Clinical Molecular Genetics & Clinical Cytogenetics Fellowship Training


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.


The major components of the training programs in clinical molecular genetics and clinical cytogenetics are as follows:

  • Learning all aspects of clinical testing performed in the laboratory, from sample receipt and log in, patient chart review, generation and interpretation of test results, reporting of results and related quality control issues.
  • Performing a research project.
  • Attending specific courses and lecture series (see below for more information).
  • Participating in departmental journal clubs, seminars and case conferences.

Course/Lecture series description

HGEN 47000 – Human Genetics I: Human Genetics. This is a graduate course in human genetics that will be audited by the molecular genetics and cytogenetics fellows. This course covers classical and modern approaches to studying cytogenetic, Mendelian, and complex human diseases. Topics include chromosome biology, human gene discovery for single gene and complex diseases, non-Mendelian inheritance, mouse models of human disease, cancer genetics, and human population genetics. The format includes lectures and student presentations.

Medical Genetics Core Lecture Series – This comprises a series of 25-30 lectures on molecular genetics, cytogenetics, cancer cytogenetics as well as different aspects of clinical genetics and genetic syndromes. This is given every other year.


The clinical molecular genetics and clinical cytogenetics programs are each a minimum of 2 years in length. Double board certification in clinical molecular genetics and clinical cytogenetics may be performed in 3 years, depending on the background of the individual.

Application Deadline

There is no deadline, however most fellowships will begin in July.

Financial Support

Financial support is available as part of the clinical laboratory program.


For training in Clinical Molecular Genetics:
Daniela del Gaudio, Ph.D.
Department of Human Genetics, Room G705
The University of Chicago
5841 S. Maryland avenue, M/C 0077
Chicago, IL 60637
Phone: 773-834-0555

For training in Clinical Cytogenetics:
Carrie Fitzpatrick, Ph.D.
Department of Pathology, Room G705
The University of Chicago
5841 S. Maryland Ave.
Chicago, IL 60637
Phone: 773-702-2922