Dr. Heather Yeowell Duke University Medical Center, USA1 Talk
Heather Yeowell is Professor Emerita of Medicine, Department of Dermatology, Duke University Medical Centre and a Senior Fellow of the Center for the Study of Aging and Human Development at Duke University. She is Adjunct Professor of Oral Biology at the University of North Carolina at Chapel Hill. Dr Yeowell... read moreis recognized internationally as an expert on the collagen-related disease, the kyphoscoliotic form of the Ehlers-Danlos syndrome (EDS VIA), and identification of the mutations in the lysyl hydroxylase1 (LH1) gene that are associated with enzyme deficiency. Another group of patients, designated EDS VIB, has the clinical phenotype of EDS VIA but no enzyme deficiency. Dr Yeowell is currently investigating the contribution of genes other than LH1 to the kyphoscoliotic phenotype. Other studies focus on the regulation of expression of the LH isoforms and the collagen-domain specificity of lysyl hydroxylation that determines the pattern of collagen cross-linking. Dr Yeowell was a former member of the Editorial Board of the Journal of Investigative Dermatology.