Far more common than initially thought, rare disease treatments remain far too scarce. The answer to the problem, of course, lays in making medical research more effective.
A key step towards this is great collaborative working, and partnerships with the likes of the European reference networks and French healthcare network G2M are crucial to success.
Currently, only a quarter of rare diseases have had their molecular basis defined and some diseases are so rare that an average GP will only see a single case in their entire lifetime. This makes diagnosis a very difficult and often exceptionally slow process, leaving patients and their families feeling isolated and vulnerable.
However, developments in genomic medicine are making huge strides to improve this situation, and these will also be discussed during the webinar.
Our panel
Dr Jean-Meidi Alili is a senior pharmacist in charge of Medicines and Research at the French healthcare network for rare metabolic diseases (G2M), where he is notably involved in implementing a drugs observatory and two ‘one-stop-shops’ in research and pharmacy. Prior to that he was a pharmacist at the Pharmaceutical Establishment division of the Paris hospitals group AP-HP, where he was a project manager for the development of an orphan drug and a pharmaceutical contact for publicly-funded clinical studies.
Dr Jeff Keefer is VP and head of the Pediatric and Rare Disease Centers of Excellence at IQVIA. He also serves as haematology consultant to the NICU and genetics service and is co-director of the NIH/Johns Hopkins Pediatric Hematology/Oncology Fellowship Program. A board-certified paediatric haematologist/oncologist, Jeff has 12 years of academic faculty experience at the Johns Hopkins University School of Medicine. His academic and clinical focus is on benign haematology, where he has a particular interest in sickle cell disease, haemophilia and other rare blood disorders.
Dr Joanne Hackett is the head of genomic and precision medicine at IQVIA and previously was chief commercial officer at Genomics England. She is a clinical academic, entrepreneur, investor, and a strategic, creative ‘visionair’ with global experience spanning successful start-ups to Fortune 500 companies. Joanne’s goal is to contribute towards bringing the world novel, cost effective and simple health care solutions, and she is particularly keen on building the case for prevention, open science and citizen genomics.
Moderator: Dominic Tyer is interim managing editor at pharmaphorum. He has over 20 years of pharmaceutical and healthcare publishing experience and is also creative and editorial director at the company’s specialist healthcare content consultancy, pharmaphorum connect.
About IQVIA
IQVIA (NYSE:IQV) is a leading global provider of advanced analytics, technology solutions and clinical research services to the life sciences industry. IQVIA creates intelligent connections to deliver powerful insights with speed and agility — enabling customers to accelerate the clinical development and commercialization of innovative medical treatments that improve healthcare outcomes for patients. With approximately 74,000 employees, IQVIA conducts operations in more than 100 countries. Learn more at www.iqvia.com. IQVIA are partnering with MetabERN, G2M and EURODIS for this webinar.
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