Division Highlights - Genetics & Metabolism
The Division of Genetics and Metabolism provides comprehensive services to help patients and families cope with a variety of genetic disorders.
We have provided these services statewide through over 30 years of partnership with the Division of Public Health and leadership of the Wisconsin Genetics System.
Research interests include the genetic basis of inherited disorders, molecular techniques for newborn screening, diagnosis of nonsyndromic intellectual disability, and the genetic causes of vertebral anomalies.
- Philip Giampietro, MD, PhD, joined the division as medical director of the Genetics Counseling Training Program. Now in its 35th year, the program also moved to the Department of Pediatrics in 2009.
- The genetics counseling clinical program, now in its 35th year, moved from the Department of Medical Genetics to the Department of Pediatrics, bringing eight counselors into the department.
- Gregory Rice, MD, genetics counselor Lindsay Zetzsche, MS, CGC, other Department of Pediatrics faculty, and a multidisciplinary team at the Waisman Center, established the Fragile X Syndrome Clinic.
- David Wargowski, MD, served on a newly formed joint American Academy of Pediatrics/Centers for Disease Control expert panel on Fetal Alcohol Spectrum Disorders.
- The Waisman Center Genetics Clinics received the UW Health Service Excellence Award for achieving the highest patient satisfaction score in the UW Health system for the first half of 2009.
Clinical Professor, Volunteer Staff
Asai-Coakwell M, French CR, Ye M, Garcha K, Bigot K, Perera AG, Staehling-Hampton K, Mema SC, Chanda B, Mushegian A, Bamforth S, Doschak MR, Li G, Dobbs MB, Giampietro PF, Brooks BP, Vijayalakshmi P, Sauvé Y, Abitbol M, Sundaresan P, van Heyningen V, Pourquié O, Underhill TM, Waskiewicz AJ, Lehmann OJ. Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes. Hum Mol Genet. 2009 Mar 15;18(6):1110-21. Epub 2009 Jan 6.
Asokan A, Conway JC, Phillips JL, Li C, Hegge J, Sinnott R, Yadav S, DiPrimio N, Nam HJ, Agbandje-McKenna M, McPhee S, Wolff J, Samulski RJ. Reengineering a receptor footprint of adeno-associated virus enables selective and systemic gene transfer to muscle. Nat Biotechnol. 2010 Jan;28(1):79-82. Epub 2009 Dec 27.
Baker MW, Grossman WJ, Laessig RH, Hoffman GL, Brokopp CD, Kurtycz DF, Cogley MF, Litsheim TJ, Katcher ML, Routes JM. Development of a routine newborn screening protocol for severe combined immunodeficiency. J Allergy Clin Immunol. 2009 Sep;124(3):522-7. Epub 2009 May 31.
Dimmock D, Trapane P, Feigenbaum A, Keegan CE, Cederbaum S, Gibson J, Gambello MJ, Vaux K, Ward P, Rice GM, Wolff JA, O'Brien WE, Fang P. Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia. Hum Genet. 2009 Aug;126(2):341.
Giampietro PF, Dunwoodie SL, Kusumi K, Pourquié O, Tassy O, Offiah AC, Cornier AS, Alman BA, Blank RD, Raggio CL, Glurich I, Turnpenny PD. Progress in the understanding of the genetic etiology of vertebral segmentation disorders in humans. Ann N Y Acad Sci. 2009 Jan;1151:38-67. Review.
Gopalakrishnan B, Wolff J. siRNA and DNA transfer to cultured cells. Methods Mol Biol. 2009;480:31-52. Review.
Kang L, Marty D, Pauli RM, Mendelsohn NJ, Prachand V, Waggoner D. Chondrodysplasia punctata associated with malabsorption from bariatric procedures. Surg Obes Relat Dis. 2010 Jan-Feb;6(1):99-101. Epub 2009 May 23.
Kaplan FS, Xu M, Seemann P, Connor JM, Glaser DL, Carroll L, Delai P, Fastnacht-Urban E, Forman SJ, Gillessen-Kaesbach G, Hoover-Fong J, K√∂ster B, Pauli RM, Reardon W, Zaidi SA, Zasloff M, Morhart R, Mundlos S, Groppe J, Shore EM. Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1. Hum Mutat. 2009 Mar;30(3):379-90.
Ludtke JJ, Sokoloff AV, Wong S, Zhang G, Strickland DK, Wolff JA. Peptide-mediated targeting of hepatocytes via low density lipoprotein receptor-related protein (LRP). Drug Deliv. 2009 Jul;16(5):268-73.
McPherson E, Turner L, Zador I, Reynolds K, Macgregor D, Giampietro PF. Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation. Am J Med Genet A. 2009 Feb 15;149A(4):567-72.
Raca G, Artzer A, Thorson L, Huber S, Modaff P, Laffin J, Pauli RM. Array-based comparative genomic hybridization (aCGH) in the genetic evaluation of stillbirth. Am J Med Genet A. 2009 Nov;149A(11):2437-43.
Raggio CL, Giampietro PF, Dobrin S, Zhao C, Dorshorst D, Ghebranious N, Weber JL, Blank RD. A novel locus for adolescent idiopathic scoliosis on chromosome 12p. J Orthop Res. 2009 Oct;27(10):1366-72.
Reddy UM, Goldenberg R, Silver R, Smith GC, Pauli RM, Wapner RJ, Gardosi J, Pinar H, Grafe M, Kupferminc M, Hulth√©n Varli I, Erwich JJ, Fretts RC, Willinger M. Stillbirth classification--developing an international consensus for research: executive summary of a National Institute of Child Health and Human Development workshop. Obstet Gynecol. 2009 Oct;114(4):901-14. Erratum in: Obstet Gynecol. 2010 Jan;115(1):191.
Routes JM, Grossman WJ, Verbsky J, Laessig RH, Hoffman GL, Brokopp CD, Baker MW. Statewide newborn screening for severe T-cell lymphopenia. JAMA. 2009 Dec 9;302(22):2465-70.
Trefz FK, Burton BK, Longo N, Casanova MM, Gruskin DJ, Dorenbaum A, Kakkis ED, Crombez EA, Grange DK, Harmatz P, Lipson MH, Milanowski A, Randolph LM, Vockley J, Whitley CB, Wolff JA, Bebchuk J, Christ-Schmidt H, Hennermann JB; Sapropterin Study Group. Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study. J Pediatr. 2009 May;154(5):700-7. Epub 2009 Mar 4.
Turnpenny PD, Young E, (International Consortium for Vertebral Anomalies and Scoliosis) ICVAS. Spondylocostal dysostosis: autosomal recessive. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.2009 Aug 25.
Tyler CT, Rice GM, Grady M, Raca G. Mild clinical presentation in a child with prenatally diagnosed 45,X/47,XX,+18 mosaicism. Am J Med Genet A. 2009 Nov;149A(11):2588-92.
van Calcar SC, MacLeod EL, Gleason ST, Etzel MR, Clayton MK, Wolff JA, Ney DM. Improved nutritional management of phenylketonuria by using a diet containing glycomacropeptide compared with amino acids. Am J Clin Nutr. 2009 Apr;89(4):1068-77. Epub 2009 Feb 25. Erratum in: Am J Clin Nutr. 2010 Apr;91(4):1072.
Wolff LJ, Wolff JA, Sebesty√©n MG. Effect of tissue-specific promoters and microRNA recognition elements on stability of transgene expression after hydrodynamic naked plasmid DNA delivery. Hum Gene Ther. 2009 Apr;20(4):374-88.
|Principal Investigator||Funding Agency||Title|
|Rice, Gregory||Wisconsin Dept of Health Services||Congenital Disorders Program|
|Rice, Gregory||Biomarin Pharmaceutical||PAL-001 Clinical Trial|
|Rice, Gregory||Biomarin Pharmaceutical||AN8-DAY Course of Phenoptin Treatment In Subjects with Phenylketonuria|
|Rice, Gregory||Biomarin Pharmaceutical||BMRN PKU-006 Clinical Trial|
|Wargowski, David; Wilton, Georgiana||DHHS, PHS, Centers For Disease Control||Great Lakes FASD Regional Training Center|
|Wolff, Jon||Wisconsin Dept of Health Services||Congenital Disorders Program|
|Wolff, Jon||Biomarin Pharmaceutical Inc||Sapropterin Expanded Access Program|
|Wolff, Jon||Mirus Corporation||Development of Vehicles To Deliver Sirna Therapeutics|