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Fetal adrenal and gonadal sex hormone synthesis in health and disease

Final Report Summary - FSHS (Fetal adrenal and gonadal sex hormone synthesis in health and disease)

Final publishable summary report: European Reintegration Grants PERG7-GA-2010-268270 Acronym: FSHS

Dr Reisch has fully met all the objectives which were specified in the original application. Through persistence, excellent planning and hard and systematic work she achieved establishing novel methods and obtaining exciting results. After she returned to Germany following her Marie-Curie-Fellowship in Birmingham (2008-2010), she successfully applied for a number of grants and established an independent research group studying disease mechanisms and the treatment of congenital adrenal hyperplasia (CAH) in adults.
She and her co-workers have submitted and presented her work at several national and international meetings. She managed to establish her own research group, currently consisting of a post-doc, five doctoral students, a research technician and a study nurse. With her group she now represents a completely independent research group at the Medizinische Klinik IV at the LMU Munich substantially strengthening the research profile of the department.
Her group achieved an impressive number of publications that are already online, submitted or imminent to be submitted. All publications are of excellent quality published in peer-reviewed journals with high impact in her field of research. In addition, she has complemented and rounded her training. She finished her specialty training and took the exam for the specialty of internal medicine , endocrinology and diabetology (Facharzt für Innere Medizin, Endokrinologie und Diabetologie). Furthermore, she finished her Habilitation. A few months ago she received a formal offer for a W2 professorship for endocrinology at the University of Bonn. After careful consideration she, however, decided to decline the call. The discussions and negotiations in Bonn made her realise that she was seeking a more independent role in the faculty, a stronger focus on research and broader scientific development opportunities than what seemed to be possible in Bonn.
During her Marie Curie Intra-European Fellowship she also designed an experimental protocol and executed preliminary work for the project “Analysing protein degradation of 21-hydroxylase as a novel approach towards an improved understanding of the molecular pathogenesis of congenital adrenal hyperplasia”. For this project she was awarded 10,000 GBP from the Society for Endocrinology (SfE Early Careers Grant 2009). Using funding from her Marie Curie Re-Integration grant and from her LMU excellence grant she could move this project forward after her return to Munich. A first publication from this project is anticipated by mid/end of 2016. This project and preliminary findings also support her ongoing application process for a subproject in the SFB-Transregio Munich-Dresden on “The Adrenal: Central Relay in Health and Disease” (Speaker Prof. S. Bornstein) and will be one of her main research topics over the course of the next five years.

Researchers at the university of Sheffield, UK and the company Diurnal® have developed a novel modified release formulation of hydrocortisone (Chronocort→). It was specifically developed for patients with CAH and is the first and only orphan drug for CAH. Chronocortis anticipated to closely mimic the physiological circadian profile for cortisol and provide optimal control of all forms of adrenal insufficiency. Currently the international phase III phase is running. Among the five centres world-wide, the Munich Centre with Dr. Reisch as PI is the only German site for this study.
Her research on CAH covers the whole spectrum of basic research addressing the pathophysiological basis of CAH as well as clinical aspects with highly relevant practical benefit for patients as the disease, its treatment and the side effects of therapy affect important aspects of life such as fecundity and fertility, psychological well-being and the health of the cardiovascular systems.
All in all, Dr Reisch by now is an outstanding, highly successful young PI who achieved exceptional output both in quantity and quality during the lifetime of her Marie Curie Re-Integration Grant. She has exceeded expectations in her performance and shown all abilities that are required for a future independent research leader.

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