Perkins Community Q&A: Genetic Roulette and Your Family скачать в хорошем качестве

Perkins Community Q&A: Genetic Roulette and Your Family

Genetic Roulette and Your Family: Mackenzie’s Mission and the roadmap for a national carrier screening program. Mackenzie’s Mission was established with a $20 million grant from the Federal Government, following lobbying from Rachael and Jonathan Casella, whose daughter Mackenzie died of spinal muscular atrophy (SMA) – a severe inherited neuromuscular condition without a cure. Despite undergoing all the recommended preparations and testing prior to Mackenzie’s birth, Rachael and Jonathan were not aware they are carriers of SMA. Emeritus Professor Nigel Laing AO, co-lead investigator of Mackenzie’s Mission, shares the findings from this remarkable world-first research, recently published in the prestigious New England Journal of Medicine. Nigel has dedicated his career to finding genetic causes of rare diseases and championing the importance of preventive genetic screening for all couples, regardless of their cultural or socio-economic background. Nigel was joined on the panel by Perth GP and UWA Clinical Senior Lecturer of General Practice, Associate Professor Lucy Gilkes, and Genetic Counsellor and WA Project Manager of Mackenzie’s Mission, Samantha Edwards.