How gene therapy and genomics are changing the game for rare diseases. A video discussion with experts from the Charles River World Congress meeting.

A rare disease is one that strikes fewer than 200,000 Americans, sometimes only a few dozen. But the universe of rare diseases is enormous—in the US alone between 25 and 35 million people are estimated to be afflicted with a rare disease or disorder that is usually untreatable and often fatal. Patients are desperate for solutions and under previous drug development models it was hard, if not impossible, to get anyone to listen. But unique collaborations among partners that typically have not worked together are helping to accelerate the successful rare disease drug discovery process. There is an increasing shift towards true partnership with scientifically sound and innovative organizations.

This work is being aided by an explosion in new technologies, including massively parallel sequencing, often referred to as next-gen sequencing that has given us unprecedented detail about the genes that drive these rare diseases.

Two leading forces in the study of rare diseases are the Rare Genomics Institute, which helps patients gain access to world-class genomic sequencing and interpretation service provided by a network of researchers around the globe, and Sanford Research, which supports a lab focused on understanding the molecular basis of several inherited pediatric neurodegenerative diseases including the infantile, late infantile and juvenile onset forms of Batten disease.

Jill Weimer PhD, a pediatrics professor at Sanford School of Medicine who studies neuropediatric diseases, including Batten, and Jimmy Lin, founder and president of the Rare Genomics Institute, presented talks last week at the Charles River World Congress on Drug Discovery and Development also sat down for a video discussion about rare disease. Moderating the discussion was Anjli Venkateswaran, PhD, Sr. Product Manager at Charles River’s Global Discovery Services. Here is an edited version of the conversation.

Here is a link to other posts form Eureka’s ongoing coverage of the World Congress meeting.