School of Medicine
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Clinical Instructor, Pediatrics - Medical Genetics
BioChristy is originally from Wilmington, Delaware. Growing up she developed a strong interest in plants and horticulture which landed her at Virginia Tech where she studied Biochemistry. In time, her interest in plants grew into a love of plant genetics which further evolved into a passion for human genetics. As an MD/PhD student at the University of Maryland, Christy had the privilege of studying Human Genetics and Genomic Medicine under the mentorship of Dr. Alan Shuldiner who is best known for his studies in the Old Order Amish and the establishment of the University of Maryland’s Amish Research Clinic in Lancaster, Pennsylvania. Christy’s dissertation research utilized a “genotype to phenotype” approach to glean insights into human biology by systematically filtering for nonsense single nucleotide variants (SNVs) that are rare in the general population but enriched in the Old Order Amish due to founder effect. Specifically, her research focused on elucidating the impact of decreased serum sulfate levels on human health through individuals with nonsense variants in a sulfate transporter gene (SLC13A1), particularly in regard to acetaminophen toxicity, bone and cartilage development, adrenal hormone levels, and autism spectrum disorder. This work was accomplished and is continuing through deep phenotyping of humans with loss-of-function variants in SLC13A1 and through the use of zebrafish models. Having entered medical school in 2010 with the desire to pursue Medical Genetics as a clinical specialty, the translational research opportunities provided to Christy during her graduate studies further solidified this desire. In addition to her graduate work, Christy also worked as a technician in the University of Maryland Biochemical Genetics Laboratory and completed a post-doctoral internship at the Regeneron Genetics Center in Tarrytown, New York. Christy’s interests lie in the opportunity to discover and test new diagnostics and therapeutics for genetic conditions, for it is the undiscovered aspects of medicine that interest her the most. This is an unbelievably thrilling time for the field of Medical Genetics, as it promises immense progress and opportunity for all fields of medicine, and Christy is determined, honored, and incredibly excited to be a part of it!
Research interests: Mendelian analysis, novel gene discovery, variant interpretation, GWAS/ExWAS, founder populations, diagnostic genetic testing, biochemical genetics, bioethics
Hannes Vogel MD
Professor of Pathology and of Pediatrics (Pediatric Genetics) and, by courtesy, of Neurosurgery and of Comparative Medicine
Current Research and Scholarly InterestsMy research interests include nerve and muscle pathology, mitochondrial diseases, pediatric neurooncology, and transgenic mouse pathology.