A Cure Found for Down Syndrome? The Jerome Lejeune Foundation Corrects This Misinterpretation of the Findings Announced Last Week by the University of Massachusetts
Philadelphia, PA (PRWEB) July 24, 2013 -- The media has recently been filled with headlines proclaiming that Down syndrome has been “cured”. Down syndrome, or trisomy 21, is the most common survivable chromosomal abnormality and is caused by the presence at conception of a third copy of chromosome 21. It is a highly complex disorder marked by intellectual disability and usually other medical conditions such as cardiac malformation, autoimmune disorders, increased possibility of leukemia, obesity, and others.
Statements that Down syndrome has been cured are in no way accurate. They are a misinterpretation of news from the University of Massachusetts that a research team led by Dr. Jeanne Lawrence has discovered a way, in a lab setting, to inactivate the extra chromosome in induced pluripotent stem cells. Dr. Lawrence’s team used a virus to deliver a gene (XIST) that normally silences the second X chromosome in females into a specific junction on the extra 21st chromosome of the cells. The result was that the third chromosome 21 was silenced. This can not be understood as a “cure” for Down syndrome, but that is not to say that the research is without value.
As Dr. Lawrence stated, the value of this research is that it, “accelerates our understanding of the cellular defects in Down's syndrome and whether they can be treated with certain drugs. The long-range possibility – and it's an uncertain possibility – is a chromosome therapy for Down's syndrome. But that is ten years or more away. I don't want to get people's hopes up." (Labmate Online, July 19, 2013)
The University of Massachusetts findings follow on another similar report from the University of Washington in November of 2012 in which trisomy 21 was corrected by creating induced pluripotent stem cells from an individual with Down syndrome. A virus was again used to introduce a foreign gene called TKNEO into a particular spot on chromosome 21. When the cells were then grown in a lab medium that selected against TKNEO the extra chromosome was not silenced, but completely removed.
It was Jérôme Lejeune’s belief that a cure would eventually be found for trisomy 21. While this important discovery cannot be interpreted as a cure, the Jérôme Lejeune Foundation welcomes the results of the research team from the University of Massachusetts. Findings from both universities confirm the long suspected possibility of inhibiting the third chromosome 21, and can be seen as first steps toward genetic or epigenetic approaches to chromosomal therapies. These studies also confirm the effectiveness of scientific research on trisomy 21 and the significant role of using ethically responsible induced pluripotent stem cells in research on trisomy 21.
The Jerome Lejeune Foundation USA also congratulates our colleague, Professor André Mégarbané from the Jerome Lejeune Institute in Paris whose paper on the 50th anniversary of the discovery of trisomy 21 (Genetics in Medicine (2009) 11, 611–616) was the first citation in Dr. Lawrence’s publication.
About the Jérôme Lejeune Foundation:
The Jérôme Lejeune Foundation was founded in 1996 and is the world’s largest private funder of research into Down syndrome and other genetic intellectual disabilities, providing approximately $5 million annually for both internal and external research world-wide. With offices in Paris and Philadelphia, the Foundation seeks to provide hope to families, and to fund the most promising research being conducted throughout the world to improve the lives of those living with genetic intellectual disabilities. The Foundation’s mission is based upon three closely joined pillars of activity: research, care, and advocacy, all carried out in a spirit of profound respect for the dignity of all human persons.
Mark Bradford, [email protected], http://LejeuneUSA.org, 215-983-8763, [email protected]
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