Regina C. Betz
Prof. Dr. Regina C. Betz
  • Institut für Humangenetik, Universitätsklinikum Bonn
Research topics
  • alopecia
  • genetics
  • skin disorders
The aim of our research is the identification and functional characterization of genes for monogenic and multifactorial skin and hair disorders, with a major focus on disorders of hair loss. Our projects have the long-term aim of systematically understanding the complete physiology of hair growth. The starting point of the projects, which are based on molecular genetic approaches, is to identify new genes on the basis of disease phenotypes. Newly identified genes and insights regarding their function will supply us with fundamental information about the molecular and pathophysiological mechanisms underlying hair loss and hair growth. In recent years, we were able to identify more than 10 novel genes for monogenic forms of hair loss and hair abnormalities, and 3 genes for the hyperpigmentation disorder Dowling-Degos, as well as 14 gene loci for alopecia areata (AA). Recent studies on AA led to interesting drug targets for novel therapeutic approaches for AA.
Selected publications

Pasternack SM, von Kügelgen I, Al Aboud K, Lee Y-A, Rüschendorf F, Voss K, Hillmer AM, Molderings GJ, Franz T, Ramirez A, Nürnberg P, Nöthen MM, Betz RC (2008) G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth. Nature Genet 40:329-334.

Betz RC, Petukhova L, Ripke S, Huang H, Menelaou A, Redler S, Becker T, Heilmann S, Yamany T, Duvic M, Hordinsky M, Norris D, Price VH, Mackay-Wiggan J, de Jong A, DeStefano GM, Moebus S, Böhm M, Blume-Peytavi U, Wolff H, Lutz G, Kruse R, Bian L, Amos CI, Lee A, Gregersen PK, Blaumeiser B, Altshuler D, Clynes D, de Bakker PIW, Nöthen MM, Daly MJ, Christiano AM (2015) Meta-analysis of genome-wide association studies in alopecia areata resolves HLA associations and reveals two new susceptibility loci. Nat Commun 6:5966.

Basmanav FBÜ, Cau L,* Tafazzoli A,* Méchin M-C,* Wolf S, Romano MT, Valentin F, Wiegmann H, Kandil R, Garcia Bartels N, Kilic A, George S, Ralser DJ, Bergner S, Ferguson DJP, Oprisoreanu A-M, Wehner M, Thiele H, Altmüller J, Nürnberg P, Swan D, Houniet D, Wagner N, Grimalt R, Bygum A, Serre G, Blume-Peytavi U, Sprecher E, Schoch S, Oji V, Hamm H, Farrant P, Simon M,* Betz RC* (2016) Mutations in three genes encoding proteins involved in hair shaft formation cause uncombable hair syndrome. Am J Hum Genet 99:1292-1304.

Ralser DJ, Basmanav FB, Tafazzoli A, Wititsuwannakul J, Delker S, Danda S, Thiele H, Wolf S, Busch M, Pulimood SA, Altmüller J, Nürnberg P, Lacombe D, Hillen U, Wenzel J, Frank J, Odermatt B, Betz RC (2017) PSENEN mutations underlie Dowling-Degos disease associated with acne inversa: J Clin Invest 127:1485-1490.

Regina C. Betz
Prof. Dr. Regina C. Betz
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