A recent research study discovered links between five major psychiatric and psychological disorders: bipolar disorder, attention deficit-hyperactivity disorder (ADHD), autism, major depressive disorder, and schizophrenia. This new discovery, published in The Lancet, came about as part of the largest genetic study analyzing psychiatric illness. Researchers unveiled two specific variations in genes that play a role in the calcium balance of brain cells, a common factor in these five disorders that could lead scientists to find a cure or at least a new treatment for these disorders. Not only could new treatments and a potential cure come out of these findings, but geneticists could also use this new information to diagnose patients based on the cause of their disorder rather than on displayed symptoms.
To obtain this information, the Psychiatric Genomics Consortium reviewed the genome of 33,332 patients and 27,888 control subjects of European descent. From this sample, they were able to identify four risk gene mutations that display important and similar associations with the five disorders listed above. These related areas include regions on chromosomes 3p21 and 10q24, and single nucleotide pairs in two genes involved in control and regulation of calcium channels in brain cells.
So what does this mean? Essentially, pinpointing these specific areas of concern on one’s genome is a huge step for researchers and for those affected by these disorders. As of now, an individual begins to display symptoms of autism and is then diagnosed with an ASD (autism spectrum disorder). From there, the individual can work with his or her family and therapist to improve certain symptoms, but completely eliminating the symptoms through something similar to a cure is just not feasible at the time. However, with predictive technologies such as this, scientists could not only determine the likelihood of an individual having one of these disorders, but he or she could also work to eliminate the individual’s symptoms via genetic therapy.
Think about the ramifications this could have on children with autism. Take one of the children I work with at the swim school, Brett*, for example. The majority of his day is spent trying to minimize and control his symptoms. Not only does he attend occupational therapy at least four times per week for several hours, but the people in his everyday life also work towards diminishing his symptoms through small yet effective measures. If he were able to receive genetic therapy to reduce his symptoms, he would have so much more time in his life to spend with his family and to participate in activities that would allow him to feel more like a typical child his age.
This discovery holds an immense amount of potential to inflict positive change upon millions of children’s lives. We can only hope that one day, it will.
*Name changed for privacy reasons.
To learn more, go to: http://www.medicalnewstoday.com/articles/257039.php.
Wow, that is really awesome to hear! It would be so amazing if science could improve the lives of children with disorders like these! I mean, none of them ever chose to be different from everyone else but they always seem to make the best of it! But it stinks when you see a medical condition interrupting a child’s life. You also bring up a good point about treating the symptoms – its one of the reasons I have a grudge against doctors. While doctors “help the symptoms,” the treatment isn’t usually practical. It doesn’t solve the problem; it just covers it up.
You never ever ever fail to bring new and awesome information to the table about this topic! I did a little happy dance after reading this post. As someone who also works with special needs children I understand just what this could mean for them. One of my favorite children, her name is Kristen, is generally so happy. But there are those days when I know it all gets to her. You can feel her frustration – it’s palpable some days. It’s not that she doesn’t think, doesn’t feel, doesn’t want to be able to communicate her wants. She just can’t. And I just… it would be amazing for any type of gene therapy to aid in this.
It always amazes me as to what science can do and the various ways we learn to help other people. It would be a dream come true for this advancement to lead to cures and easy fixes in a sense. But as a potential parent within the next decade or so, it’s really amazing to know that this would be available to me. That my child, if God forbid anything was wrong on an Autistic level, it would be a mere bump in the road, and something we wouldn’t be blind sided by.
You brought up a really interesting point in that this new advancement could allow doctors to figure out the “where” of the disease instead of the “how do we treat symptoms” – my cousin has Asperger’s and is very high functioning, and he’s always joking it seems the doctors are always trying to shove a new drug down his throat every week…. and while he’s made it 16 years without any, it makes me really sad that he’s probably one of a thousand kids they’re trying to treat immediately instead of prevent it for the future. I always get frustrated when I find out how much money the drug companies make off of temporary fixes to diseases, when that money could be put into research.