ENSAT HT - Key Persons

Job Titles:

• Clinical Informatics Developer
• Clinical Informatics Developer in the EResearch Group at the University of Melbourne

Anthony Stell is a clinical informatics developer in the eResearch group at the University of Melbourne. In this role he is responsible for the project management and technical development of several advanced registries supporting clinical research in various domains such as adrenal cancer, spinal trauma and traumatic brain injury. He is the senior software developer for the ENSAT registry, which is a unique, well-used (with 76 active centers), security-focused resource for adrenal cancer, with advanced features to support statistical and bio-banking analyses for a diverse set of studies. Within ENSAT-HT Anthony is the senior technical developer for WP1 and will provide technical support and assistance for the underlying IT infrastructure. Anthony worked formerly as a Grid Engineer at the UK National e-Science Centre at the University of Glasgow where he developed distributed, real-time clinical systems to support brain-injury studies in Europe (the Avert-IT project) and epidemiological trials in the UK (the VOTES project). During this time he also served as a member of the Grid Engineering Task Force (Grid ETF, UK). He is currently in the final year of a PhD in Clinical Physics at the University of Glasgow studying clinical variation and guideline adherence in traumatic brain injury through neurological ICU data analysis. He has an MSc in Information Technology from the University of Glasgow, an MPhys in Astrophysics from the University of Edinburgh, and is a Chartered Member of the British Computing Society (CITP MBCS). He has over 40 peer-reviewed publications across a range of computing and application-specific domains.

Casper Kornbech Larsen is a postdoc in team 14 "Genetic mechanisms of aldosterone related disorders" at the Paris Cardiovascular Research Center. He is currently working on developing methods to isolate DNA and RNA from circulating extracellular vesicles for use in detection of primary aldosteronism He has studied biology at Aarhus University (Denmark) and received his Master Degree in 2011 and his PhD in 2015 from the Institute of Biomedicine at Aarhus University. The topic of his Master project was to explain why erythrocytes from ball pythons (python regius) are resistant to haemolysis by the poreforming toxin α-hemolysin from E. coli. In his PhD project, he studied the effect of ablation of the KCNMB2 gene on renal and colonic potassium excretion in a mouse model. He joined the team of Maria-Christina Zennaro in April 2016.

Catherine joined Inserm-Transfert in 2005. She graduated from the Ecole Normal Superieure, Catherine received a Ph.D. in Molecular Virology at the University René Diderot in 1996. She completed her studies mainly in the private sector (pre-doctoral study at Loreal and PhD thesis at Genset). After her thesis, she continued her research on cardiovascular disease in biotechnology companies. She also won the Aventis Foundation for the creation of the company Helios Biosciences and helped set up within the engineering school ESIEA a teaching methodology in bioinformatics and life sciences. She is a regular expert at the European Commission for the People program. Thanks to her job training and experience as project leader in biotech, Catherine has experience with managing international research projects and multidisciplinary. She is fluently bilingual through daily practice of English in their professional activities. As senior manager of the European project, Catherine Clusel acquired within 7 years of Inserm-Transfert extensive experience installing and managing European projects (FP6 and FP7) and transatlantic (Fondation Leducq) in the field of metabolic and cardiovascular diseases. She participated in the assembly and / or management projects such as: EVGN (FP6-NoE coordinated by Inserm), Florinash (FP7-medium-scale coordinated by INSERM) and MetaCARDIS (FP7-wide scale coordinated by INSERM). Catherine has a unique experience on the installation and management of transatlantic alliances Foundation Leducq (CAPTAA; cycAMP, MITRAL).

Dr Emily Jefferson joined the University of Dundee in 2012 and is the Director of the Health Informatics Centre (HIC). Emily read Biochemistry at the University of St Andrews before moving to attain a PhD in the more computational field of Bioinformatics at the University of Dundee. After a post-doc in Bioinformatics, Emily left academia to work in the banking sector for a large software company. She was promoted to Project Director, managing the delivery and development of multi-million pound software systems to several International Banks. Emily then took a career break to solo cycle from New Zealand to the UK over 1 year.

Job Titles:

• Scientific Coordinator

Head of INSERM U970 team 14: Genetic mechanisms of aldosterone-related disorders.

Job Titles:

• Co - Leader of WP2 and Will Contribute to WP4
• Professor Eleanor Davies, Institute of Cardiovascular and Medical Sciences, University of Glasgow
• Professor of Molecular Endocrinology at the BHF Glasgow Cardiovascular Research Institute

Tasks in the project: Eleanor Davies is co-leader of WP2 and will contribute to WP4. The main objective of WP2 is to perform genomic analyses in a discovery cohort using multiple individual platforms. Her team will contribute to obtaining circulating miRNA profiles in patients with Primary Aldosteronism and controls. The validity of the miRNA signature will be tested in a validation cohort in WP4. Biography: Eleanor Davies is Professor of Molecular Endocrinology at the BHF Glasgow Cardiovascular Research Institute at the University of Glasgow (UK). She received her BSc (Hons) in Biochemistry from the University of Glasgow and her PhD from the University of Edinburgh. She spent 3 years as a post-doctoral research fellow at INSERM U36 in Paris. At Glasgow, she leads a translational research group investigating the role of the mineralocorticoid aldosterone in cardiovascular disease, focusing on the regulation of its production by the adrenal gland and its role in hypertension. Her work has been funded by grants from the MRC, BHF, CSO and Hypertension Trust. It has been published in high profile journals and has been presented at several national and international meetings. She is co-director of the University MSc Cardiovascular Sciences programme and is the Institute Post-Graduate Director. She is a member of the Society for Endocrinology, The Endocrine Society and the American Heart Association. She is a member of council for the Society for Endocrinology and is a member of their publications and nominations committee and co-lead of the Society's adrenal/ cardiovascular Network. She serves as a reviewer for multiple national and international funding organisations and journals. She sits on the Chief Scientist Office committee for experimental and translational medicine and is the UK lead and member of an EU-COST ADMIRE network. She has served as an Editorial board member for Endocrinology and been Chairman of the International Aldosterone conference.

Job Titles:

• German Research Council Phase I

Fabio Fernandes-Rosa is associated researcher of team 14 "Genetic mechanisms of aldosterone related disorders" at the Paris Cardiovascular Research Center. He received his MD at the Federal University of Triangulo Mineiro (Brazil) and board certification in Pediatrics and Pediatric Endocrinology, as well as his Master Degree and PhD, at the School of Medicine of Ribeirao Preto (University of Sao Paulo, Brazil). He is a former attending physician at the Pediatric Endocrinology Service of the University Hospital of the School of Medicine of Ribeirao Preto (University of Sao Paulo, Brazil). His research field comprises Endocrinology and Pediatric Endocrinology subjects, in particular translational research in aldosterone related disorders as pseudohypoaldosteronism type 1 and primary aldosteronism. His actual project concerns genome-wide strategy to explore the genetics and genomics of primary aldosteronism, in order to generate knowledge translatable to patient's care. Fabio Fernandes-Rosa has been awarded for her work by the Brazilian Society of Endocrinology and Metabolism and the Capes Foundation (Brazil). He is member of the Endocrine Society, Brazilian Society of Endocrinology and Metabolism and the European Network for the Study of Adrenal Tumors (Ens@T), and serves as a reviewer for different international indexed scientific journals.

Tasks in the project: Franco Rabbia is participant from the UNITO group involved in WP4-5.

Tasks in the project: Franco Veglio is participant from the UNITO group involved in WP4-5.

Job Titles:

• Professor

Professor Gian Paolo Rossi, MD, is currently working as Chair (Tenure track) of Internal Medicine, Department of Medicine-DIMED-Hypertension Unit University hospital, Padova, Professor of Medicine, Department of Medicine University of Padova, Italy, Director of The High Blood Pressure Regional Center, The Department of Medicine, University of Padova Italy, Director of the International PhD Program Arterial Hypertension Vascular Biology, University of Padova Italy. He has received his MD degree from University of Padova Magna cum laude as well as certification from Post Graduate School of Cardiology, University of Padova, Post Graduate School of Endocrinology, University of Padova. European Hypertension Specialist by European Society of Hypertension (ESH). He trained at the Dept. Heart & Hypertension Research at the Cleveland Clinic. He was visiting Scientist at German Institute for High Blood Pressure Research, Department of Pharmacology University of Heidelberg Germany, visiting Professor at Medical Academy of Gdansk Institute of Pharmacology and Toxicology Berlin and the Egyptian Society of Hypertension. He is member of European Society of Hypertension, The American College of Cardiology, The American Heart Association, The International Society of Hypertension. He has served in the Executive Board of the Italian Society of Hypertension and The European Council for Cardiovascular Research ECCR, of which is is currently the President. His scientific duties include member of the Editorial Board of The World Journal of Cardiology, The Journal of Clinical Endocrinology and Metabolism, Hypertension. He has acted as Editor in Chief of Frontiers in Cardiovascular Medicine Hypertension section. He was International expert of French INSERM and acted as external reviewer for onsite visits aimed establishing new ISERM units. Known for his leadership and coordination capabilities Prof. Rossi acts as coordinator of working group on Endothelins and Endothelial Factors of the ESH, Primary Aldosteronism of the Italian Society of Hypertension, Principal Investigator of the Genica Study, the PAPY study, the PAPPHY Study, and the Metras Study. He has published 415 papers in National and International Journals and written 20 book chapters. He has been Selected for the Harry Goldblatt Award of the AHA; has been awarded The Unindustria Treviso 2003 Awards, The 2013 Talal Zein Award of the European Society of Hypertensionand The 2013 International Award For Publication Excellence in The Journal of Clinical Endocrinology and Metabolism.

Job Titles:

• Dept. of Internal Medicine, Section of Endocrinology ( 471 ) Radboud University

Positions: Clinical endocrinologist and steering committee member of the European Network for the Study of Adrenal Tumors www.ensat.org and the international Pheochromocytoma and Paraganglioma Research Support Organization www.pressor.org Principal clinical and scientific focus: adrenal diseases, in particular pheochromocytoma and paraganglioma Tasks within ENSAT-HT consortium: Participation in WP3 (metabolomic profiling by nuclear magnetic resonance spectroscopy) and WP5 (clinical trial). Info

Tasks in the project: Jacopo Burrello is participant from the UNITO group involved in WP4-5.

Job Titles:

• Fellow of Academy of Medical Sciences

John Connell is Vice Principal and Professor of Endocrinology at the University of Dundee and the Chair of NHS Tayside. He trained in Medicine at the University of Glasgow (graduating with commendation in 1977) and his early clinical experience was gained in the West of Scotland. He has had a long-standing interest in the regulation of adrenal corticosteroids (Aldosterone and Cortisol) and in the role of these hormones in cardiovascular disease. In particular, his work focuses on the genes that control the late stages of synthesis of aldosterone and cortisol and how variation in these genes might predispose to cardiovascular risk. Before taking up his present role, John was Dean of the School of Medicine at the University of Dundee (2009-2012) and Head of the College of Medicine, Dentistry and Nursing, as well as Vice Principal for Research (2012-2015). During this period, he led the Medical School through a restructuring programme and a major refurbishment, to sustain its reputation among the very highest Medical Schools in the United Kingdom for the quality of its teaching, reputation of its clinical training and translational clinical science. He initiated the development of an Academic Health Sciences Partnership between the College of Medicine, Dentistry and Nursing and the NHS in Tayside that is designed to drive innovation in undergraduate and postgraduate education and training; quality improvement in healthcare and translational research. This partnership is now leading a strong portfolio of research, innovation and educational programmes. John Connell is a Fellow of Academy of Medical Sciences, and a Fellow of the Royal Society of Edinburgh. He sits on the Finance Committee of the Academy of Medical Sciences; is Fellowship Secretary of the Royal Society of Edinburgh; Chair of the General Medical Council Education and Training Advisory Board; Chair of the Editorial Board of Clinical Endocrinology; Chair of Tenovus Tayside; and is the Vice Chair of the British Heart Foundation Programmes and Chairs Committee.

Job Titles:

• Dept. of Internal Medicine, Section of Vascular Medicine and Endocrinology ( 481 ) Radboud University

Positions: 9 years experience in Clinical trials as CRA, Senior Study Nurse and Research Coordinator, within Radboud University Medical Centre as well as the pharmacy. Conducting and coordinating clinical trials according to ICH-GCP guidelines and (European) laws and regulations. Phase I, II, II and IV in different areas: geriatrics, HIV, Food supplements, hypertension, MS, surgery, oncology, malaria, drug eluting stents, allergology and cannabinoids. Tasks within ENSAT-HT consortium: coordinating role for Radboud University Medical Centre for WP3, WP4 and WP5. Info

Job Titles:

• Project Manager ( INSERM - Transfert )

Kristina Fiedler joined Inserm-Transfert in 2011 at the Department of European Affairs and has now more than 4 years of experience in the management and coordination of FP7 and H2020 funded research and CSA ( Coordination and support) projects. She holds a Master degree in European Studies with a specialty in Management of European funded projects from the University of Cergy-Pontoise in France (2011) as well as a German Master degree in Social Sciences (Diplom-Sozialwirtin) from the University of Göttingen in Germany (2006). Prior to her activity at INSERM-Transfert she has worked for 4 years as a customer care officer in small French SME in the e-commerce sector in Paris. Kristina is fluent in German, French and English and has solid basics in Spanish and Italian.

Job Titles:

• Director of the Medizinische Klinik

Martin Heinrich Reincke is the director of the Medizinische Klinik and Poliklinik IV, Ludwig-Maximilians University in Munich and Chair of the Department of Endocrinology and Diabetology. The Medizinische Klinik IV is part of Ludwig-Maximilians University, the leading institution in German academic medicine. His research specialities include adrenal physiology and pathophysiology, endocrine hypertension, pituitary disease, mineralocorticoid and glucocorticoid action and stress research. Professor Reincke is heading a research team specifically exploring the prevalence and relevance of mineralocorticoid excess in resistant hypertension on the epidemiological, clinical, genetic and molecular level. The research teams of his clinic have particular expertise in assay development and validation for endocrine disease, development of genetically manipulated animals as models for human adrenal disease. Professor Reincke is a member of many national and international societies, including the Endocrine Society, European Society of Endocrinology and European Network of the study of adrenal tumors. He has served in the Executive Board of the German Endocrine Society and European Society of Endocrinology, is on the editorial board of several international journals, and has served as teaching dean of the faculty from 2006-2012. Currently, he is president of the German Endocrine Society (2014-2017). He has published more than 290 Medline listed publications cited >6000 times, his h-index is 46.

Job Titles:

• Associate Professor

Tasks in the project: Paolo Mulatero is with Tracy A. Williams the UNITO group leader involved in WP2 and WP4-6. Paolo Mulatero, MD, is associate professor of internal medicine at the University of Torino, Italy; is also European specialist in clinical hypertension, member of the Endocrine Society and of the European Society of Hypertension, expert in diagnosis and therapy of secondary forms of hypertension and in particular of primary aldosteronism, PI in clinical trials and genetic studies on hypertensive patients. HI 35, IF 700, i-10 index 86, total citations 5071.

Job Titles:

• Director of EResearch at the University of Melbourne
• Director, EResearch

Professor Richard O. Sinnott is the Director of eResearch at the University of Melbourne and Chair of Applied Computing Systems. In these roles he is responsible for all aspects of eResearch (research-oriented IT development) at the University. He has been lead software engineer/architect on an extensive portfolio of national and international projects, with specific focus on those research domains requiring finer-grained access control (security). Within ENSAT-HT Richard is the technical lead for WP1 and providing the underlying data systems and security-oriented IT infrastructure. This leverages the existing ENSAT-CANCER systems developed by Richard's team (now used globally by - at present - 76 cancer centres). Richard was formerly the Technical Director of the UK National e-Science Centre; Director of e-Science at the University of Glasgow; Deputy Director (Technical) for the Bioinformatics Research Centre also at the University of Glasgow, and for a while the Technical Director of the National Centre for e-Social Science. He has a PhD in Computing Science; an MSc in Software Engineering and a BSc in Theoretical Physics. He has over 250 peer-reviewed publications across a range of computing and application-specific domains. Kanwal, A. Lonie, R.O. Sinnott, C. Anderson, Challenges of Large-scale Biomedical Workflows on the Cloud - A Case Study on the Need for Reproducibility of Results, 28 th IEEE International Conference on Computer Based Medical Systems, Sao Paolo, Brazil, June 2015.

Silvia Monticone earned her MD in 2007 from University of Torino (Italy) and in 2013 she completed a residency in Internal Medicine at the same university. In 2011, she spent one year as research fellow at Georgia Health Sciences University in the Department of Physiology, where she started a successful collaboration with the laboratory directed by Prof. WE Rainey. She is currently research scientist in Internal Medicine at the University of Torino, Italy; she is also member of the Italian Society of Hypertension since 2008 and in 2012 she won the Italian Hypertension Society fellowship. Main publications: - Monticone S, Satoh F, Giacchetti G, Viola A, Morimoto R, Kudo M, Iwakura Y, Ono Y, Turchi F, Paci E, Veglio F, Boscaro M, Rainey W, Ito S, Mulatero P. Effect of adrenocorticotropic hormone stimulation during adrenal vein sampling in primary aldosteronism. Hypertension. 2012;59:840-6. - Monticone S, Hattangady NG, Nishimoto K, Mantero F, Rubin B, Cicala MV, Pezzani R, Auchus RJ, Ghayee HK, Shibata H, Kurihara I, Williams TA, Giri JG, Bollag RJ, Edwards MA, Isales CM, Rainey WE. Effect of KCNJ5 mutations on gene expression in aldosterone-producing adenomas and adrenocortical cells. J Clin Endocrinol Metab. 2012;97:E1567-72. - Monticone S, Hattangady NG, Penton D, Isales CM, Edwards MA, Williams TA, Sterner C, Warth R, Mulatero P, Rainey WE. A Novel Y152C KCNJ5 Mutation Responsible for Familial Hyperaldosteronism Type III. J Clin Endocrinol Metab. 2013;98:E1861-5. - Monticone S, Satoh F, Viola A, Fischer E, Vonend O, Bernini G, Lucatello B, Quinkler M, Ronconi V, Morimoto R, Kudo M, Degenhart C, Gao X, Carrara D, Willenberg HS, Rossato D, Mengozzi G, Riester A, Paci E, Iwakura Y, Burrello J, Maccario M, Giacchetti G, Veglio F, Ito S, Reincke M, Mulatero P. Aldosterone Suppression on Contralateral Adrenal During Adrenal Vein Sampling does not Predict Blood Pressure Response After Adrenalectomy. J Clin Endocrinol Metab. 2014;99: 4158-66. - Monticone S, Viola A, Rossato D, Veglio F, Reincke M, Gomez-Sanchez C, Mulatero P. Adrenal vein sampling in primary aldosteronism: towards a standardised protocol. Lancet Diabetes Endocrinol. 2015;3:296-303. Full list of publications is available at the link http://www.ncbi.nlm.nih.gov/pubmed/?term=monticone+s Info

Job Titles:

• Research Scientist at the Division of Internal Medicine

Tasks in the project: Tracy Ann Williams is with Paolo Mulatero the UNITO group leader involved in WP2 and WP4-6. Dr. Tracy Ann Williams is a research scientist at the Division of Internal Medicine and Hypertension, Department of Medical Sciences, University of Turin, Italy. She obtained her PhD degree in Biochemistry and Molecular Biology, University of Leeds, UK and was awarded a Royal Society of Great Britain fellowship for her post-doctoral studies at the Collège de France, Paris, France. Dr. Williams subsequently moved to the University of Turin, Italy obtaining an EMBO long-term fellowship and a Marie-Curie research training grant before obtaining her current position. Her research focuses on the underlying biology of primary aldosteronism. In particular, the identification of factors or elucidation of mechanisms that trigger and sustain the aldosterone excess in this disorder.

Wiebke Arlt undertook her under- and postgraduate training in Medicine and Endocrinology at the Universities of Cologne and Würzburg, Germany. This was followed by postdoctoral training at the University of California at San Francisco, funded by the German Research Council (DFG). After her return to Germany she joined the University of Birmingham in 2002, funded by a DFG Heisenberg Senior Fellowship. In 2004 she was awarded an MRC Senior Clinical Fellowship, followed by a personal chair in 2006 and the William Withering Chair of Medicine in 2014. Her research has unraveled the genetic and functional basis of several monogenic disorders affecting androgen synthesis and metabolism.She leads a multi-disciplinary research comprising clinician scientists, molecular biologists, biochemists and computer scientist, focussing on the exploration of the steroid metabolome and its impact on human disease. Wiebke has led the Centre for Endocrinology, Diabetes and Metabolism (CEDAM) since its creation in 2008 and now serves as the founding Director of the Institute of Metabolism and Systems Research (IMSR) at Birmingham. Her multiple national and international awards include the Society for Endocrinology UK Medal (2009) and Clinical Endocrinology Trust Lecture (2015), the EJE Prize (2009) and Clinical Endocrinology Trust Medal (2015) of the European Society of Endocrinology, and the Ernst Oppenheimer Award 2010 of the Endocrine Society USA.