Can We Prevent Down Syndrome Before Birth?… Japanese researchers have made a historic achievement, effected removal of the additional chromosome responsible for Down syndrome with CRISPR gene-editing technology, restoring normal cell function.
For the first time ever, scientists led by Dr. Ryotaro Hashizume at Mie University have eradicated the cellular cause of Down syndrome. They used a technique that specifically identifies and removes only the third copy of chromosome 21 and leaves the two normal ones behind.
Down syndrome, affecting roughly 1 in every 700 births worldwide, is caused by trisomy 21, when cells have an extra chromosome 21. This excess genetic material interferes with growth, causing intellectual disability, unique facial features, and heightened risk of medical problems such as heart abnormalities and premature Alzheimer’s.
The group employed a method known as allele-specific editing that instructs CRISPR-Cas9 to identify and make cuts only in sequences that are found in the extra chromosome. After being cut, the unstable chromosome is automatically eliminated as cells are dividing.
In their trials, the process was successful in removing the excess chromosome in 30.6% of instances. Treated cells regained normal gene expression, protein synthesis, and survival rates; comparable to normal cells. Impressively, this was achieved not only with stem cells but even with differentiated skin cells derived from patients with Down syndrome.
While clinical application is yet years off, this work is a giant step in that direction. It paves the way for potential treatments that may someday prevent or alleviate the devastating complications of Down syndrome.
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