The future of new treatments for ultra-rare diseases | Rob Collin

Rare or ultrarare diseases are disorders that affect a relatively low number of individuals worldwide, and are often caused by errors in our DNA. Technology have made it possible to design, develop and implement personalized therapies for subjects with these diseases.

As a research scientist, Rob Collin aims to develop novel genetic therapies for individuals with severe visual impairment, often leading to complete blindness. He expects that a further advancement of the technological possibilities will increase the number of potential new therapies for rare and ultrarare diseases. Yet, the costs and regulations associated with the implementation of these therapies may hamper a rapid translation to the patient, in particular when there may only be a handful of persons that could benefit from a given treatment.

In his Ted-talk, Rob Collin discusses the current and future possibilities, as well as the challenges we may face and need to be discussed now, in order to allow seriously debilitating disease to be treated in the future, regardless of their prevalence worldwide. Rob W.J. Collin is an Associate Professor and Principal Investigator within the Radboud university medical center in Nijmegen, The Netherlands. He heads a research group that focuses on the development of genetic therapies for specific subtypes of inherited retinal dystrophy.

After his PhD study on exploring the role of proteins involved in Alzheimer’s disease (graduated in 2006), he switched gears to the field of Human Genetics. As a post-doc, he was primarily involved in the identification of several novel genetic causes of hearing impairment and (vitreo)retinal dystrophies. In 2009, when he was awarded a prestigious ‘VENI’ grant from the Netherlands Organization for Scientific Research (NWO), he initiated his own research line on genetic medicine.

He visited the lab of Jean Bennett at the University of Pennsylvania, Philadelphia, USA, for a period of 6 months in 2010, after which he continued establishing his own research group on this topic. This talk was given at a TEDx event using the TED conference format but independently organized by a local community.