Speakers

Milan Macek Jr, MD, DSc

Dr Macek Jr is the chairman of the largest academic medical/molecular genetics institution in the Czech Republic, which comprises a research/diagnostics reproductive genetics center. He was a president of the European Society of Human Genetics (ESHG), board member of the European Society for Human Reproduction and Embryology (ESHRE), and board member of the European Cystic Fibrosis Society (ECFS). His institute is a “clearing center” for dissemination of knowledge in genetics gathered within various international European projects, such as CF Thematic Network, EuroGentest, EuroCareCF, Techgene, RD-Connect and Solve-RD to Central and Eastern Europe in the fields of rare disease genomics and reproductive genetics. His department is the de facto national training center for Illumina next-generation sequencing–based technologies. Dr Macek Jr did his first postdoctoral research at the Institute of Human Genetics in Berlin, and continued as a postdoctoral fellow at the McKusick-Nathans Institute of Genetic Medicine, and Johns Hopkins University in Baltimore. During that time, he was also a fellow at Harvard School of Medicine in Boston. He was the local host of the 1995 HUGO Mutation Detection Course in Brno, ESHG 2005, the 2005 ESHRE Reproductive Genetics/PGD Course, and ECFS 2008, all held in Prague. Dr Macek Jr is the national coordinator of Orphanet, an active member of EuroGentest 1–2, and the former chief advisor of the Czech EU Council Presidency under which the “EU Council recommendation on an action in the field of rare diseases” was adopted in June 2009. He is the acting president of the Czech Society of Medical Genetics, a past member of the European Union Committee of Experts on Rare Diseases (EUCERD) and current member of the EU - European Board of Member States on Rare Diseases, and a past member of the International Rare Disease Consortium (IRDiRC) Diagnostic Committee. Dr Macek Jr has led the interdisciplinary working group of ESHG and ESHRE, which published guidelines of reproductive genetics in 2013, 2014 and in 2018, with a bearing on cystic fibrosis diagnostics.

Dr. Clancy

Dr. Clancy is the Senior Director of Clinical Research for the Cystic Fibrosis Foundation, and also a Professor of Pediatric Pulmonary Medicine at Cincinnati Children’s Hospital Medical Center. His CFF role is to oversee clinical research conducted by the CFF TDN and investigators from academic institutions internationally. He also is deeply involved in the education and training of physician-scientists and career development in CF. His own research program focuses on airway epithelial biology, pulmonary imaging, and new outcome measures for clinical and translational research.  He utilizes these themes to provide research training platforms to future physician-scientists, focusing on translational research across model systems to human subjects.  This is accomplished through the design and execution of studies in cell-based model systems, patient-derived tissues and specimens, and human subjects.  Dr. Clancy have been the primary or co-mentor of >20 fellows, graduate students and junior faculty.  He has over 250 peer reviewed publications, and regularly provides leadership in clinical and translational research through the international CF research community.

Doctor André Schultz

Doctor André Schultz is a paediatric respiratory physician and Director of Cystic Fibrosis at Perth Children’s Hospital which provides comprehensive, multidisciplinary care for all children and young people with cystic fibrosis in Western Australia. André is also a NHMRC TRIP Fellow at the Telethon Kids Institute.  He has received research funding in excess of AU$10 million since 2014 and has over 45 peer reviewed publications spanning airway surface physiology to implementation science. He is the clinical lead for the emerging BEAT CF adaptive platform trial. His other interests include optimizing lung health in Aboriginal children, biomarkers in lung disease, cell culture based disease models and mental health in cystic fibrosis. He is a committed advocate for children and families affected by rare lung disease. He is the co-founder and Chair of the multinational chILDRANZ Peer Support Team, a member of the Lung Foundation’s Young Lungs Executive Advisory Committee that raise awareness and increase support for children with rare lung diseases, and a member of the Steering Committee of the Australian Cystic Fibrosis Data Registry.

Pam Laird

Pamela Laird is a senior paediatric respiratory physiotherapist at Perth Children’s Hospital for in- and out-patients from intensive care to chronic disease management in children aged 0-18 years, including Hospital in the home service provision.   Pam has over 25 years clinical experience with expertise and special interest in chronic lung disease, particularly cystic fibrosis (CF) and non-CF bronchiectasis in Aboriginal children, both in Australia and the USA and lectures Physiotherapy students at Notre Dame University.  Pam previously investigated the safety and clinical accuracy of sputum induction for obtaining microbial samples from the lungs in young children with CF. Her current doctoral studies have focussed on changing trajectories for lung health of Aboriginal children through 1. Implementation of solutions to identified barriers and enablers for families and clinicians to recognise and manage chronic wet cough 2. Determining prevalence of chronic wet cough and protracted bacterial bronchitis in young Aboriginal children. As a direct result of her doctoral studies, she is now leading a project to facilitate improved follow-up of Aboriginal children hospitalised with chest infections and co-leading a multi-centre Australia-wide implementation project to prevent lung damage in Aboriginal children with chronic wet cough.