Mei Baker, MD

Position title: Professor, Pediatrics - Genetics & Metabolism

Mei Baker, MD

MD, Anhui Medical University
Co-Director, Newborn Screening Laboratory

Contact Information

Wisconsin State Laboratory of Hygiene
465 Henry Mall
Madison, WI 53706
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