Charles Institute Seminar Series 2022-23: On the hunt for genes for hair anomalies with Guest Speaker Professor Regina Betz
Date of Talk: Wednesday 19th April, 2023 @12PM
Location: Charles Seminar Room / Online Via Zoom
Talk Title: On the hunt for genes for hair anomalies
Speaker Details: Professor Regina Betz, MD
Institute of Human Genetics
University Hospital of Bonn, Germany
Short Biography: Regina Betz is Professor of Dermatogenetics at the Institute of Human Genetics at the University of Bonn in Germany. After studying medicine at the University of Saarland and the Karolinska Institute Stockholm, she worked as postdoctoral fellow at the Karolinska Institute Stockholm, and the Universities of Freiburg, Bonn and Antwerp before she started her Emmy Noether investigator research group in Bonn in 2004. In 2010, she was appointed as Heisenberg Professor for Dermatogenetics in Bonn, which became tenured in 2015. The particular research focus of her working group is dermatogenetics, with a main interest in diverse forms of monogenic and genetically complex alopecias and hyperpigmentation disorders. The work, and primarily the elucidation of numerous disease genes, was rewarded by a number of prizes and awards and is documented in more than 140 publications, among them several publications in high-ranking international journals (e.g., Nature Genet., Am J Hum Genet, J Invest Dermatol, Br J Dermatol). Dr. Betz has a board qualification in Human Genetics.
Abstract for talk: The main goal of the Betz group is to identify genes for monogenic and genetically complex hair loss diseases and hair anomalies and to elucidate the function of these genes. Recently, three genes (PADI3, TGM3 and TCHH) have been identified for uncombable hair syndrome (UHS) and a number of functional studies have been performed. In a follow-up study, nearly 90 patients with UHS were enrolled and the genetic spectrum of UHS was evaluated. Genes for hypotrichosis are also in the spotlight, and some recent studies on the LSS and SNRPE genes will be reported.
