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Jeanne Lawrence, a University of Massachusetts medical school researcher, authored a study that designed a way to mimic the natural process that cancels one of the two X chromosomes carried by mothers.
These two X chromosomes hold a gene she calls XIST (the X-inactivation gene), that produces RNA that attaches to the chromosome and covers it, thereby blocking other genes from originating.
Researchers believe this finding could not only eliminate the advancement of Down Syndrome during gestation, but they also believe it might lead to treatments for those who already have Down Syndrome, who have higher incidents of dementia earlier in life, and other health and development issues.
Additionally, this research could benefit studies trying to understand why people with Down Syndrome get fewer cancers, and seem to enjoy a more content personality in some cases.
This finding has members of the medical profession asking a wide range of questions, and they are excited about the possibilities of new advances that could save lives.
One obvious question is what happens when one copy of the gene is canceled?
Could it be that Down Syndrome is a reaction to the presence of cancer, and the body’s own creation of the second set of X chromosomes acts as a protector from those cancers? Thus, when that extra chromosome is removed, could it unleash a vulnerability to cancer?
In the Boston Children’s Hospital research, scientists say they believe that while there is “more than one factor at work in cancer suppression,” this type of research could lead to followup experiments that could find cures.
They hypothesize that the suppression of four or five genes that might work “together to suppress anglogenesis and tumor growth.”
The other question is ethical. Some have asserted that such experiments are “playing God” and fit alongside experiments like human cloning and cruel realities like Dolly the Sheep who died of tumors that grew in her lungs.
Some wonder what would be lost on the world if people with Down Syndrome ceased to exist.
There might be a “best of all worlds” answer here.
Scientists in the latest study spliced the XIST gene into three copies of chromosome 21, and then inserted a genetic “switch” whereby they could turn on or off the expression of individual genes by use of an antibiotic that worked to dampen the manifestation of the pervasive developmental disabilities of Down Syndrome.
Nissim Benvenisty of Hebrew University in Jerusalem said that “the idea of shutting off a whole chromosome is extremely interesting.”
He envisions the expansion of this research where scientists can compare altered cells with the extra chromosomes turned on and those with the extra chromosome turned off – to see how each functions and contributes to the health and quality of life of the individual in question. He believes this could lead to exciting advancements and treatments for those with, and without, Down Syndrome.
Science aside, those who know and love people with Down Syndrome are tenuous.
One doctor pair in St. Louis, Mo., Jan Mueller, who specializes in primary care for children with Down Syndrome, and her husband, Dr. Rob Hanson, are parents of a daughter with Down Syndrome. Jan said she and her husband (a pediatric oncologist) thought a day might come where there was a “cure” for Down Syndrome.
In an exclusive interview with WND, the couple said they had often asked themselves if they would change their daughter’s genetic makeup if they could.
“Jenny brings joy wherever she goes. She is thoughtful, empathetic, patient, and funny. She is (one) friend in a million and the daughter of a lifetime. If we inactivated her extra chromosome, what might we lose?” Mueller wondered.
Mueller was ambivalent, “This research is a true scientific breakthrough, and the authors are to be congratulated. The potential for changing the lives of children with Down Syndrome is enormous, possibly impacting the medical challenges as well as the developmental difficulties. This is exciting research!”
But she admitted that the world would be very different without those like her daughter, Jenny.
“Our family has been changed forever by her sweetness, and her enjoyment of all aspects of life. We would certainly lose a precious gift, and invitation to slow down and be grateful. I think losing that extra chromosome in children with Down Syndrome might take some sparkle from the world!”
Hanson added, “Jenny is made perfectly, but this world is not.”
He would rather change the world that children with Down Syndrome enter, than to change them. Mueller agrees.
Researchers expect to take these experiments to mice next, and expect to find even more possibilities for their gene research then. Human experiments are years down the road.