Mei Baker, MD
Professor, Pediatrics - Genetics & Metabolism
MD, Anhui Medical University
Co-Director, Newborn Screening Laboratory
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.
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.
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. In Press.
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.
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.
Baker MW, Atkins AE, Cordovado SK, Hendrix M, Earley MC, Farrell PM. (2015) Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study. Genetics in Medicine. In Press.
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.
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.
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.
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.
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.