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.

2012 Highlights

  • Mei Baker, MD, and Philip Farrell, MD, PhD, received a 2-year, $415,273 research award from the Legacy of Angels Foundation for their project, “Improving IRT/DNA newborn screening for cystic fibrosis to reduce false positives by a new molecular strategy.”
  • Philip Giampietro, MD, PhD, received the “Heart of the Matter” award from the National Marfan Foundation for “compassionate patient care and research.”
  • Richard Pauli, MD, PhD, was among the first recipients of the UW Health Patient Experience Physician Champion Award, which recognizes physicians who have achieved exemplary communication skills in the 2011 Avatar patient satisfaction survey.
  • Gregory Rice, MD, received the UW School of Medicine and Public Health’s (SMPH) Dean’s Teaching Award.

Faculty


David S. Wargowski, MD

Professor (CHS) and
Division Chief

Mei W. Baker, MD

Assistant 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

Professor

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

Garcia Segarra N, Mittaz L, Campos-Xavier AB, Bartels CF, Tuysuz B, Alanay Y, Cimaz R, Cormier-Daire V, Di Rocco M, Duba HC, Elcioglu NH, Forzano F, Hospach T, Kilic E, Kuemmerle-Deschner JB, Mortier G, Mrusek S, Nampoothiri S, Obersztyn E, Pauli RM, Selicorni A, Tenconi R, Unger S, Utine GE, Wright M, Zabel B, Warman ML, Superti-Furga A, Bonafé L. The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals. Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):217-29. PMID: 22791401.

Huismann DJ, Sheldon JP, Yashar BM, Amburgey K, Dowling JJ, Petty EM. Quality of life and autonomy in emerging adults with early-onset neuromuscular disorders. J Genet Couns. 2012 Oct;21(5):713-25. PMID: 22367485.

Laffin JJ, Raca G, Jackson CA, Strand EA, Jakielski KJ, Shriberg LD. Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization. Genet Med. 2012 Nov;14(11):928-36. PMID: 22766611.

Raca G, Baas BS, Kirmani S, Laffin JJ, Jackson C, Strand EA, Jakielski KJ, and Shriberg, LD. Childhood Apraxia of Speech (CAS) in two patients with 16p11.2 microdeletion syndrome. Eur J Hum Genet. 2012 Aug 22. PMID: 22909774.

Seltzer MM, Baker MW, Hong J, Maenner M, Greenberg J, Mandel D. Prevalence of CGG expansions of the FMR1 gene in a US population-based sample. Am J Med Genet B Neuropsychiatr Genet. 2012 Jul;159B(5):589-97. PMID: 22619118.

Solomon BD, Bear KA, Kimonis V, de Klein A, Scott DA, Shaw-Smith C, Tibboel D, Reutter H, Giampietro PF. Clinical geneticists' views of VACTERL/VATER association. Am J Med Genet A. 2012 Dec;158A(12):3087-100. PMID: 23165726.

Stanbery L, Petty EM. Steps solidifying a role for SEPT9 in breast cancer suggest that greater strides are needed. Breast Cancer Res. 2012 Jan 9;14(1):101. PMID: 22236777.

Tassone F, Long KP, Tong TH, Lo J, Gane LW, Berry-Kravis E, Nguyen D, Mu LY, Laffin J, Bailey DB Jr, Hagerman RJ. FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States. Genome Med. 2012 Dec  21;4(12):100. [Epub ahead of print] PMID: 23259642.

van Calcar SC, Ney DM. Food products made with glycomacropeptide, a low-phenyalanine whey protein, provides a new alternative to amino acid-based medical foods for nutrition management of phenylketonuria (Review).  J Acad Nutr Diet 2012; 112:1201-1210. PMID: 22818728.

Grant Support

Our faculty were principal investigators on the following grants during calendar year 2012.

Principal Investigator Funding Agency Title
Baker, Mei Wang University of Massachusetts Heritable Disorders
Baker, Mei Wang University of Texas Health Science Center National Newborn Screening and Genetics Resource Center
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
Laffin, Jennifer RTI International FX Newborn Screening Laboratory Testing
Rice, Gregory Biomarin Pharmaceutical, Inc. PKU Registry
Rice, Gregory Biomarin Pharmaceutical, Inc. PEG PAL-002
Rice, Gregory Biomarin Pharmaceutical, Inc. PEG PAL-003
Rice, Gregory DHHS, PHS, Food and Drug Administration Phase 2 Study of Glycomacropeptide vs. Amino Acid Diet for the Management of PKU
Rice, Gregory Wisconsin Dept of Health Services Congenital Disorders Program: Newborn Screening Follow-up
Rice, Gregory Biomarin Pharmaceutical, Inc. PKU016
Rice, Gregory Wisconsin Dept of Health Services Dietary Products Processing/NB
Van Calcar, Sandra National PKU Alliance National Questionnaire for Adults With PKU
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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