New Genes Associated with Autism: How Can Pharma Help?

By March 23, 2017 Pharma and Politics

I have a 4-year son.  When my wife and I found out our child was a boy we were over the moon with excitement.  We already have a girl, and we wanted a boy.  Feelings of luck, fortune, gratitude and love filled our home with anticipation.picture of blocks used to illustrate autism in children

During her pregnancy, my wife and I were approached by the doctor with a suggestion of genetic testing.  As the doctor stated, statistically there is a rise in genetic disorders with our “advanced” age in conjunction with an increase of autism in boys.

Autism increased 10-fold from the 1970’s to the 1990’s.  The increase in autism unfolded in the 2000’s and as we learn more about autism and autism spectrum disorders, statistics tell us 1 in 68 have been diagnosed with an autism spectrum disorder.  My wife and I were concerned as we moved forward with our pregnancy.  Full disclosure, my wife and I would have loved our child no matter the outcome, but like any parents, we wanted a life absent of difficulty for him.

Studies over the years have led to amazing findings in the diagnosing and treatment of autism.  I have seen firsthand what drugs and treatment can do in helping alleviate symptoms.  Although the advances are impressive, the discovery of new genes and pinpointing sequences can lead to development and linkage of current drugs to treatment and potentially, a cure.

 

“Sixteen genes contained subdomains that could be targeted by pharmaceutical intervention and seven contained subdomains for which specific drug-gene interactions are known.”-Maggie Fox, NBC Health

 

What does this mean?  Although possibly 1,000 different types of mutations, targeted treatment could be utilized.  For example, certain mutations could be responsive to drugs known as allosteric modulators of GABA receptors — a class that includes diazepam (Valium), the sleeping pill Ambien and barbiturates.

What does this mean for us in the pharmaceutical industry?  If continuous studies provide further evidence of isolated genes that we can analyze, then the ability to improve and develop new therapies will set us on the path to treating or possibly curing autism in the future.

In addition to improved treatments and outcomes for families, the discovery of new genes provides additional evidence that autism is based in our genes.  If autism is genetic, then there is the possibility of understanding and treatment.  If specific genes can be isolated in a fetus to determine if a child will develop autism, it might be possible to administer therapies in utero to the unborn child.

A world of possibilities awaits.

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