Scientific Breakthrough for Down Syndrome

by Jennifer Lahl, CBC President on July 18, 2013

Researchers have learned how to dampen gene expression of the extra 21st chromosome, which is the cause of Down syndrome. To date, there are no therapies to cure or treat Down syndrome.

Last year, when I was at the Meeting in Rimini Italy, I visited the Jerome Lejeune Foundation exhibit. In July of 1958, Lejeune, a pediatrician and researcher, was studying chromosomes linked to Down syndrome, where he discovered an ‘extra’ chromosome on the 21st pair. In 1964, his discovery earned him the honor of being named the first Professor of Fundamental Genetics at the Faculty of Medicine of Paris. Lejeune would welcome the news of this breakthrough as a possible way to treat children born with Down syndrome.

Real medical breakthroughs are needed for people struggling with disease, genetic or otherwise. Lejeune never imagined his breakthrough, the discovery of this extra chromosome, would lead to today’s “therapies,” which are nothing more than what I call search-and-destroy tactics.

Amniocentesis, chorionic villi sampling, and pre-implantation genetic diagnosis (PGD) are methods of detecting, not treating, Down syndrome. Sadly, in the majority of cases, the child’s life is ended once the diagnosis is made.

Lejeune’s vision for his research was to develop treatments (people with Down syndrome often have myriad medical problems) to improve lives, not end them.

Hopefully this latest news will bring us closer to Lejeune’s vision of providing hope for those living with this diagnosis.

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