Webinar: Genetic Diagnosis & Clinical Trials скачать в хорошем качестве

Webinar: Genetic Diagnosis & Clinical Trials

What is the importance of a genetic diagnosis, and why is it beneficial for clinical trials? During this webinar, our presenters address this question and cover: the practical aspects of genetic testing the Garvan Institute's Rare Disease Registry, and the new clinical trial PYC-003 OUR PRESENTERS Dr Aron Chakera. Dr Aron is an adult nephrologist and clinician scientist working at Sir Charles Gairdner Hospital in Western Australia. His clinical interests include genetic kidneys diseases, autoimmunity, and transplantation. He leads the Translational Renal Research Group in the Harry Perkins Institute of Medical Research with research interests spanning the spectrum from discovery science through to chronic kidney disease epidemiology. Jonathan Nguyen. Jono is the Program Manager for the Genomics and Inherited Disease Program at the Garvan Institute where he drives the programs success through strategic development, ethics and governance submissions, stakeholder communications, laboratory management, and the implementation of the program’s flagship initiative, the Genomics and Rare Disease Registry. Jono holds a Master’s degree in Orthoptics and his expertise in ophthalmology led him into the field of clinical trials. He is passionate about advancing Genomic and Ophthalmic research, and enhancing the Australian healthcare system. Ella West. Ella is a genetic counsellor who works across both clinical and research settings. She is part of the RPA Hospital Genetic Service, where she regularly sees PKD patients in the RPA Renal Genetics Clinic. Ella also works as a research genetic counsellor in Dr Amali Mallawaarachchi’s lab at the Garvan Institute, focusing on understanding the molecular basis of PKD. THE PYC-003 TRIAL For further details please contact [email protected] or visit pkdstudy.org CHAPTERS: 00:00 Welcome 00:24 Genetic Testing and Counselling 11:13 The Genomics of Rare Disease Registry 22:14 PKD: From genes to therapies 34:51 The PYC-003 Clinical Trial 40:00 Q&A