QualificationsPh.D.. Expertise and Research InterestsClinical and research on genetic causes of human disease. Prenatal diagnosis for human genetic disorders as well as mutation detection strategies. Specializing in genetic skin disorders esp epidermolysis bullosa and related disorders. Other ExpertisePrevious expertise in clinical testing for fragile X syndrome, duchenne muscular dystrophy, sickle cell anemia, hemophilia, cystic fibrosis and achondroplasia as well as clonality studies for B cell and T cell lymphoma and leukemia. Future ResearchGene therapy for epidermolysis bullosa. Industrial Relevancemutation detection strategies for human disease and SNP discovery using multiple strategies including dHPLC. KeywordsCOS Keywords:Medical Disciplines or Fields.Additional Terms:Disease Association Strategies, Epidermolysis Bullosa, Human Genetic Disorders, Human Genetics, Mutation Detection, Prenatal Diagnosis, Snp Discovery.MembershipsAmerican Association for the Advancement of Science American Society of Human Genetics Society of Investigative Dermatology Profile DetailsLast Updated: 4/27/2006 COS Expertise ID #964501 Reference this profile directly: http://myprofile.cos.com/pfender Individual Expertise profile of Ellen G. Pfendner, Copyright Ellen G. Pfendner. © COS ExpertiseTM, 2010, ProQuest LLC All rights reserved. |