My interest is in translating research findings to the application of disease diagnostics and in developing tools and implementing new technology to improve the diagnosis of human genetic disease. A main area of interest is orphan genetic disease with a focus on neurodevelopmental disorders....
Meet the Staff
Medical Director
My research in the past has focused on genetic diseases, which reveal insight into normal copper metabolism in the cell. I am now more involved in the clinical aspect of the Department of Human Genetics and am interested in developing research projects from the clinical perspective. In addition...
Associate Director, Molecular Diagnostic Laboratory
The focus of our laboratory is the development and implementation of novel molecular approaches for the diagnosis of orphan genetic diseases. The primary focus of my work is the development of oligonucleotide array-CGH platforms for the detection of copy number abnormalities in multiple genes...
Assistant Director, Molecular Diagnostic Laboratory
My interests currently lie in developing next-generation sequencing assays for the diagnosis of rare neurological diseases, and developing relationships with clinicians and scientists to develop knowledge networks necessary for comprehensive testing and accurate interpretation. Recognizing that...
Senior Laboratory Genetic Counselor
Since 2007, I have also acted as a laboratory genetic counselor for the University of Chicago Genetic Services Laboratory. This has included assisting physicians, genetic counselors and referral laboratories inquiring about testing in our laboratory, performing initial reviews of incoming...
Genetic Counselor
I joined the University of Chicago Genetic Services Laboratory team in 2012 as a laboratory genetic counselor. I am available to answer questions about our tests from healthcare providers and referral laboratories. My other responsibilities include performing initial reviews on the samples we...
Senior Programmer
I provide bioinformatics support to the clinical diagnostics group at The University of Chicago. I work closely with various post-doctoral fellows in the lab on various research projects using Next-Generation Sequencing and Array-CGH . I also work on creating and maintaining automated software...
Clinical Molecular Fellow
Zejuan Li joined Dr. Janet Rowley’s laboratory at the University of Chicago as a postdoctoral fellow after she received her M.D. and Ph. D in China. She was promoted to a Research Assistant Professor four years later. Her research focused on the study of microRNAs and protein coding genes in...
Clinical Molecular Fellow
After completing her PhD, Agata Minor knew that her interests lied in genetic diagnostics. She also knew that she wanted to do a dual board certification in Cytogenetics and Molecular Genetics. The opportunity for training brought her to the University of Chicago. Agata completed her training...
