Spark Therapeutics is developing a gene therapy to treat one of the most devastating genetic disease known – Huntington’s disease. A disease that robs people of their motor skills and psychological stability in the prime of their life. Recently, we talked with David Anderson, PhD of Spark Therapeutics about the genetics of this rare neurological condition.
Unlike many genetic conditions, Huntington’s disease is not due to a gene not working. Dr. Anderson said, “In this case, it’s not a lack of a gene that has occurred . It is an expansion of something that’s found in you and I. There is a something called a tripeptide repeat or a CAG repeat that sits inside of one gene called the Huntingtin gene. And if you have a limited number of CAG repeats, you’re perfectly healthy.”
Dr. Anderson continued, “The minute you move over that one order into 46 or 47 CAG repeats, you become potentially symptomatic and at that point you progress. And the more the repeats, the worse it is.”
In addition to the classic ‘chorea’ movements that often characterize the disease, people with this condition have cognitive and psychological problems. And the more repeats that’s
“Most of us think of Huntington’s and we think just about what we see the chorea. But it’s about cognition ,it’s about motor, it’s about combination and treating all of that is important.”
For more information, visit http://sparktx.com/