New Genetic Therapy Provides Breakthrough for Down Syndrome

Thursday, July 18, 2013

Every year, 6,000 American babies are born with an extra copy of chromosome 21, the genetic cause of Down Syndrome.

Researchers have puzzled over that extra chromosome since Dr. Jerome Lejeune discovered it in 1959. But this week, doctors at the University of Massachusetts Medical School announced a breakthrough that could have significant implications for how we treat the disease.

According to Dr. Brian Skotko, co-director of the Down Syndrome Program at Massachusetts General Hospital and professor at Harvard Medical School, this landmark study demonstrates that "it is possible, at least in a Petri dish, to be able to turn off that extra chromosome."

"I have to say," Dr. Skotko continues, "over the past decade, we never thought this would be possible. But Dr. Lawrence and her team have shown that, perhaps in the future, it is possible."

Dr. Skotko describes the implications for patients living with Down Syndrome, and the potential ethical issues that could arise from this new genetic therapy. 

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Guests:

Dr. Brian Skotko

Produced by:

Jillian Weinberger

Comments [6]

Tammy Stein-Sandbo from Rescue, CA

I have 14 year old daughter with Down Syndrome and can see both pointss of view regarding this research and the possible plus and minuses of it.

Jul. 20 2013 10:03 AM
lauri flatley

Cindy- S the sibling of an adult with Down Syndrome, please rest assured that your child's accomplishments can only be limited byhis dreams. There are so many shining examples of the accomplishments and beauty that come from this genetic condition (it is not a disease as they refer to it). If anything, that extra chromisone contains thehope for the future and the key to unconditioal love. I am forever grateful that you have shared your son with the world!

Jul. 19 2013 04:00 AM
Kate Eichten Amlee from St. Paul

Thank you for this piece. I have been blessed to be the mother and sister of of two amazing individuals with Down syndrome. I believe that living with and loving them has made me a more patient, empathetic, and compassionate person. I wish more people could experience the great blessings (and unique challenges) that loving a person with D. S. brings.

P.S. While I am sure there was no ill intentions, I do ask that you please do not refer to Down syndrome as a "disease". It is a genetic condition. It is not a sickness, and those with it aren't contagious. Thank you.

Jul. 18 2013 04:10 PM
Cindy from Massachusetts

My son with Down Syndrome is 26. When he was younger life was easier. Now I worry about his future, about when I die, about how much he is missing out on that we all take for granted. Mostly importantly - is his life fulfilling? I know he is happy and full of love, but I would love to see him spread his wings, and that will never happen. I support these discoveries in new technologiy. If that could be done for my son, I wouldn't hesistate, as long as it wasn't dangerous or risky.

Jul. 18 2013 03:15 PM
Cindy from Massachusetts

My son with Down Syndrome is 26. When he was younger life was easier. Now I worry about his future, about when I die, about how much he is missing out on that we all take for granted. Mostly importantly - is his life fulfilling? I know he is happy and full of love, but I would love to see him spread his wings, and that will never happen. I support these discoveries in new technologiy. If that could be done for my son, I wouldn't hesistate, as long as it wasn't dangerous or risky.

Jul. 18 2013 03:15 PM
Villebois from New York

If you want to see a powerful example of the unique gifts that a Down's syndrome child brings to a family, watch the terrific documentary "Crash Reel." Absolutely remarkable.

Jul. 18 2013 09:35 AM

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