Division Highlights - Genetics & Metabolism

2007 - 2008 Highlights

Mei Baker, MD, Jennifer Laffin, PhD, and Gregory Rice, MD, join division

Mei Baker, MD, receives funding from the Children’s Hospital of Wisconsin and the Department of Health and Human Services for screening of severe combined immunodeficiency

Gregory Rice, MD, named medical director of the Wisconsin State Laboratory of Hygiene

Overview

The Division of Genetics and Metabolism is committed to excellence in clinical genetics care, education, and research.

Our team of physicians, genetic counselors, dietitians, and doctors-in-training provides comprehensive diagnostic, counseling, care coordination and referral services.

We help patients and families understand and cope with conditions such as achondroplasia, cystic fibrosis, Down syndrome, Ehlers-Danlos syndrome, Gaucher diseases, Marfan syndrome, osteogenesis imperfecta, phenylketonuria (PKU), inborn errors of metabolism, and Prader–Willi syndrome.

We also participate in clinical research on the genetic basis of inherited disorders. We are developing new molecular techniques for newborn screening, evaluating an approach for diagnosing individuals with nonsyndromic cognitive impairment, and investigating the underlying genetic causes of vertebral anomalies and idiopathic scoliosis.

Faculty

Interim Division Chief: David S. Wargowski, MD, Associate Professor Mei W. Baker, MD, Assistant Professor

David S. Wargowski, MD

 

Residency: University of Virginia Children's Medical Center

Fellowships: University Hospital, Vancouver, BC

Board certification: Pediatrics, Medical Genetics

Clinical interests: fetal alcohol syndrome, dysmorphology, and neurofibromatosis

View UW Health Profile

Mei W. Baker, MD

Fellowships: Biochemical Genetics, University of Wisconsin - Madison

Clinical interests: application of molecular technology and DNA-based MS/MS screening for genetic metabolic disorders in newborns

Philip F. Giampietro, MD, PhD, Professor Jennifer J. S. Laffin, PhD, Assistant Professor

Philip F. Giampietro, MD, PhD

Residency: State University of New York – Stony Brook University Hospital; Long Island Jewish Medical Center

Fellowships: Weill Medical College of Cornell University

Board certification: Pediatrics, Clinical Genetics

Clinical interests: dysmorphology, osteogenesis imperfect, congenital and idiopathic scoliosis and connective tissue disorders

View UW Health Profile

Jennifer J. S. Laffin, PhD

Fellowships: Clinical Cytogenetics, University of Wisconsin - Madison

Board certification: Clinical Molecular Genetics, Clinical Cytogenetics

Clinical interests: molecular origins of recurrent cytogenetic abnormalities in cancer along with genetic causes of mental retardation

Richard M. Pauli, MD, PhD, Professor Emeritus Gregory M. Rice, MD, Assistant Professor

Richard M. Pauli, MD, PhD

Residency: Children’s Orthopedic Hospital and Medical Center in Seattle

Fellowships: University of Washington Affiliated Hospitals

Board certification: Medical Genetics

Clinical interests: heritable bone dysplasias (dwarfing disorders)

View UW Health Profile

Gregory M. Rice, MD

Residency: University of Wisconsin Hospital and Clinics

Fellowships: University of Wisconsin – Madison/Waisman Center

Board certification: Pediatrics, Clinical Genetics

Clinical interests: inborn errors of metabolism, newborn screening, developmental delay, mental retardation and Fragile X

View UW Health Profile

Jon Wolff, MD, Adjunct Professor  

Jon A. Wolff, MD

     

Recent Publications

Philip F. Giampietro, MD, PhD

McCarty CA, Chapman-Stone D, Derfus T, Giampietro PF, Fost N; Marshfield Clinic PMRP Community Advisory Group. Community consultation and communication for a population-based DNA biobank: the Marshfield clinic personalized medicine research project. Am J Med Genet A. 2008 Dec 1. 146A(23):3026-33.PubMed PMID: 19006210. PMCID: PMC2588646

McPherson E, Zaleski C, Benishek K, McCarty CA, Giampietro PF, Reynolds K, Rasmussen K. Clinical genetics provider real-time workflow study. Genet Med. 2008 Sept. 10(9):699-706. PubMed PMID: 18978682


Jennifer J. S. Laffin, PhD

Laffin JJS, Blumer RJ, Morrison-Delap SJ, Rauch EA, Johnson EB, Diamond CA, Thompson KJ, Raca G, Montgomery KD, Kurtycz DF. Translocation t(7;9) (q34;q32) found in pediatric T-cell Acute Lymphoblastic Leukemia. Atlas Genet Oncol Haematol. September 2007.

Laffin JJS, Morrison-Delap SJ, Bottner WA, Johnson EB, Howard-Peebles P, Thompson KJ, Raca G, Montgomery KD, Kurtycz DF. inv(8)(p11.2q13) found in a patient with chronic myelomonocytic leukemia that progressed to acute myeloid leukemia. Atlas Genet Cytogenet Oncol Haematol. February 2007.


Gregory M. Rice, MD

Ney DM, Gleason ST, van Calcar SC, MacLeod EL, Nelson KL, Etzel MR, Rice GM, Wolff JA. Nutritional management of PKU with glycomacropeptide from cheese whey. J Inherited Metab Dis. 2009 Feb. 32(1):32-9. PubMed PMID: 18956251

Dimmock DP, 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. The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia. Am J Med Genet. 2008 Nov 15; 146A(22):2885-90. PubMed PMID: 18925679. PMCID: PMC2597641


David S. Wargowski, MD

Stein J, Zbuk K, Stettner A, Wargowski D, Eng C. Rare case of siblings with childhood follicular neoplasia and a PTEN promoter deletion. NSGC. 2007 Oct.

Grant Support

Mei W. Baker, MD

  • University of Massachusetts (06/01/2008-05/31/2010)
    ”Heritable Disorders”
    Role: Subcontract PI
  • Jeffrey Modell Foundation (01/01/2007-12/31/2009)
    ”SCID Project”
    The goals of this project are to investigate whether the measurement of T-cell receptor excision circles are an appropriate screening test for SCID in newborns and to determine the feasibility of integrating routine screening for SCID into Wisconsin’s existing newborn screening program.
    Role: Subcontract PI
  • Children’s Hospital of Wisconsin (01/01/2007-12/31/2009)
    ”SCID Project”
    The goals of this project are to investigate whether the measurement of T-cell receptor excision circles are an appropriate screening test for SCID in newborns and to determine the feasibility of integrating routine screening for SCID into Wisconsin’s existing newborn screening program.
    Role: Subcontract PI

Gregory M. Rice, MD

  • Biomarin Pharmaceutical Inc (08/13/2008-12/31/2009)
    “PAL-001”
  • Biomarin Pharmaceutical Inc (05/01/2005-09/14/2032)
    “BMRN PKU-006"
  • Biomarin Pharmaceutical Inc (05/01/2005-09/14/2032)
    “001: A Phase 2, MULTI”

David S. Wargowski, MD

  • Wisconsin Department of Health Services (7/1/2008-6/30/2009)
    “Congenital Disorders Program”
    Role: PI
  • Y1 Great Lakes FASD Regional DHHS, PHS, Centers of Disease Control and Prevention (10/1/2008-9/30/2009)
    Role: PI