Stories about: Down syndrome

A major discovery in Down syndrome

Researchers have silenced the third copy of chromosome 21, at least in a dish. What might this mean for Down syndrome? (Wikimedia Commons)
Researchers have silenced the third copy of chromosome 21, at least in a dish. What might this mean for Down syndrome? (Wikimedia Commons)

Emily Jean Davidson, MD, MPH, is clinical director of the Down Syndrome Program at Boston Children’s Hospital. Walter Kaufmann, MD, and David Stein, PsyD, research co-directors for the Down Syndrome Program, contributed to this post, along with Nicole Baumer, MD, fellow in Neurodevelopmental Disabilities, and Down Syndrome Program Coordinator Angela Lombardo, BA.

Last week, researchers at the University of Massachusetts published a fascinating and important study on Down syndrome in Nature. Lisa Hall, PhD, Jeanne Lawrence, PhD, and their colleagues were able to effectively “shut down” the gene activity of one of the three copies of the 21st chromosome in cells with trisomy 21.

What exactly did they do?  The research team started with skin cells from a man with trisomy 21 that were transformed into induced pluripotent stem cells—cells that act like cells from an embryo and can develop into different cell types. They then took a gene from the X chromosome that is responsible for making sure that only one X chromosome is active in females—the X-inactivation gene—and inserted it in a specific location on chromosome 21.

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Fetal DNA tests: Are we finally entering an era of eugenics?

Eugenics, 1919. (Photo: A.M. Kuchling/Flickr)

As an Ashkenazi Jew planning to have a baby, I sure as heck wanted carrier screening for Tay-Sachs disease. But that disease is incurable and lethal. What about diseases that don’t severely limit lifespan and aren’t that disabling? During my pregnancy, I went on to have amniocentesis, which included testing for Down syndrome and – because of my family history — for a few genes associated with autism and mental retardation. But even as I was tested, I had no idea what I’d do if results came back positive.

Sometime soon, almost every expectant family may be faced with such life-and-death decisions. New tests are arriving that can detect Down syndrome by analyzing fetal DNA in the mother’s blood during the first trimester of pregnancy.

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