Harper and Engel: Research Offers Hope for People With Fragile X, Autism
Recent scientific developments linking Fragile X Syndrome and autism have ushered in a renewed sense of hope in the disabilities community.
Just last year, researchers discovered specific connections between these genetic conditions. But to fully grasp the significance of this breakthrough, one must first understand Fragile X.
Fragile X-associated disorders are tied to a mutation on the X chromosome. The Fragile X gene produces a protein that plays a critical role in regulating other genetic activity. This process is interrupted in people with Fragile X, leading to neurodevelopmental and behavioral impairments. As a result, these individuals generally experience developmental and language disabilities throughout their lifespan.
Research has identified a direct connection between this mutated Fragile X gene and autism. As many as 76 percent of individuals diagnosed with Fragile X may also receive autism-related diagnoses. Three percent of autism diagnoses also have the Fragile X mutation.
This research has led to innovative clinical trials for medical therapies aiming to reverse the core symptoms related to Fragile X-associated disorders. Notably, individuals with severely impaired social and communication skills have seen the greatest improvements.
Even more, reports indicate that these treatments may reach beyond Fragile X-related autism.
But this is just the beginning.
New ways to accurately identify the genetic roots of these conditions will lead to improved diagnostics. A more timely diagnosis means more effective treatments.
To continue these tests, it is imperative for Congress to encourage innovative drug developments. This is why we successfully promoted the inclusion of a market exclusivity provision for these treatments in last year’s bipartisan pharmaceutical user fee agreement.
As a result, additional clinical trials are under way. These studies give more children with Fragile X hope. These studies provide more families with new opportunities. These studies help our nation’s most dedicated scientists build on promising discoveries.
For these trials to meet their full potential, adequate federal resources must be directed to research and development studying the Fragile X-autism link.
As chairmen of the bipartisan Congressional Fragile X Caucus, we understand that these scientific advancements are the product of a partnership between committed families and the federal government. Continuing these studies takes equal effort from the whole team. Completing these trials could affect millions of our friends and neighbors.
Therefore, we will not give up. We will continue our efforts to modernize programs intended to support youth with significant disabilities.
With the help of disabilities advocates from our home states, and across America, we will inspire continued success in this area so children with special needs can reach their maximum potential.