Scientific Advisory Board
The Alpha-1 Europe Alliance Scientific Advisory Board is composed of leading, internationally recognised European clinicians with expertise in Alpha-1 Antitrypsin Deficiency (AATD) and related respiratory, hepatic, and genetic conditions. The Board’s main purpose is to provide independent medical and scientific guidance to the Alliance, supporting informed decision-making and strengthening the patient voice in scientific, clinical, and advocacy settings.
Members
The Board includes leading specialists from seven European countries in lung, liver, and skin research:
Scientific Advisory Board Members
Poland
Belgium
Italy
Germany
Germany
United Kingdom
Germany
Spain
Belgium
Poland
Belgium
Italy
Germany
Germany
United Kingdom
Germany
Spain
Belgium
Prof Joanna Chorostowska‑Wynimko is a pulmonologist and clinical scientist at the National Institute of Tuberculosis and Lung Diseases (NITLD) in Warsaw, where she serves as the consultant as well as the Head of the Department of Genetics and Clinical Immunology. Her work focuses on AATD, COPD, and pulmonary immunology, with contributions spanning molecular diagnostics, biomarker development, and population‑level screening strategies. She currently serves as President of the ERS and holds key roles within ERN‑LUNG and EARCO, where she supports harmonised diagnostic standards and cross‑border research. Prof. Chorostowska‑Wynimko has an extensive publication record in respiratory medicine and plays a central role in advancing AATD awareness, early detection, and evidence‑based clinical pathways across Europe.
Prof Dr Stephanie Everaerts is a pulmonologist at UZ Leuven and faculty member in the BREATHE Division at KU Leuven, where she specialises in COPD, emphysema, severe asthma, and advanced respiratory interventions. She leads translational work on Alpha‑1 Antitrypsin Deficiency (AATD), including a major research programme integrating imaging, omics, and organoid modelling. Her alpha-1 clinic takes part in EARCO registry, several commercial studies and is part of the ERN-lung Core network for alpha-1. Prof. Everaerts is an active clinical researcher with a publication record in leading respiratory journals, contributing to studies on COPD phenotyping, small‑airway pathology, and bronchioscopic lung‑volume reduction.
Prof. Ilaria Ferrarotti is a leading expert in AATD at the Fondazione IRCCS Policlinico San Matteo in Pavia, where she is affiliates within the Laboratory of Molecular Pulmonology and the Center for Diagnosis of Inherited AATD. She holds a central role within the national AATD framework in Italy, serving as clinical expert and registry contact for both the Italian AATD Registry (RIDA1) and the EARCO Registry, and she leads the AATD Core Network of ERN‑LUNG. Her research activity in AATD encompasses epidemiological studies, the development and application of advanced diagnostic methodologies, the identification of rare alpha-1 antitrypsin (AAT) mutations and the assessment of their clinical significance, as well as investigations into the natural history of severe and intermediate AATD through the analysis of national registry data. Dr Ferrarotti’s clinical and scientific leadership has contributed to establishing Pavia as a leading European reference centre for AATD diagnostics, phenotype characterization, and registry‑based research.
Prof Dr Sabina Janciauskiene is a pharmacologist and translational scientist with over three decades of research experience in AAT biology and inflammatory diseases. Her research focuses on molecular mechanisms of protease–antiprotease imbalance and their clinical relevance in COPD and alpha-1 antitrypsin deficiency. A central aspect of her work is the characterization of molecular forms of AAT, including oxidized, cleaved, and aggregated variants, as well as AAT-derived peptides as potential biomarkers of disease activity, progression, and therapeutic response. She is a member of the European Respiratory Society, the German Respiratory Society, and the European Alpha-1 Research Collaboration (EARCO), and serves as a scientific advisor to the German Alpha-1 patient organization.
Dr. David Katzer is a pediatric gastroenterologist and pediatric hepatologist at the University Hospital Bonn, with a clinical and research focus on liver and gastrointestinal diseases in children, including rare genetic conditions. He plays a leading role in developing and maintaining the register of children and adolescents with AATD, the Alpha‑1‑KIDS Register.
Dr Beatriz Martínez‑Delgado is a geneticist and researcher at the Instituto de Salud Carlos III in Madrid, where she specialises in the molecular diagnosis and genetic characterisation of rare diseases, including AATD. Her work integrates advanced genomic technologies with clinical interpretation, contributing to improved diagnostic pathways and phenotype–genotype correlation in hereditary conditions. Dr Martínez‑Delgado has authored numerous peer‑reviewed publications in human genetics and rare‑disease research, with a portfolio spanning inherited respiratory disorders, covering functional impact of genetic variants, gene regulation, molecular mechanisms and pathophysiology, development of cellular models, and genomic biomarkers. She is member of the REDAAT, Spanish Network for AATD research, and collaborates with the patient’s association Alfa-1 España. She is an active participant in national and European research networks focused on rare diseases, supporting collaborative efforts to strengthen early detection and personalised care for patients with AATD and related genetic conditions.
Prof David Parr is a Consultant Respiratory Physician at University Hospitals Coventry and Warwickshire (UHCW) NHS Trust. His clinical expertise covers the full spectrum of adult respiratory medicine, and he runs specialty clinics in AATD, complex airways diseases, interstitial lung disease, pulmonary vascular disease, lung cancer and chronic cough. His research portfolio is in clinical outcomes and clinical phenotyping. He has worked as an external consultant for industry-partners for more than 20 years and is a medicolegal expert witness. Professor Parr is a member of the European Respiratory Society, the British Thoracic Society, the International Society for Pharmacoeconomics and Outcomes Research (ISPOR) and EARCO, where he is currently a member of the Steering Committee.
Prof Pavel Strnad is a chair of the gastroenterology/hepatology clinic at Medical University of Lausitz, Cottbus, Germany, specialising in hepatology and the molecular mechanisms of chronic liver disease. His research focuses on AATD and its hepatic manifestations, combining clinical cohorts with translational models to study disease progression and therapeutic targets. He heads the European AATD Liver Registry. Prof. Strnad´s scope covers AATD‑related liver disease, liver fibrosis, metabolic liver disease, and proteotoxic stress responses.
Dr María Torres Durán is a pulmonologist at Álvaro Cunqueiro University Hospital in Vigo, Spain, and a member of the NeumoVigo I+i Research Group at the Galicia Sur Health Research Institute. She is responsible for the hospital’s AATD clinic and coordinates its AATD Centre of Excellence. Her clinical and research work focuses on AATD and lung cancer. She has been a member of the Spanish AATD Network, REDAAT, since 2004, is an active contributor to the scientific literature, and regularly participates in research projects with REDAAT and EARCO. Her most recent work includes a contributing to the Decalogue of Best Practices in Alpha-1 Antitrypsin Deficiency and the 2026 update of the Spanish Guidelines for the Diagnosis and Treatment of AATD, presented at the SEPAR Congress in June 2026. In addition to her research contributions, she plays a key role in improving diagnosis, clinical pathways, specialised care for people with AATD, and training for patients and healthcare professionals in the region.
Prof Jef Verbeek is a hepatologist at UZ Leuven and the Hepatology Research Unit KU Leuven. He coordinates the Expert Centre for Rare Liver Diseases at UZ Leuven, specializing in diagnosis, management, and research of conditions like alpha-1-antitrypsin deficiency, polycystic liver disease and immune-mediated liver diseases. He is the medical coordinator of the Leuven Liver Transplant program, serves as Secretary of the Belgian Transplantation Society, actively contributes to ERN Rare Liver initiatives where is the co-lead of the PBC working group.