Division Highlights - Genetics & Metabolism

The Division of Genetics and Metabolism provides comprehensive services to help patients and families cope medically and emotionally with a wide range of genetic disorders.

We have maintained a commitment to making these services available statewide through over 30 years of partnership with the Waisman Center on the UW campus and the State Division of Public Health, and through leadership of the Wisconsin State Genetics System.

Research interests include the genetic bases of inherited disorders and congenital anomalies, molecular techniques for newborn screening, diagnosis of nonsyndromic intellectual disability, fetal alcohol syndrome, and the genetic causes of vertebral anomalies.

2011 Highlights

  • Jennifer Laffin, PhD, was appointed director of the Cytogenetics Laboratory at the State Laboratory of Hygiene, and is spearheading the development of a collaborative molecular diagnostics laboratory on the UW campus.
  • Elizabeth Petty, MD, joined the division and the School of Medicine and Public Health as a professor and senior associate dean for academic affairs.
  • Gregory Rice, MD, was one of four recipients of the Dean’s Distinguished Teaching Awards.
  • Jessica Scott-Schwoerer, MD, completed her fellowship in biochemical genetics, became certified by the American Board of Medical Genetics, and was appointed as an assistant professor (CHS).
  • Sandra Van Calcar, PhD, RD, was elected president of Genetic Metabolic Dietitians International, an organization dedicated to advancing knowledge of the dietary treatment of inherited metabolic disorders.
  • David Wargowski, MD, is serving on a joint AAP/CDC panel to develop a primary care toolkit on the diagnosis and management of children with fetal alcohol spectrum disorders.

Faculty


David S. Wargowski, MD

Associate Professor and
Division Chief

Mei W. Baker, MD

Assistant Professor

Philip F. Giampietro, MD, PhD

Professor

Jennifer J. S. Laffin, PhD

Assistant Professor

Richard M. Pauli, MD, PhD

Professor Emeritus

Elizabeth M. Petty, MD

Professor

Gregory M. Rice, MD

Assistant Professor

Jessica A. Scott-Schwoerer, MD

Assistant Professor

Sandy C. Van Calcar, PhD, RD

Assistant Professor

Jon A. Wolff, MD

Clinical Professor, Volunteer Staff

   

Recent Publications

Accetta DJ, Brokopp CD, Baker MW, Verbsky J, Routes JM. Cause of death in neonates with inconclusive or abnormal T-cell receptor excision circle assays on newborn screening. J Clin Immunol. 2011 Dec;31(6):962-7. PMID: 21956495.

Baker MW, Groose M, Hoffman G, Rock M, Levy H, Farrell PM. Optimal DNA tier for the IRT/DNA algorithm determined by CFTR mutation results over 14 years of newborn screening. J Cyst Fibros. 2011 Jul;10(4):278-81. PMID: 21388895.

Keller JA, Petty EM. CHFR binds to and regulates MAD2 in the spindle checkpoint through its cysteine-rich domain. Biochem Biophys Res Commun. 2011 Jun 10;409(3):389-93. PMID: 21575600.

Kiedrowski LA, Raca G, Laffin JJ, Nisler BS, Leonhard K, McIntire E, Mongomery KD. DNA methylation assay for X-chromosome inactivation in female human iPS cells. Stem Cell Rev. 2011 Nov;7(4):969-75. PMID: 21373884.

Knutsen AP, Baker MW, Markert ML. Interpreting low T-cell receptor excision circles in newborns with DiGeorge anomaly: importance of assessing naive T-cell markers. J Allergy Clin Immunol. 2011 Dec;128(6):1375-6. PMID: 22018899.

Marvin ML, Mazzoni SM, Herron CM, Edwards S, Gruber SB, Petty EM. AXIN2-associated autosomal dominant ectodermal dysplasia and neoplastic syndrome. Am J Med Genet A. 2011 Apr;155A(4):898-902. PMID: 21416598.

McPherson E, Thomas GD, Manlick C, Zaleski CA, Reynolds KK, Rasmussen K, Giampietro PF, Wiley C, Mascola M. Extreme values of maternal serum analytes in second trimester screening: looking beyond trisomy and NTD's. J Genet Couns. 2011Aug;20(4):396-403. PMID: 21505920.

Peterson EA, Stanbery L, Li C, Kocak H, Makarova O, Petty EM. SEPT9_i1 and genomic instability: mechanistic insights and relevance to tumorigenesis. Genes Chromosomes Cancer. 2011 Nov;50(11):940-9. PMID: 21910160.

Phillips JL, Hegge J, Wolff JA, Samulski RJ, Asokan A. Systemic gene transfer to skeletal muscle using reengineered AAV vectors. Methods Mol Biol. 2011;709:141-51. PMID: 21194026.

Pichavant C, Aartsma-Rus A, Clemens PR, Davies KE, Dickson G, Takeda S, Wilton SD, Wolff JA, Wooddell CI, Xiao X, Tremblay JP. Current status of pharmaceutical and genetic therapeutic approaches to treat DMD. Mol Ther. 2011 May;19(5):830-40. PMID: 21468001.

Potti TA, Petty EM, Lesperance MM. A comprehensive review of reported heritable noggin-associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term: NOG-related-symphalangism spectrum disorder (NOG-SSD). Hum Mutat. 2011 Aug;32(8):877-86. PMID: 21538686.

Rice GM, Raca G, Jakielski KJ, Laffin JJ, Iyama-Kurtycz CM, Hartley SL, Sprague RE, Heintzelman AT, Shriberg LD. Phenotype of FOXP2 haploinsufficiency in a mother and son. Am J Med Genet A. 2011 Nov 21. PMID: 22106036.

Simpson MA, Irving MD, Asilmaz E, Gray MJ, Dafou D, Elmslie FV, Mansour S, Holder SE, Brain CE, Burton BK, Kim KH, Pauli RM, Aftimos S, Stewart H, Kim CA, Holder-Espinasse M, Robertson SP, Drake WM, Trembath RC. Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. Nat Genet. 2011 Mar 6;43(4):303-5. PMID: 21378985.

Verbsky JW, Baker MW, Grossman WJ, Hintermeyer M, Dasu T, Bonacci B, Reddy S, Margolis D, Casper J, Gries M, Desantes K, Hoffman GL, Brokopp CD, Seroogy CM, Routes JM. Newborn screening for severe combined immunodeficiency: the Wisconsin experience (2008-2011). J Clin Immunol. 2012 Feb;32(1):82-8. Epub 2011 Nov 10. PMID: 22068910.

Wooddell CI, Hegge JO, Zhang G, Sebestyén MG, Noble M, Griffin JB, Pfannes LV, Herweijer H, Hagstrom JE, Braun S, Huss T, Wolff JA. Dose response in rodents and nonhuman primates after hydrodynamic limb vein delivery of naked plasmid DNA. Hum Gene Ther. 2011 Jul;22(7):889-903. PMID: 21338336.

Grant Support


Principal Investigator Funding Agency Title
Baker, Mei Health Resources Services Administration Development of Newborn Screening Assay for Screening Congential CMV Infection
Baker, Mei University of Massachusetts Heritable Disorders
Giampietro, Philip Orthopaedic Research and Education Foundation Identification of a Locus for Idiopathic Scoliosis on Chromosome 12p
Giampietro, Philip Scoliosis Research Society Identification of a Locus for Idiopathic Scoliosis on Chromosome 12p
Lafflin, Jennifer RTI International (DHHS-CDC) Population Screening for Fragile X
Rice, Gregory Biomarin Pharmaceutical Inc PEG PAL-002
Rice, Gregory Biomarin Pharmaceutical Inc PEG PAL-003
Rice, Gregory Biomarin Pharmaceutical Inc PKU Registry
Rice, Gregory Biomarin Pharmaceutical Inc PKU-016
Rice, Gregory DHHS, PHS, Food and Drug Administration FDA Clinical Trial PKU
Rice, Gregory Wisconsin Dept of Health Services Congenital Disorders Program
Van Calcar, Sandra Michigan Public Health Institute (NIH) Inborn Errors of Metabolism Collaborative:  Defining the Natural History of Inborn Errors of Metabolism
Van Calcar, Sandra Parents of Children with Galactosemia Nutritional Recommendations for Patients with Galactosemia
Wargowski, David Wisconsin Dept of Health Services Congenital Disorders 2010-2011
Wargowski, David Children's Hospital of Wisconsin Clinical Genetics Unit, CY11
Wargowski, David DHHS, PHS, Centers For Disease Control & Prevention Great Lakes FASD

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