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 spectrum disorders, and the genetic causes of vertebral anomalies and bone dysplasias.
- The American Board of Medical Genetics and Genomics (ABMGG) has granted accreditation approval for the Division of Genetics & Metabolism's new Laboratory Genetics and Genomics (LGG) fellowship. Under the direction of Jennifer Laffin, PhD, FACMG, the LGG fellowship will combine and replace the division’s existing clinical cytogenetics and molecular genetics fellowships. The first LGG fellow will begin training in July 2017.
- Mei Baker, MD, was invited to serve a four-year term on the Health Resources and Services Administration’s new Advisory Committee on Heritable Disorders in Newborns and Children. The committee provides advice, recommendations, and technical information about aspects of heritable disorders and newborn and childhood screening to the Secretary of Health and Human Services.
- Principal investigator Elizabeth Petty, MD, along with co-investigator Aaron Carrel, MD, received a two-year, $150,000 grant from the Wisconsin Partnership Program Education and Research Committee for the project, “Engaging Clinicians in Online Social Learning to Close Knowledge Gaps in Community Health: Pilot Focus on Obesity and Mental Health Care.”
Professor (CHS) and
Associate Professor (CHS)
Assistant Professor (CHS)
Clinical Associate Professor
Associate Professor (CHS)
Associate Professor (CHS)
Assistant Professor (CHS)
Clinical Professor, Volunteer Staff
Baker MW, Atkins AE, Cordovado SK, Hendrix M, Earley MC, Farrell PM. Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study. Genet Med. 2016 Mar;18(3):231-8. doi: 10.1038/gim.2014.209. Epub 2015 Feb 12. PubMed PMID: 25674778; PubMed Central PMCID: PMC4802962. **
Bellur S, Jain M, Cuthbertson D, Krakow D, Shapiro JR, Steiner RD, Smith PA, Bober MB, Hart T, Krischer J, Mullins M, Byers PH, Pepin M, Durigova M, Glorieux FH, Rauch F, Sutton VR, Lee B; Members of the BBD Consortium, Nagamani SC. Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta. Genet Med. 2016 Jun;18(6):570-6. doi: 10.1038/gim.2015.131. Epub 2015 Oct 1. PubMed PMID: 26426884; PubMed Central PMCID: PMC4818203. **
Bleyle L, Huidekoper HH, Vaz FM, Singh R, Steiner RD, DeBarber AE. Update on newborn dried bloodspot testing for cerebrotendinous xanthomatosis: An available high-throughput liquid-chromatography tandem mass spectrometry method. Mol Genet Metab Rep. 2016 Mar 12;7:11-5. doi: 10.1016/j.ymgmr.2016.02.002. eCollection 2016 Jun. PubMed PMID: 27331003; PubMed Central PMCID: PMC4908045.
Choudhary A, Zachek B, Lera RF, Zasadil LM, Lasek A, Denu RA, Kim H, Kanugh C, Laffin JJ, Harter JM, Wisinski KB, Saha S, Weaver BA, Burkard ME. Identification of selective lead compounds for treatment of high-ploidy breast cancer. Mol Cancer Ther. 2016 Jan;15(1):48-59. doi: 10.1158/1535-7163.MCT-15-0527. Epub 2015 Nov 19. PubMed PMID: 26586723; PubMed Central PMCID: PMC4707107.
Denu RA, Zasadil LM, Kanugh C, Laffin J, Weaver BA, Burkard ME. Centrosome amplification induces high grade features and is prognostic of worse outcomes in breast cancer. BMC Cancer. 2016 Jan 29;16:47. doi: 10.1186/s12885-016-2083-x. PubMed PMID: 26832928; PubMed Central PMCID: PMC4734858.
Doyle DL, Awwad RI, Austin JC, Baty BJ, Bergner AL, Brewster SJ, Erby LA, Franklin CR, Greb AE, Grubs RE, Hooker GW, Noblin SJ, Ormond KE, Palmer CG, Petty EM, Singletary CN, Thomas MJ, Toriello H, Walton CS, Uhlmann WR. 2013 Review and update of the genetic counseling practice based competencies by a task force of the Accreditation Council for Genetic Counseling. J Genet Couns. 2016 Oct;25(5):868-79. doi: 10.1007/s10897-016-9984-3. PubMed PMID: 27333894
Freeman KA, Olufs E, Tudor M, Roullet JB, Steiner RD. A pilot study of the association of markers of cholesterol synthesis with disturbed sleep in Smith-Lemli-Opitz syndrome. J Dev Behav Pediatr. 2016 Jun;37(5):424-30. doi: 10.1097/DBP.0000000000000317. PubMed PMID: 27244299; PubMed Central PMCID: PMC4890614.
George A, Zand DJ, Hufnagel RB, Sharma R, Sergeev YV, Legare JM, Rice GM, Scott Schwoerer JA, Rius M, Tetri L, Gamm DM, Bharti K, Brooks BP. Biallelic mutations in MITF cause coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness. Am J Hum Genet. 2016 Dec 1;99(6):1388-1394. doi: 10.1016/j.ajhg.2016.11.004. PubMed PMID: 27889061; PubMed Central PMCID: PMC5142105.
Kuhl A, van Calcar S, Baker M, Seroogy CM, Rice G, Scott Schwoerer J. Development of carrier testing for common inborn errors of metabolism in the Wisconsin Plain population. Genet Med. 2016 Aug 11. doi: 10.1038/gim.2016.104. [Epub ahead of print] PubMed PMID: 27513192. *
Legare JM, Modaff P, Iskandar BJ, Pauli RM. Syringomyelia in hereditary multiple exostosis. Am J Med Genet A. 2016 Nov;170(11):2956-2959. doi: 10.1002/ajmg.a.37854. PubMed PMID: 27480811.
Montaño AM, Lock-Hock N, Steiner RD, Graham BH, Szlago M, Greenstein R, Pineda M, Gonzalez-Meneses A, Çoker M, Bartholomew D, Sands MS, Wang R, Giugliani R, Macaya A, Pastores G, Ketko AK, Ezgü F, Tanaka A, Arash L, Beck M, Falk RE, Bhattacharya K, Franco J, White KK, Mitchell GA, Cimbalistiene L, Holtz M, Sly WS. Clinical course of sly syndrome (mucopolysaccharidosis type VII). J Med Genet. 2016 Jun;53(6):403-18. doi: 10.1136/jmedgenet-2015-103322. Epub 2016 Feb 23. PubMed PMID: 26908836; PubMed Central PMCID: PMC4893087.
Ney DM, Stroup BM, Clayton MK, Murali SG, Rice GM, Rohr F, Levy HL. Glycomacropeptide for nutritional management of phenylketonuria: a randomized, controlled, crossover trial. Am J Clin Nutr. 2016 Aug;104(2):334-45. doi: 10.3945/ajcn.116.135293. PubMed PMID: 27413125; PubMed Central PMCID: PMC4962165.
Pauli RM. Letter to the editor: Response to two recent articles regarding achondroplasia. Am J Med Genet A. 2016 Apr;170(4):1099-100. doi: 10.1002/ajmg.a.37540. Epub 2016 Jan 11. PubMed PMID: 26753848.
Pollock AJ, Allen DB, Wiebe D, Eickhoff J, MacDonald M, Baker M. Development of filter paper hemoglobin A1c assay applicable to newborn screening. Clin Chim Acta. 2016 Jun 1;457:24-6. doi: 10.1016/j.cca.2016.03.014. Epub 2016 Mar 23. PubMed PMID: 27016455; PubMed Central PMCID: PMC4875889.
Rice GM, Steiner RD. Inborn errors of metabolism (metabolic disorders). Pediatr Rev. 2016 Jan;37(1):3-15; quiz 16-7, 47. doi: 10.1542/pir.2014-0122. PubMed PMID: 26729777.
Rovozzo R, Korza G, Baker MW, Li M, Bhattacharyya A, Barbarese E, Carson JH. CGG repeats in the 5'UTR of FMR1 RNA regulate translation of other RNAs localized in the same RNA granules. PLoS One. 2016 Dec 22;11(12):e0168204. doi: 10.1371/journal.pone.0168204. PubMed PMID: 28005950; PubMed Central PMCID: PMC5179066.
Stroup BM, Held PK, Williams P, Clayton MK, Murali SG, Rice GM, Ney DM. Clinical relevance of the discrepancy in phenylalanine concentrations analyzed using tandem mass spectrometry compared with ion-exchange chromatography in phenylketonuria. Mol Genet Metab Rep. 2016 Jan 16;6:21-6. doi: 10.1016/j.ymgmr.2016.01.001. eCollection 2016 Mar. PubMed PMID: 27014575; PubMed Central PMCID: PMC4789345.
*ePub only; no print citation available when report was compiled
** Publication had previously appeared in 2015 report as an ePub
Our faculty were principal investigators and/or co-investigators on the following grants during calendar year 2016.
|Baker, Mei Wang (co-PI) with Farrell, Phillip M (co-PI) and Rock, Michael J (co-I)||Legacy of Angels||A Prospective Study of Newborn Screening for Cystic Fibrosis Using a Novel IRT/Next Generation Sequencing Method|
|Baker, Mei Wang (PI)||DHHS, PHS, National Institutes of Health||Establishing a Newborn Screening Process for Early Identification of Infants with Pompe Disease|
|Baker, Mei Wang (co-I) with Mailick, Marsha (PI)||DHHS, PHS, National Institutes of Health||FMR1 Premutation Phenotypes in Population-Based & Clinically-Ascertained Samples|
|Baker, Mei Wang; Laffin, Jennifer; Rice, Gregory; Scott Schwoerer, Jessica (collaborators) with Seroogy, Christine (PI) and Wald, Ellen (co-I)||UWF - Wisconsin Partnership - MERC||Improved Health Care Delivery to Wisconsin Amish Infants|
|Pauli, Richard (PI)||Johns Hopkins University||Multi-center Achondroplasia Patient Registry|
|Petty, Elizabeth (PI) with Carrel, Aaron (co-I)||UWF - Wisconsin Partnership - MERC||Engaging Clinicians in Online Social Learning to Close Knowledge Gaps in Community Health: Pilot Focus on Obesity and Mental Health Care|
|Petty, Elizabeth (co-I) with Navsaria, Dipesh (Tier 3 Director) and Remington, Patrick (PI)||HRSA||Training in Primary Care Medicine-Interdisciplinary and Interprofessional Graduate Joint Degree Program|
|Petty, Elizabeth M (REC director) with Drezner, Marc (PI)||DHHS, PHS, National Institutes of Health||UW-ICTR|
|Rice, Gregory M (co-I) with Ney, Denise (PI)||FDA||Phase 2 Study of Glycomacropeptide vs Amino Acid Diet for the Management of PKU|
|Scott Schwoerer, Jessica A (PI)||Michigan Public Health Institute||Defining the Natural History of Inborn Errors of Metabolism Collaborative|
|Scott Schwoerer, Jessica A (PI) with Rice, Gregory (co-I)||Wisconsin Dept of Health Services||Congenital Disorders Program|
|Wargowski, David S (PI)||DHHS, PHS, Centers For Disease Control & Prevention||FASD Practice and Implementation Center for Pediatrics|
|Wargowski, David S (PI)||Wisconsin Dept of Health Services||Congenital Disorders|
|Wargowski, David S (PI)||Wisconsin Dept of Health Services||Clinical Genetics Unit|