wayne State University, Detroit, MI, 1975-1979.

Internship: University of Connecticut Integrated Program in Pediatrics, Farmington, CT, 1979-1980.

Residency: University of Connecticut Integrated Program in Pediatrics, Farmington, CT, 1980-1982.

Fellowship: University of Washington School of Medicine Division of Medical Genetics, Seattle, WA, 1982-1984.

Certification: American Board of Medical Genetics in Cytogenetics and Clinical Genetics, 1984; American Board of Pediatrics, 1985.

Zarate YA, Putnam PE, Saal HM. Intestinal malrotation in a patient with Pfeiffer syndrome type 2. Cleft Palate Craniofac J. 2010 Nov;47(6):638-41.

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.

Elizabeth K. Schorry, MD Member, Division of Human Genetics 513-636-0121

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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

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.

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 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.

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.