Principles and Informatic Infrastructure for Implementing Diagnostic Next-Generation Sequencing for Genetically Heterogeneous Conditions

This poster (#1737W) will be presented at the 62nd Annual Meeting of the American Society of Human Genetics by Scott Topper, assistant director of UCGS, Wednesday November 7: 2:15pm-3:15pm.  Stop by and learn more

Potentials Foundation - a support group for individuals and families with microcephalic primordial dwarfism

The University of Chicago Genetic Services provides testing for microcephalic primordial dwarfism.  Here is an article by The Potentials Foundation president, Bob Walker, describing his organizations mandate and mission to support families with these conditions.   

Where are they now? Shalini Reshmi, Ph.D.

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.

Complex rearrangement of MTM1: a case for deletion/duplication testing when there is a strong clinical suspicion of myotubular myopathy and conventional sequencing is negative

Myotubular myopathy (MTM) is one of the most severe neuromuscular disorders of childhood, typically presenting at or around the time of birth with profound hypotonia, severe extremity weakness, progressive ophthalmoparesis, and, often, respiratory failure.  The diagnosis of myotubular myopathy is considered when these features are present in an infant or young boy (it is an X-linked condition) in conjunction with muscle biopsy findings typical of a centronuclear myopathy (small type I fibers, increased central nuclei, and irregular/disorganized appearance of oxid

Meet the Team - Darrel Waggoner, M.D.

Darrel J. Waggoner, M.D., FACMG is the Medical Director of the UCGS and Professor of Human Genetics and Pediatrics at the University of Chicago. Dr. Waggoner specializes in the treatment of metabolic and genetic disorders in children and adults. He sees patients in the Medical Genetics, Craniofacial, and Neurogenetics Clinics, and provides genetics consultation services for patients within the University of Chicago Medicine.