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 and bone dysplasias.

2013 Highlights

  • Philip Giampietro, MD, PhD, was invited to participate as faculty at the 2013 Scoliosis Research Society Annual Meeting and Course in Lyon, France. His presentation was entitled “Identification of a Locus for Adolescent Idiopathic Scoliosis on Chromosome 12p.”
  • Jennifer Laffin, PhD, led the development of a new molecular genetics fellowship program, which was accredited by the American Board of Medical Genetics.
  • Richard Pauli, MD, PhD, was in the top five percent of UW Health providers for 2012 Avatar patient satisfaction survey results. He also received an award for "a lifetime of contributions to the genetics community" at the Upper Midwest Clinical Genetics meeting in Minneapolis, and his work with people with bone dysplasias was highlighted in an article in the Wisconsin State Journal.
  • Elizabeth Petty, MD, was selected as an American Association of Medical Colleges Council of Deans Fellow, and also was named Director of Research, Education and Career Development for the UW Institute for Clinical and Translational Research.
  • David Wargowski, MD, appeared on Indiana Public Radio's Sound Medicine to discuss the 10th anniversary of the Human Genome Project. and was interviewed by the Milwaukee Journal Sentinel for an article describing an NIH study of whole genome sequencing of newborns.


David S. Wargowski, MD

Professor (CHS) and
Division Chief

Mei W. Baker, MD

Associate Professor (CHS)

Philip F. Giampietro, MD, PhD

Professor (CHS)

Jennifer J. S. Laffin, PhD

Assistant Professor (CHS)

Richard M. Pauli, MD, PhD

Professor Emeritus

Elizabeth M. Petty, MD


Catherine A. Reiser, MS, CGC

Associate Professor (CHS)

Gregory M. Rice, MD

Assistant Professor (CHS)

Jessica A. Scott-Schwoerer, MD

Assistant Professor (CHS)

Sandy C. Van Calcar, PhD, RD

Assistant Professor

Jon A. Wolff, MD

Clinical Professor, Volunteer Staff


Recent Publications

Berry SA, Brown C, Grant M, Greene CL, Jurecki E, Koch J, Moseley K, Suter R, van Calcar SC, Wiles J, Cederbaum S. Newborn screening 50 years later: access issues faced by adults with PKU. Genet Med. 2013 Aug;15(8):591-9. Epub 2013 Mar 7. PMID: 23470838.

Borovik L, Modaff P, Waterham HR, Krentz AD, Pauli RM. Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR. Am J Med Genet A. 2013 Aug; 161A(8):2066-73. Epub 2013 Jul 3. PMID: 23824842.

Choudhary A, Lera RF, Martowicz ML, Oxendine K, Laffin JJ, Weaver BA, Burkard ME. Interphase cytofission maintains genomic integrity of human cells after failed cytokinesis. Proc Natl Acad Sci U S A. 2013 Aug 6;110(32):13026-31. Epub 2013 Jul 22. PMID: 23878225.

Dessoffy KE, Modaff P, Pauli RM. Airway malacia in children with achondroplasia. Am J Med Genet A. 2014 Feb;164(2):407-14. Epub 2013 Dec 5. PMID: 24311312.

Giampietro PF, Baker MW, Basehore MJ, Jones JR, Seroogy CM. Novel mutation in TP63 associated with ectrodactyly ectodermal dysplasia and clefting syndrome and T cell lymphopenia. Am J Med Genet A. 2013 Jun;161A(6):1432-5. PMID: 23613309.

Giampietro PF, Raggio CL, Blank RD, McCarty C, Broeckel U, Pickart MA. Clinical, genetic and environmental factors associated with congenital vertebral malformations. Mol Syndromol. 2013 Feb;4(1-2):94-105. PMID: 23653580.

Hesemann J, Lauer E, Ziska S, Noonan K, Nemeth B, Scott-Schwoerer J, McCarty C, Rasmussen K, Goldberg JM, Sund S, Eickhoff J, Raggio CL, Giampietro PF. Analysis of maternal risk factors associated with congenital vertebral malformations. Spine (Phila Pa 1976). 2013 Mar 1;38(5):E293-8. PMID: 23446706.

Maenner MJ, Baker MW, Broman KW, Tian J, Barnes JK, Atkins A, McPherson E, Hong J, Brilliant MH, Mailick MR. FMR1 CGG expansions: prevalence and sex ratios. Am J Med Genet B Neuropsychiatr Genet. 2013 Jul;162B(5):466-73. Epub 2013 Jun 5. PMID: 23740716.

Murray B, Yashar BM, Uhlmann WR, Clauw DJ, Petty EM. Ehlers-Danlos syndrome, hypermobility type: A characterization of the patients' lived experience. Am J Med Genet A. 2013 Dec;161A(12):2981-8. Epub 2013 Nov 6. PMID: 24254846.

Oberley MJ, Rajguru SA, Zhang C, Kim K, Shaw GR, Grindle KM, Kahl BS, Kanugh C, Laffin J, Yang DT. Immunohistochemical evaluation of MYC expression in mantle cell lymphoma. Histopathology. 2013 Oct;63(4):499-508. Epub 2013 Aug 8. PMID: 23926923.

Petty E, Golden RN. Spencer Foreman, transformation, and community engagement. WMJ. 2013 Dec;112(6):266-7. PMID: 24511868.

Solomon BD, Baker LA, Bear KA, Cunningham BK, Giampietro PF, Hadigan C, Hadley DW, Harrison S, Levitt MA, Niforatos N, Paul SM, Raggio C, Reutter H, Warren-Mora N. An approach to the identification of anomalies and etiologies in neonates with identified or suspected VACTERL (vertebral defects, anal atresia, tracheo-esophageal fistula with esophageal atresia, cardiac anomalies, renal anomalies, and limb anomalies) association. J Pediatr. 2013 Dec S0022-3476(13)01382-6. PMID: 24332453.

Toriello HV, Erick M, Alessandri JL, Bailey D, Brunetti-Pierri N, Cox H, Fryer A, Marty D, McCurdy C, Mulliken JB, Murphy H, Omlor J, Pauli RM, Ranells JD, Sanchez-Valle A, Tobiasz A, Van Maldergem L, Lin AE. Maternal vitamin K deficient embryopathy: association with hyperemesis gravidarum and Crohn disease. Am J Med Genet A. 2013 Mar;161A(3):417-29. Epub 2013 Feb 12. PMID: 23404932.

Van Calcar SC, Baker MW, Williams P, Jones SA, Xiong B, Thao MC, Lee S, Yang MK, Rice GM, Rhead W, Vockley J, Hoffman G, Durkin MS. Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin. Mol Genet Metab. 2013 Sep-Oct;110(1-2):111-5. Epub 2013 Apr 15. PMID: 23712021.

Werts RL, Van Calcar SC, Wargowski DS, Smith SM. Inappropriate feeding behaviors and dietary intakes in children with fetal alcohol spectrum disorder or probable prenatal alcohol exposure. Alcohol Clin Exp Res. 2013 Oct 24. [Epub ahead of print] PMID: 24164456.

Worthey EA, Raca G, Laffin JJ, Wilk BM, Harris JM, Jakielski KJ, Dimmock DP, Strand EA, Shriberg LD. Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech. J Neurodev Disord. 2013 Oct 2;5(1):29. PMID: 24083349.

Xu X, Johnson EB, Leverton L, Arthur A, Watson Q, Chang FL, Raca G, Laffin JJ. The advantage of using SNP array in clinical testing for hematological malignancies--a comparative study of three genetic testing methods. Cancer Genet. 2013 Sep-Oct;206(9-10):317-26. Epub 2013 Oct 24. PMID: 24269304.

Grant Support

Our faculty were principal investigators on the following grants during calendar year 2013.

Principal Investigator Funding Agency Title
Baker, Mei Wang Association of University Centers on Disability Prevalence of the Fragile X Premutation
Baker, Mei Wang Legacy of Angels Improving IRT/DNA Newborn Screening for Cystic Fibrosis to Reduce False Positives by a New Molecular Strategy
Giampietro, Philip Scoliosis Research Society Identification of a Locus for Idiopathic Scoliosis on Chromosome 12p
Rice, Gregory Biomarin Pharmaceutical, Inc. PKU016
Rice, Gregory Wisconsin Department of Health Services Congenital Disorders
Rice, Gregory Wisconsin Department of Health Services Special Dietary Treatment Products Processing/NBS - Supplement to Congenital Disorders
Rice, Gregory Wisconsin Department of Health Services Congenital Disorders Biochemical Genetics
Van Calcar, Sandra National PKU Alliance Diet for Life
Van Calcar, Sandra Galactosemia Foundation Nutrition Management of Classical Galactosemia
Van Calcar, Sandra Michigan Public Health Institute Inborn Errors of Metabolism Collaborative: Defining the Natural History of Inborn Errors of Metabolism
Wargowski, David Wisconsin Dept of Health Services Congenital Disorders
Wargowski, David Wisconsin Dept of Health Services Clinical Genetics Unit

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