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 provided these services statewide through over 30 years of partnership with the Division of Public Health and leadership of the Wisconsin State Genetics System.
Research interests include the genetic basis of inherited disorders, molecular techniques for newborn screening, diagnosis of nonsyndromic intellectual disability, fetal alcohol syndrome, and the genetic causes of vertebral anomalies.
- Mei Baker, MD, was recognized nationally and internationally for developing the newborn screening application of the TREC assay for detecting primary immunodeficiencies. This assay led to the first successful presymptomatic identification of a newborn with severe combined immunodeficiency in Wisconsin. Dr. Baker has consulted with newborn screening programs in 10 states and five countries, and delivered presentations on the topic in the US, Japan, and China.
- Philip Giampietro, MD, PhD, received a $315,000 NIH grant for his project, “Analyzing Environmental Exposures and Candidate Genes in Congenital Malformations.” He also received a two-year, $100,000 grant from the Scoliosis Research Society to study genetic contributors to idiopathic scoliosis.
- Jessica Scott-Schwoerer, MD, joined the division after completing a residency in medical genetics. She will complete her laboratory fellowship training in biochemical genetics in 2011.
- Sandra van Calcar, PhD, RD, joined the division as an assistant professor performing clinical research on the lifelong management of individuals with phenylketonuria (PKU). She is nationally known for her clinical expertise in nutritional management of genetic metabolic disorders.
- David Wargowski, MD, trained over 200 clinicians, educators, and behavioral specialists in four states on the effects of prenatal alcohol exposure and diagnostic approaches to affected individuals. The training was offered under the auspices of the CDC-funded Great Lakes FASD Regional Training Center, in partnership with the UW Department of Family Medicine.
Associate Professor and
Clinical Professor, Volunteer Staff
Baker MW, Laessig RH, Katcher ML, Routes JM, Grossman WJ, Verbsky J, Kurtycz DF, Brokopp CD. Implementing routine testing for severe combined immunodeficiency within Wisconsin's newborn screening program. Public Health Rep. 2010 May-Jun;125 Suppl 2:88-95.
Chen X, Raca G, Laffin J, Babaian KN, Williams DH. Chromosomal abnormalities in two cases of testicular failure. J Androl. 2010 Oct 21.
Thorson L, Bryke C, Rice G, Artzer A, Schilz C, Israel J, Huber S, Laffin J, Raca G. Clinical and molecular characterization of overlapping interstitial Xp21-p22 duplications in two unrelated individuals. Am J Med Genet A. 2010 Apr;152A(4):904-15.
Xu X, Chen X, Rauch EA, Johnson EB, Thompson KJ, Laffin JJS, Raca G, Kurtycz DF. Unbalanced rearrangement der(9;18)(p10;q10) in a patient with polycythemia vera. Atlas Genet Cytogenet Oncol Haematol. April 2010.
Dwyer E, Hyland J, Modaff P, Pauli RM. Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. Am J Med Genet A. 2010 Dec;152A(12):3043-50.
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.
Pauli RM: Achondroplasia. In: Cassidy SB, Allanson JE eds. Management of Genetic Syndromes. 3rd edition. Hoboken, NJ: Wiley-Blackwell; 2010, 17-38.
Pauli RM. Stillbirth: fetal disorders. Clin Obstet Gynecol. 2010 Sep;53(3):646-55.
Johnson MD, Gentry LR, Rice GM, Mount DL. A case of congenitally absent left internal carotid artery: vascular malformations in 22q11.2 deletion syndrome. Cleft Palate Craniofac J. 2010 May;47(3):314-7.
MacLeod EL, Clayton MK, van Calcar SC, Ney DM. Breakfast with glycomacropeptide compared with amino acids suppresses plasma ghrelin levels in individuals with phenylketonuria. Mol Genet Metab. 2010 Aug;100(4):303-8.
Reineking B, van Calcar S. Inborn Errors of Metabolism, In: Corkins MR, ed. A.S.P.E.N. Pediatric Nutrition Support Core Curriculum. Silver Spring, MD: American Society of Parenteral and Enteral Nutrition. 2010; 232-246.
Hegge JO, Wooddell CI, Zhang G, Hagstrom JE, Braun S, Huss T, Sebestyén MG, Emborg ME, Wolff JA. Evaluation of hydrodynamic limb vein injections in nonhuman primates. Hum Gene Ther. 2010 Jul;21(7):829-42.
Mudd SR, Trubetskoy VS, Blokhin AV, Weichert JP, Wolff JA. Hybrid PET/CT for noninvasive pharmacokinetic evaluation of dynamic PolyConjugates, a synthetic siRNA delivery system. Bioconjug Chem. 2010 Jul 21;21(7):1183-9.
Wooddell CI, Subbotin VM, Sebesty X00e9 N MG, Griffin JB, Zhang G, Schleef M, Braun S, Huss T, Wolff JA. Muscle damage following delivery of naked plasmid DNA into skeletal muscles is batch-dependent. Hum Gene Ther. 2010 Oct 13.
|Principal Investigator||Funding Agency||Title|
|Baker, Mei||Medical College of Wisconsin||Development of Population-Based Screening for DiGeorge Syndrome Type 1|
|Baker, Mei||University of Massachusetts||Heritable Disorders|
|Baker, Mei||University of Texas Health Science Center||National Newborn Screening and Genetics Resource Center|
|Giampietro, Philip||Orthopaedic Research and Education Foundation||Identification of a Locus for Adolescent Idiopathic Scoliosis on Chromosome 12p|
|Giampietro, Philip||Scoliosis Research Society||Identification of a Locus for Idiopathic Scoliosis on Chromosome 12p|
|Rice, Gregory||Biomarin Pharmaceutical, Inc.||PAL-001 Clinical Trial|
|Rice, Gregory||Biomarin Pharmaceutical, Inc.||BMRN PKU-001: A Phase 2, Multicenter, Open-Label Study to Evaluate the Response to and Safety of an 8-Day Course of Phenoptin Treatment in Subjects with Phenylketonuria Who Have Elevated Phenylalanine Levels|
|Rice, Gregory||Biomarin Pharmaceutical, Inc.||PKU Registry|
|Rice, Gregory||Wisconsin Department of Health Services||Congenital Disorders Program|
|Wargowski, David||Wisconsin Department of Health Services||Congenital Disorders Program|
|Wargowski, David||Children's Hospital of Wisconsin||Clinical Genetics Unit|
|Wargowski, David||DHHS, PHS, Centers For Disease Control & Prevention||Great Lakes Fetal Alcohol Spectrum Disorders Regional Training Center|