Medical Genetics

Research

Gregory M. Enns, MB, ChB

Research interests include novel means of diagnosing and treating mitochondrial disorders, with an emphasis on antioxidant therapy, lysosomal disorders, and newborn screening by tandem mass spectrometry. Current pursuits include the analysis of glutathione and antioxidant status in patients who have mitochondrial disorders and the development of new techniques for diagnosing these conditions.

Louanne Hudgins, MD

Has special interests in the following areas: limb anomalies, hearing loss, genetic disorders involving the skin, and prenatal diagnosis and screening. Her collaborations with basic science researchers include: 1) identifying fetal DNA in maternal serum for diagnosis of Down syndrome; 2) studying abnormalities in the NFAT pathway as a possible etiology for Down syndrome.

Melanie A. Manning, MD

Her research interests are focused toward the areas of Fetal Alcohol Syndrome, Down Syndrome and chromosome abnormalities

Kelly Ormond, MS

Ms Ormond is a board certified genetic counselor, and serves as the Director of the MS in Human Genetics and Genetic Counseling. Her major areas of interest include ethical and social issues in medical genetics and genetics research, specifically aspects of informed consent, how families and patients make decisions, and disability studies.

 

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