The Department of Human Genetics has American Board of Medical Genetics accredited training programs in clinical molecular genetics and clinical cytogenetics. The training programs have a wide range of clinical and research activities including orphan disease diagnostics, genotype-phenotype correlation studies, cancer genetics, translation of new gene discoveries for diagnostic purposes, technology development, centromere delineation, chromosome structure and function studies, and phenotype/karyotype studies. In addition, other research interests in the department include complex disease genetics, gene mapping, human gene variation and evolution and neurogenetics.

We currently have three fellows working towards their American Board of Medical Genetics Clinical Molecular Genetics Certification. Zejuan Li, Agata Minor, and Gorka Alkorta-Aranburu are valued members of our laboratory that work on clinical testing, along with projects of interest to them and the laboratory.

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 leukemia development and identifying biomarkers for leukemia diagnosis, prognosis and treatment using microarray analyses and sequencing. Her long term goal is to develop and apply state-of-the-art technologies, such as next generation sequencing to improve the diagnosis of human genetics disease, find the potential targets for the clinical treatment and bring that knowledge to the benefit of patients. With this goal, she started her clinical molecular genetics fellowship at University of Chicago in 2012.

After completing her PhD, Agata Minor knew that her interests lay 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 in Cytogenetics and is happy to be continuing her training in Molecular Genetics. She looks forward to acquiring the necessary skills and knowledge of current technologies to help diagnose human genetic disease

Gorka Alkorta-Aranburu came to the University of Chicago in 2007 to complete his PhD in Human Genetics during which he trained on genome-wide methylation testing, SNP genotyping, targeted capture and next-generation sequencing. After graduation, he continued his training on microbiome, exome and whole-genome sequencing as a postdoctoral researcher. His ultimate goal is to conduct research leading to the diagnosis and identification of genes as the underlying cause of inherited disease by establishing a diagnostic group with the latest technologies such as targeted, exome and genome-wide sequencing. This requires a deep understanding of how to translate this knowledge to the diagnostic arena, which led him to start his clinical molecular genetics fellowship at the University of Chicago in 2013.