Mei Baker, MD
Position title: Professor, Pediatrics - Genetics & Metabolism

MD, Anhui Medical University
Co-Director, Newborn Screening Laboratory
Contact Information
Wisconsin State Laboratory of Hygiene
465 Henry Mall
Madison, WI 53706
608.890.1796
mwbaker@wisc.edu
Lab Website: Wisconsin State Laboratory Hygiene
Research Statement
My research interest is public health genetics and genomics, with a focus on applying and translating advanced biochemical and molecular technologies into routine newborn screening practice to enable public health laboratories to screen for new conditions and improve screening performance for the exiting screened conditions.
The method I developed to screen for severe combined immunodeficiency (SCID) has two improved characteristics compared to the one reported in the literature at the time I began my work: the method is amenable to the high throughput required by public health NBS laboratories, and will produce 10-fold fewer false positive cases. I further implemented this SCID screening method at the Wisconsin NBS laboratory to establish the first statewide NBS for SCID in the world. On a collaborative research project on prevalence of the Fragile X pre-mutation. I was responsible for assay performance and data analysis on FMR1 gene CGG repeats determination. With my expertise in applying advanced molecular technology to high throughput, population based screening, I was able to expand the study cohort to an additional 20,000 study subjects, resulting in a valuable data set for the future further study. With a funding from NIH/NICHD, I am currently leading a newborn screening for Pompe disease pilot project. The purpose of this project is to establish and evaluate a process of newborn screening for Pompe disease to facilitate early identification and treatment of infants with Pompe disease.
Besides the new initiatives, my research interest also extends to further improvement of the newborn screening methods to result in fewer false positives. I conducted a study to evaluate the IRT/DNA protocol used for cystic fibrosis screening based on 14 years of Wisconsin experience. Based on this study, I identified the need to further improve the current screening protocol, and developed a method of simultaneously detecting large numbers of CFTR mutations on DNA samples isolated from dried blood NBS specimens using next generation sequencing technology (NGS). I am currently leading a prospective study of assessing the utilities of NGS in NBS for cystic fibrosis in the Wisconsin Newborn Screening Program.
Selected Publications
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Hong, J., Dembo, R. S., DaWalt, L. S., Baker, M. W., Berry-Kravis, E., & Mailick, M. R. (2023). Mortality in Women across the FMR1 CGG Repeat Range: The Neuroprotective Effect of Higher Education. Cells, 12(17), 2137. https://doi.org/10.3390/cells12172137
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Rock, M. J., Baker, M., Antos, N., & Farrell, P. M. (2023). Refinement of newborn screening for cystic fibrosis with next generation sequencing. Pediatric Pulmonology, 58(3), 778–787. https://doi.org/10.1002/ppul.26253
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Williams, K. B., Lasarev, M. R., Baker, M., & Seroogy, C. M. (2023). Cross-sectional survey on genetic testing utilization and perceptions in Wisconsin Amish and Mennonite communities. Journal of community genetics, 14(1), 41–49. https://doi.org/10.1007/s12687-022-00621-z
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Maltman, N., DaWalt, L. S., Hong, J., Baker, M. W., Berry-Kravis, E. M., Brilliant, M. H., & Mailick, M. (2023). FMR1 CGG repeats and stress influence self-reported cognitive functioning in mothers. American journal on intellectual and developmental disabilities, 128(1), 1–20. https://doi.org/10.1352/1944-7558-128.1.1
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Singh, A., Dasgupta, M., Retherford, D., Baker, M., Hulihan, M., & Brandow, A. M. (2022). Surveillance for the Rare Condition of Sickle Cell Disease in Wisconsin. WMJ – The State Medical Society of Wisconsin, 121(4), 297–300.
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Kharrazi, M., Sacramento, C., Comeau, A. M., Hale, J. E., Caggana, M., Kay, D. M., Lee, R., Reilly, B., Thompson, J. D., Nasr, S. Z., Kleyn, M., Hoffman, G., Baker, M. W., Clarke, C., Harris, C. L., Dorley, M. C., Fryman, H., Sutaria, A., Hietala, A., Winslow, H., … Therrell, B. L. (2022). Missed cystic fibrosis newborn screening cases due to immunoreactive trypsinogen levels below program cutoffs: A national survey of risk factors. International journal of neonatal screening, 8(4), 58. https://doi.org/10.3390/ijns8040058
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Nicksic, V. B., Allen, D. B., Stanley, M. A., Baker, M. W., Eickhoff, J. C., & Kaluarachchi, D. C. (2022). Lack of association between gestational age adjusted TSH percentiles and neurodevelopmental outcomes among preterm infants. Journal of neonatal-perinatal medicine, 15(2), 243–247. https://doi.org/10.3233/NPM-210910
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Hong, J., DaWalt, L., Baker, M. W., Berry-Kravis, E. M., & Mailick, M. R. (2021). Is FMR1 CGG Repeat Number Polymorphism Associated With Phenotypic Variation in the General Population? Report From a Cohort of 5,499 Adults. Frontiers in psychiatry, 12, 727085. https://doi.org/10.3389/fpsyt.2021.727085
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Furnier, S. M., Durkin, M. S., & Baker, M. W. (2020). Translating Molecular Technologies into Routine Newborn Screening Practice. International journal of neonatal screening, 6(4), 80. https://doi.org/10.3390/ijns6040080
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Mailick MR, Hong J, DaWalt LS, Greenberg JS, Movaghar A, Baker MW, Rathouz PJ, Brilliant MH. (2020). FMR1 Low Zone CGG Repeats: Phenotypic Associations in the Context of Parenting Stress. Frontiers in Pediatrics, 8:223. doi: 10.3389/fped.2020.00223. PMID: 32478017; PMCID: PMC7240007.
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Held PK, Rice GM, Kuhl A, Drilias N, Baker M, Deline J, Spicer G, Sandrock C, Seroogy CM, Schwoerer JS. (2019). Newborn Screening for Inherited Metabolic Disorders: Early Identification and Long-Term Care for Patients in the Plain Community, Wisconsin, 2011-2017. Public Health Reports, 134(2_suppl):58S-63S. doi: 10.1177/0033354919878425.
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Kaluarachchi DC, Allen DB, Eickhoff JC, Dawe SJ, Baker MW. (2019). Increased Congenital Hypothyroidism Detection in Preterm Infants with Serial Newborn Screening. Journal of Pediatrics, 207:220-225. doi: 10.1016/j.jpeds.2018.11.044.
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Mailick MR, Movaghar A, Hong J, Greenberg JS, DaWalt LS, Zhou L, Jackson J, Rathouz PJ, Baker MW, Brilliant M, Page D, Berry-Kravis E. (2019). Health Profiles of Mosaic Versus Non-mosaic FMR1 Premutation Carrier Mothers of Children With Fragile X Syndrome. Frontiers in Genetics, 16;9:173. doi: 10.3389/fgene.2018.00173.
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Schwoerer JS, Drilias N, Kuhl A, Mochal S, Baker M. (2018). Genotypes of patients with phenylalanine hydroxylase deficiency in the Wisconsin Amish. Molecular Genetics and Metabolism Reports, 8;15:75-77.
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Kuhl A, van Calcar S, Baker M, Seroogy CM, Rice G, Scott Schwoerer J. (2017). Development of carrier testing for common inborn errors of metabolism in the Wisconsin Plain population. Genetics in Medicine. 19(3):352-356. doi: 10.1038/gim.2016.104
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Adamsheck HC, Petty EM, Hong J, Baker MW, Brilliant MH, Mailick MR. (2017) Is Low FMR1 CGG Repeat Length in Males Correlated with Family History of BRCA-Associated Cancers? An Exploratory Analysis of Medical Records. Journal of Genetic Counseling, 26(6):1401-1410. doi: 10.1007/s10897-017-0116-5.
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Mailick M, Hong J, Greenberg J, Dawalt LS, Baker MW, Rathouz PJ. (2017) FMR1 Genotype Interacts with Parenting Stress to Shape Health and Functional Abilities in Older Age. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 174(4):399-412. doi: 10.1002/ajmg.b.32529. PMCID:PMC5435525.
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Rovozzo R, Korza G, Baker MW, Li M, Bhattacharyya A, Barbarese E, Carson JH. (2016). CGG Repeats in the 5’UTR of FMR1 RNA Regulate Translation of Other RNAs Localized in the Same RNA Granules. PLoS One, 11(12):e0168204. doi: 10.1371/journal.pone.0168204.
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Baker MW, Atkins AE, Cordovado SK, Hendrix M, Earley MC, Farrell PM. (2016) Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study. Genetics in Medicine, 18(3):231-8. doi: 10.1038/gim.2014.209.
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Held PK, Haynes CA, De Jesús VR, Baker MW. (2014) Development of an assay to simultaneously measure orotic acid, amino acids, and acylcarnitines in dried blood spots. Clinica Chimica Acta. 25;436:149-54. doi: 10.1016/j.cca.2014.05.016.
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Mailick MR, Hong J, Rathouz P, Baker MW, Greenberg JS, Smith L, Maenner M. (2014) Low-normal FMR1 CGG repeat length: phenotypic associations. Frontiers in Genetics. 5:309.
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Doers ME, Musser MT, Nichol R, Berndt ER, Baker M, Gomez TM, Zhang SC, Abbeduto L, Bhattacharyya A. (2014) iPSC-derived forebrain neurons from FXS individuals show defects in initial neurite outgrowth. Stem Cells and Development. 1;23(15):1777-87.
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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. (2013) Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin. Molecular Genetics and Metabolism. S1096-7192(13)00136-4.
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Seltzer MM, Baker MW, Hong J, Maenner M, Greenberg J, Mandel D. (2012) Prevalence of CGG expansions of the FMR1 gene in a US population-based sample.. American Journal of Medical Genetics, Neuropsychiatric Genetics. 159B(5):589-97.