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...
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...
Application Systems Analyst
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
Scott Topper has a Ph.D. in Genetics from the University of Wisconsin-Madison, where he worked in yeast functional genomics and systems biology. His research investigated dynamic relationships between the proteome and transcriptome as cells respond and adapt to stressful changes in their...
Clinical Molecular Fellow
Ghayda Mirzaa recently completed the clinical genetics fellowship at the University of Chicago, and of the pediatrics residency training program at the University of Illinois at Chicago. Our laboratory has a special focus on the genetics of congenital brain malformations, which is a primary...
Clinical Molecular Fellow
Yu-Wei Cheng grew up in Taiwan, served two years in military, then came to the United States for Ph.D. study. Soon after, he did a postdoctoral training with Dr. Francis Barany at Weill Cornell Medical College where he was later promoted to assistant research professor. His research focused on...
