OKLAHOMA CITY – A piece of cutting edge research that sounds a lot like science fiction is offering to change the way chromosomes work in those with Down Syndrome.
Like many couples, Donny and Michelle McCullough work as a team to get dinner on the table.
Donny said, “I’m so happy that I live here with my wife.”
However, they also face special challenges.
Michelle is severely disabled and Donny has Down Syndrome.
Dr. John Mulvihill, a genetics professor at OU Children’s Hospital, says people with Down Syndrome are born with three copies of chromosome 21, instead of the common two copies.
Dr. Mulvihill said, “Obviously, three doses of the gene in combination with all the child’s own inheritance produce the Down Syndrome.”
For those with Down Syndrome, there could be changes in the future.
Work done at a genetics lab is now showing a major breakthrough involving a recent study with mice.
Researchers have identified a compound that boosts learning when given to mice with a Down Syndrome-like condition.
They found that one dose appears to grow the cerebellum to a normal size.
However, side effects still need to be studied.
Doctors say an even bigger breakthrough will soon be tested in mice.
Dr. Mulvihill said, “It is an absolutely fascinating finding and it opens a new door. A biological tool to understand how human chromosomes function.”
The research focused on a gene called XIST that is shown to deactivate certain chromosomes.
He said, “So the notion is incredible that you could zip up a chromosome.”
Tests showed the extra chromosome stopped working and cells grew rapidly, which could lead to normal or higher function for people with Down Syndrome when they are treated during pregnancy or even later in life.
Sharon Garrity, Donny’s mother, said, “I would love to believe that it’s a very altruistic way of improving life but I don’t think we want a cookie cutter society where everybody has to be the same.”
Religious groups aren’t as hesitant to offer their opinion on the finding.
Tina Dzurisin, with the Archdiocese of Oklahoma City, said, “If the reason that 95 percent of children with Down Syndrome are aborted because people, somehow people fear the challenge of raising a child with Down Syndrome. Then potentially it could affect that abortion rate.”
The ramifications are booming and it is not just about Down Syndrome.
Dr. Mulvihill said, “One of the genes on that chromosome contributes to Alzheimers, so what if even in a normal person you could zip off the area.”
He added, “The research will be multiplied. This raises many, many questions that will have to be addressed by multiple laboratories around the world.”
It’s cutting edge research that is putting people like Garrity on edge.
She said, “Being Donny’s mama has been a joy to my life… and I don’t know if I would change that.”
Dr. Mulvihill is careful to warn that utilizing this research is still around 10 years away.