Today’s Most Creative People: The Researchers Who Silenced Down Syndrome’s Extra Chromosome

With 6,000 babies born in the U.S. each year with Down syndrome, the condition remains largely a mystery. The findings published in Nature shed light on the disorder.

Today’s Most Creative People: The Researchers Who Silenced Down Syndrome’s Extra Chromosome

Researchers have silenced the extra chromosome that causes Down syndrome, highlighting the potential of chromosome therapy to manipulate the gene in vitro, according to findings published in the journal Nature.

In the U.S., about 6,000 babies each year are born with Down syndrome, which affects physical and mental development. While the condition remains mysterious to scientists, the research led by Jeanne Lawrence, a University of Massachusetts Medical School professor in cell and developmental biology, sheds light on the disorder. The paper described how scientists manipulated a single gene XIST (the X-inactivation gene), which has been found to silence the second X chromosome in women by creating a regulating piece of RNA. The RNA coats the chromosome, halting the production of protein.

Down syndrome is caused by chromosome 21 trisomy, a condition in which there is a third copy of a chromosome. When scientists inserted the XIST transgene into the extra chromosome, they found they could quiet the copy. Though the findings are significant, we’re still far from a cure. Sangamo, the biotech company that provided the gene-manipulating technology used in this study, said it will continue working with this group of scientists.

Every year, Fast Company names its 100 Most Creative People, highlighting the global leaders in tech, design, media, music, movies, marketing, television, sports, and more. These researchers and other thought leaders will be considered for 2014’s list.

[Image: Flickr user Stuart Caie]

About the author

Based in San Francisco, Alice Truong is Fast Company's West Coast correspondent. She previously reported in Chicago, Washington D.C., New York and most recently Hong Kong, where she (left her heart and) worked as a reporter for the Wall Street Journal.