Trials and tribulations of drug development

What does it take to establish new treatments for rare diseases?

One in seventeen people lives with a rare disease, meaning collectively they are common, if individually rare. Commitments to improving the lives of those affected seek not only to expedite diagnosis, but also to improve access to condition-modifying treatments and clinical trials. This is not an insignificant aspiration, given there are eight thousand rare diseases. Innovations in molecular diagnosis have led to a better understanding of the underlying causes, the mechanisms involved, and the downstream consequences of disrupted pathways upon phenotypes. This also provides invaluable insights into potential strategies for new therapies.

The webinar will highlight the multiple steps required to develop new treatments for rare diseases, provide examples of illustrative clinical trial studies, explore new methodologies, such as cell-based therapies, and look towards the future for emerging opportunities to transform the lives of those affected by rare genetic disorders.

Join us on Tuesday 18^th April at 7:00 EST / 12:00 BST / 13:00 CET as experts in rare diseases and from IQVIA delve into this topic with pharmaphorum.

About the panel

Alistair Grenfell is President, Europe, Middle East, Africa and South Asia, IQVIA. Previously, he served as the company’s president, North Europe and Africa from December 2011 to April 2015. Since joining IMS Health in 1996, Alistair has held sales, client services and business management roles of increasing responsibility in Europe, the Middle East and Africa. He served from 2010 to 2011 as general manager for Belgium, Netherlands, Nordics and Baltics, and prior to that led the IMS Health sales function in EMEA for three years. Earlier, Alistair spearheaded sales activities for mid-sized countries in the region. He also managed the company’s U.K. and Ireland sales team and served in a variety of account, business development and global sales roles. Alistair holds a B.A. degree with honors in Business Economics from Anglia University and an M.Sc. in Economics and Competition Policy from Bayes Business School, London.

Dr Melita Irving trained in paediatrics before joining the clinical genetics department at Guy's and St Thomas'. She undertook a fellowship in skeletal dysplasia at the Royal Children's Hospital, Melbourne and has since established multidisciplinary paediatric clinics in skeletal dysplasia and achondroplasia at the Evelina London Children's Hospital. She is chief investigator for a number of clinical trials in achondroplasia and a proponent of embedding clinical research synergistically within clinical service.  

David H. Tegay, DO, FACMG is a senior medical director and head of the Pediatric and Rare Disease Center of Excellence (PRDCOE) at IQVIA, previously serving as chief of medical genetics and human genomics for the Northwell Health hospital system in New York. Dr Tegay is a dual boarded Clinical Genetics and Internal Medicine physician with a background in clinical research. He has long-standing experience in clinical genetic patient care, leading clinical operations for multiple programmes and centres across the spectrum of medical genetic conditions, and genetics services development and operational leadership, holding past administrative appointments at multiple tertiary care academic medical institutions. He completed a K30 physician scientist research training programme with a Visiting Professorship at Cold Spring Harbor Laboratory, focusing on optimising microarray and next-generation sequencing platforms and data interpretation. He has served as a PI, co-investigator, and/or consultant on many publicly (NIH, state, and university), and privately (industry and advocacy/support organisation) funded basic and clinical/translational research studies, including clinical trials, candidate gene discovery projects, and large population-based screening validation studies. Tegay has been recognised for clinical excellence as a Castle Connolly regional top doctor in clinical genetics for the Long Island and New York metropolitan regions for over five consecutive years while in clinical practice, and for his contributions to genetics education as a Double Helix award winner in Genetics Teaching and Education through Long Island University. He is passionate about improving the lives of individuals affected by genetic conditions through optimising patient care, advancing research and drug development, and contributing to scientific knowledge and healthcare education.  

Joanne M. Hackett is vice president and head of Genomic and Precision Medicine at IQVIA and previously was the chief commercial officer at Genomics England. Dr Hackett is a clinical academic, entrepreneur, investor, and a strategic, creative visionary with global experience spanning successful start-ups to Fortune 500 companies. Aside from her curious passion for life and positivity, Hackett is known for building innovation, driving personalised medicine, and leading through fast paced, complex, changing ecosystems and integrations. Her goal is to contribute to bringing the world novel, cost effective, and simple healthcare solutions, and she is particularly keen on building the case for prevention, open science, and citizen genomics. She has extensive global experience across academic, business, and clinical institutions, and enjoys sharing her experiences with the Boards she sits on, as well as companies she provides strategic advice to. Hackett has been publicly recognised for her relentless pursuit of revolutionising healthcare and has been named one of the top six Influential Leaders in Healthcare by CIO Look, the Accenture Life Science Leader of the year, Freshfields Top 100 Most Influential Women, One HealthTech Top 70 Women in the NHS, Pharmaceutical Market Europe’s 30 women leaders in UK healthcare, and BioBeat's Top 50 Women in Biotech Award. Hackett believes in human courage and perseverance against the odds, and demonstrates that positive change, whether in a company or in one’s personal life, can be carved out from even the greatest of trials. As a believer of ‘health = wealth’, Joanne is an internationally known yoga instructor.

Jonah Comstock, editor-in-chief at pharmaphorum (moderator), is a veteran digital health journalist. An early hire at MobiHealthNews, he most recently led editorial efforts at HIMSS Media.