There is just one week until Rare Disease Day, Monday 28 February. An incredibly special day in the Congenica calendar as the cause is so close to so much of our work - a desire to improve the lives of people living with rare and inherited diseases is central to everything we do at Congenica.
To help raise awareness and generate change for the 300 million people worldwide living with a rare disease, their families and carers, we have pulled together stories from around the world to highlight what rare disease means to just some of the people affected. These will be shared every day in the run up to, and on, Rare Disease Day.
The first of our Rare Disease Day stories looks at our Opening the Black Box series and the introduction of Chapter 9. In these films, Philip Beales, Professor of Medical and Molecular Genetics at UCL and CMO at Congenica, Professor Sarah Weckhuysen, Neurologist, VIB Center for Molecular Neurology, University of Antwerp and Professor Jozef Gocz, University of Adelaide, Chair of the International Cerebral Palsy Genomics Consortium (ICPGC), discuss the future of precision medicine and answer commonly asked questions.
Opening the Black Box is an initiative launched by Congenica’s Patient and Advocacy team earlier this year. In it we highlighted the journey of Karen Lettington and her son George as they are enrolled in the 100,000 Genomes Project, searching for answers to George’s significant healthcare challenges.
The films, from Chapters 1 – 8, show the patient journey from the very first signs of a healthcare challenge to subsequent medical appointments, blood samples taken to Illumina’s sequencing lab, then on to Congenica for analysis and interpretation before going back to the medical team for discussion with the patient.
The addition of Chapter 9 provides a valuable insight into the future of precision medicine from leading authorities on this topic, who answer the questions that people on this journey want to know. Hear from industry thoughts leaders on their hopes for the future of precision medicine.
