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.

L-2-hydroxyglutaric aciduria in an adolescent male with mild cognitive impairment.

This poster (#0302) will be presented at the ACMG Annual Clinical Genetics Meeting by Amy Knight Johnson, our genetic counselor, Friday March 22: 10:30am-11:30am.  Stop by and learn more

L-2-hydroxyglutaric aciduria (L2HGA) is a rare neurometabolic disorder with autosomal recessive inheritance, associated with accumulation of L-2-hydroxyglutaric acid (L-2-HG) in urine and mutations in the L2HGDH gene. We present a case of a 14 year old male with a history of developmental delays and 2-hydroxyglutaric aciduria.