Alpha-1 antitrypsin deficiency Patient Conference 2024

Marc Miravitlles, MD, FERS, is a senior researcher and a consultant in the Pneumology Department at the Vall d’Hebron University Hospital and the Vall d’Hebron Research Institute in Barcelona, Spain. He has served as chair of the Respiratory Infections Group of the European Respiratory Society (ERS) and guidelines director of the ERS. He has also acted as a consultant for the development of international guidelines of chronic obstructive pulmonary disease (COPD), including the American Thoracic Society (ATS)/ERS guidelines on exacerbations of COPD and the ERS statement on the management of respiratory disease in alpha-1 antitrypsin deficiency. He is currently a consultant to the Spanish Ministry of Health for the development of the National Strategy Against COPD. In addition, he has served as the coordinator of the Spanish National Guidelines for COPD since 2011. Dr Miravitlles is the author or coauthor of more than 600 peer-reviewed publications in the fields of COPD and alpha-1 antitrypsin deficiency.

Pavel Strnad is a full professor and leading physician at the University Hospital Aachen, Germany. Since 2008, he is heading his own research lab focusing on translational gastroenterology. In 2016, he was named one of the Rising Stars of the United European Gastroenterology. He is heading the European initiative for study of alpha1-antitrypsin deficiency-associated liver disease and is global PI on several AATD-related clinical trials. His interest include (but are not limited to) metabolic and rare liver disease, liver cirrhosis and complications. His clinical focus is on emerging drugs, end-stage liver disease and liver transplantation

Alice graduated from the University of Leicester and has done postgraduate training via the Universities of Dundee and Birmingham, and Ashridge-Hult business school, completing a PhD focussed on COPD and alpha 1 antitrypsin deficiency (AATD) and postgraduate qualifications in medical education, leadership and quality improvement (QI). She is a professor in respiratory medicine at University of Birmingham and works as a consultant in respiratory medicine. She has published widely in COPD and AATD, and has ongoing research projects, mainly clinical trials and observational clinical studies, in AATD and COPD funded by the NIHR and others. She was on NIHR research prioritisation and NICE health technology appraisal committees until recently.

Marion Wilkens worked as a chemical engineer for many years before she was diagnosed with alpha-1-antitrypsin deficiency. Her two children are both carriers of the disease. Looking for information about the disease, she and her husband came across the patient organisation Alpha1 Deutschland, information from which reassured them. As a member of the board since 2013, Marion became president of Alpha1 Deutschland in 2015.

Currently with more than 1000 members, Alpha1 Deutschland e.V., established in 2001, is the largest alpha-1 patient organisation in Europe. The organisation stands for the old and proven as well as for innovation and new directions. As a member of the Alliance for Chronic Rare Diseases (ACHSE), it collaborates closely with other patient organisations both in Germany and internationally.

Paul Kobler is a psychologist and psychotherapist currently working in an outpatient practice and in the inpatient integrated clinical care of lung patients with mental comorbidities. He has worked in departments including the Department of Psychosomatic Medicine and Psychotherapy and the Department of Respiratory Medicine in Nuremberg General Hospital. Since 2018, he had also been responsible for the treatment of people living with mental health conditions in the Departments of Respiratory Medicine and Gastroenterology.

Karen O'Hara has been a dedicated advocate and leader in the alpha-1 antitrypsin deficiency (AATD) community since her diagnosis in 2005. Karen is the current Chair of Alpha-1 UK, a national patient charity and advocacy group, and Secretary of the Alpha-1 European Alliance, the collective voice of AATD patient organisations across Europe.

She has adopted an active role in patient advocacy, both nationally in the UK and internationally and is a regular speaker at national and international conferences. Throughout her involvement she has played a pivotal role, engaging with all stakeholders including policy makers, health technology appraisal bodies, expert clinicians and the wider alpha-1 and rare disease patient communities on a national and global level focused on raising awareness, improving access to services and treatment for AATD patients.

Christian is a senior consultant of pulmonary medicine at the University Hospital of Zurich. He is also the head of the specialized outpatient clinic for patients with interstitial and rare lung diseases including alpha-1 antitrypsin deficiency (AATD) and also organises the interdisciplinary board for rare lung diseases in Zurich. In addition to this, he is a member of the network for interstitial lung diseases of the Swiss Society for Pulmonary Medicine and co-investigator of the Swiss Idiopathic Interstitial Pneumonia Cohort Study. Christian is Co-Chair of the European alpha-1 research organisation and medical advisor for the Swiss AATD patients network

Fernanda was diagnosed with alpha-1 antitrypsin deficiency in December 2019 at age 47. Shortly after her diagnosis, she met Frank Willersinn, president of Alpha-1 Plus in Belgium, and started to work with him as a volunteer. In May 2020, Fernanda also joined the Board of RaDiOrg, Rare Diseases Belgium and has since then advocated to improve the lives of people living with rare diseases, particularly those living with alpha-1.

Fernanda is Spanish and has lived in Belgium for 25 years with her husband, son, and daughter. She works in the financial sector. When she is not working, Fernanda enjoys spending time with her family and friends. She likes cooking, reading and her new hobby, cycling. In 2022, Fernanda joined an initiative called Climbing For Life as a COPD representative, and together with other 7 people who live with lung diseases, they climbed by bike the Sella Ronda in the Dolomite (Italy), taking the opportunity to create awareness around alpha-1 and COPD

Dr Timm Greulich is a senior doctor at the University Hospital Giessen and Marburg for Internal Medicine and Respiratory Diseases. After graduating with a medical degree, Dr Greulich completed his MD at Phillips-University Marburg, before receiving his PhD from the University of Marburg in 2017.

Dr Greulich began his career in emergency medicine before specialising in lung medicine and sleep. In 2009, Dr Greulich began to lead the alpha-1 antitrypsin deficiency (AATD) laboratory at the Phillips-University of Marburg. Then in 2020, he took over an outpatient private practice focusing on lung health.

Dr Greulich is an active member of the Writing Committee for the National Guidelines for Asthma and has published 80 articles in peer-reviewed journals. His research interests include AATD, chronic obstructive pulmonary disease (COPD) and asthma.

After living with chronic conditions that include severe asthma, Nicole retrained to work with others affected with chronic conditions after having a career in finance. Nicole was keen to understand how she could better manage her condition and so enrolled as a mature student at university.

After achieving a First-Class degree in Health and Exercise Referral, Nicole gained a Master's Degree in Long Term and Chronic Condition Management, with Merit, at Swansea University. From this, Nicole gained an insight into the hurdles that people with one or more chronic conditions face.

Elena is a wife and mother of three children with alpha-1 antitrypsin deficiency (AATD). Shortly after her family's diagnosis, she reached out to the Spanish Alpha-1 Patient Association for information and support. Elena has been a member of the association since 2008 and joined the Board of Directors in 2010. From 2018, Elena has served as Vice President of the association and is responsible for international relations. Professionally, she works as a communications consultant.

Her personal experience as the wife and mother of AATD patients has encouraged her to contribute to the association in several areas, including coordinating the support group for parents of affected children and guiding newly diagnosed patients. She has also been involved in numerous projects aimed at raising awareness of AATD in Spain, improving patients’ quality of life, ensuring access to available treatments, and strengthening the personal connections between people living with AATD.

David Parr is a Consultant Respiratory Physician at University Hospital Coventry and Honorary Professor of Respiratory Medicine at the University of Warwick. He has been an active researcher in alpha1-antitrypsin deficiency for over 20 years with a particular interest in how to assess accurately the various types of alpha-1 lung disease and the variability in the way that they can progress over time. This work has been contributory to the validation of CT lung densitometry as the optimum outcome measure for drug trials.

David was a member of ‘AIR’ and is now a member of the Steering Committee of ‘EARCO’. He is a full-time NHS consultant with a broad and varied clinic practice, which includes specialist clinics for complex airways diseases, interstitial lung diseases, pulmonary vascular disease, chronic cough and lung cancer. He established and leads the Coventry multi-disciplinary alpha1-antitrypsin deficiency service, which has an emphasis on providing ‘alphas’ a service that is clinically focussed and is delivered solely by expert consultants. He is a staunch patient advocate and has been a key participant in the procedures required for the provision of augmentation therapy in the UK, and in the lobbying of the UK Parliament to raise the issues faced by UK patients.