Department of Medicine - Surgery - University of Minnesota

Division of Genetics54Both King and Oetting haveregularly scheduled lecturesas part of the medicine residenteducational program,as well as institutional anddepartmental seminars.ResearchOne emphasis of research inthe Division of Genetics forboth King and Oetting hasbeen the genetic regulation ofmelanin biosynthesis in themodel system of human oculocutaneousalbinism. Clinical,biochemical, and molecularstudies have provided informationfor accurate definitionand classification ofgenetic disorders of humanpigmentation. ImportantFacultyProfessorRichard A. King, M.D., Ph.D.Assistant ProfessorWilliam S. Oetting, Ph.D.Faculty Honors andAwards for 2005Richard A. King, M.D., Ph.D.Editor-in-Chief for Genetics inMedicine, the official journal of theAmerican College of Medical Genetics.William Oetting, Ph.D.Secretary/Treasurer,Human Genome Variation SocietyBoard Member, PanAmerican Societyfor Pigment Cell Research.genes involved in the synthesisand regulation of melaninsynthesis have been identified,cloned, and analyzed formutations responsible for lossof function. The molecularanalyses have led to the currentgene-based classificationof oculocutaneous albinism(in comparison to the impreciseclinical classificationbased on pigmentation patterns),and this has aided infamily counseling and planning.Current work includesgenomic studies to investigatethe role of melanin formationon the development of theretina and optic nerves.A second major area ofemphasis for the divisioninvolves gene mapping andlocalization for complexdiseases. A collaborativestudy between King, Oetting,and Malcolm Blumenthal,M.D. Division of Pulmonary,Allergy, and CriticalCare involves the mappingand identification of genesresponsible for componentsof the asthma phenotype.A major quantitative traitlocus (QTL) has been identifiedon chromosome 2 andgenetic and genomic studiesare underway to identify thegene and the associated singlegene polymorphism (SNP)in this region. A collaborativestudy between King andMarshall Hertz, M.D. Divisionof Pulmonary, Allergy, andCritical Care uses microarrayanalyses of peripheral bloodand bronchoalveolar lavagemacrophagesto identifygenes and genetic pathwaysinvolved in acute and chronicrejection. A gene expressionprofile has been identified inbronchioalveolar lavage cellsin patients undergoing acuterejection of the transplantedlung, and studies are underwayto correlate this expressionprofile with the standardbronchial biopsy approach topatient follow up.A collaborative projectbetween Dr. Oetting andArthur Matas, M.D. Departmentof Surgery, involves theanalysis of gene polymorphismsin kidney transplantoutcomes to determine ifspecific alleles in candidategenes of both recipients anddonors alter the outcome ofsolid organ transplantation.A collaborative projectbetween Oetting and HassanIbrahim, M.D. Departmentof Medicine, involves a proteomicapproach to studykidney transplant rejection.A major goal of this project isto identify biomarkers associatedwith different clinicalstates, but for predictive testingand to better understandthe biology of rejection.A collaborative study betweenKing and Russell Luepker,M.D., M.S. Epidemiology Division,School of Public Health,has identified mutations inLong QT syndrome genes inapproximately 11 percent ofindividuals who die suddenlyout-of-hospital with no obviousexplanation.Other collaborative projectsinclude a study betweenOetting and Matt McGue,Ph.D. in the Department ofPsychology in the Collegeof Liberal Arts to determinethe association of specificDNA variants with behaviorand studies with AngelaBirnbaum, Ph.D. and PamelaJacobson, Pharm.D. in theCollege of Pharmacy toprovide pharmacogeneticanalysis for anti-epilepticdrugs and immunosuppressantdrugs.The division is committed to providinghigh quality care to patients and familieswith genetic susceptibility and disease.