Meet our ABMG-Molecular Genetics Fellows

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.

Where are they Now? Gordana Raca MD, PhD.

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.

New Next Generation Sequencing Panel for Neonatal Diabetes and Maturity-Onset Diabetes of the Young

The University of Chicago Genetic Services Introduces New Next Generation Sequencing Panels for Neonatal Diabetes and Maturity-Onset Diabetes of the Young

Neonatal Diabetes Mellitus (NDM) is diabetes diagnosed within the first 6 months of life and can be characterized as either permanent (PNDM), requiring lifelong treatment, or transient (TNDM), which typically resolves by 18 months of age. NDM is rare with an incidence of approximately 1:1,000,000-260,000 live births.

New Next Generation Sequencing Panels for Lipodystrophies

The University of Chicago Genetic Services Introduces New Next Generation Sequencing Panels for Lipodystrophies

Lipodystrophies are characterized by generalized or partial absence of adipose tissue and are typically considered in individuals with insulin resistance, significant dyslipidaemia and fatty liver. Lipodystrophies are typically classified according to the anatomical distribution of fat tissue