Dear MDSC Member,    


A landmark study was published today in the scientific journal Nature that directly relates to the MDSC and the worldwide Down syndrome community.


According to the paper, scientists at the University of Massachusetts Medical School have established that it is possible to silence the expression of most of the genes on the third copy of the 21st chromosome that causes Down syndrome.


According to lead author Jeanne B. Lawrence, PhD, a UMass Medical School professor of cell & developmental biology, the findings promise to improve scientists' understanding of the basic biology underlying Down syndrome, which could, someday, lead to therapeutic applications in humans.


This appears to be one of the most important scientific advancements in the field since French physician J�r�me Lejeune identified Down syndrome as a chromosomal condition in 1959. While people typically have 46 chromosomes in each cell, Lejeune observed that people with Down syndrome had 47. It was later determined that an extra partial or whole copy of chromosome 21 results in the characteristics associated with Down syndrome. You can see the study in its entirety here. 

Therapeutic Implications Years Away


It's important for us to understand that any direct therapeutic implications as a result of this new research is many years away and that although it is an exciting discovery, it will bring with it many ethical and emotional issues for the Down syndrome community.  


We at the MDSC understand the global importance of this study and are proud that innovative research about Down syndrome is taking place in our state. Still, we want to be clear that "chromosome therapy" or other therapeutic applications remain many years away. We also recognize that families may have very different reactions to this news, with some feeling excited by the potential implications, others feeling apprehensive about what it all means, and many feeling some of both.


The MDSC remains committed to our mission of serving the more than 4,000 people living with Down syndrome in Massachusetts as well as their families and ensuring that they are valued, included, and given the opportunities to pursue fulfilling lives. We continue to do this day-in and day-out by providing information, networking opportunities, and advocacy not only for people with Down syndrome and their families, but also for educators, health care professionals, and the community-at-large.

Advances Changing Ds Landscape


In this new millennium, technological advances in Down syndrome studies have begun to change the landscape of our community. In 2000, an international team of scientists successfully identified and catalogued each of the more than 300 genes on chromosome 21. This finding opened the door to the next major advancement - the release in 2011 of the first-ever non-invasive prenatal test for Down syndrome, a simple, accurate, safe blood test that can be administered in the first trimester. As a result, expectant women are increasingly facing both the benefits and challenges of having a Down syndrome diagnosis early in their pregnancy.


Fortunately, in these complex times, the MDSC is perfectly positioned to advocate on behalf of all people with Down syndrome, their families and loved ones. In this new era of early prenatal testing, we have stepped up by expanding our bedrock Parents First Call program and working on new public policy initiatives to ensure that expectant parents get the support and guidance they need to make informed decisions.


In the realm of research, the MDSC has taken a lead in connecting families with researchers. In 2012, we created a Massachusetts-based Medical and Scientific Advisory Council to ensure that our membership has access to accurate up-to-date medical and scientific information and resources pertaining to Down syndrome. The Council also facilitates communication amongst health care providers and scientists in Massachusetts who are interested in working together to develop best practices in providing medical care, therapies, and research related to Down syndrome. 

We're Here for You! 


We recognize the emotional resonance this issue holds for our friends and families in the Down syndrome community. 


We fully understand the mix of emotions this news may give rise to, even as the full implications for our members remain, to some degree, unknown. That said, as we have for the last three decades, the MDSC will to serve our families in all the ways that we know how, including first and foremost, promoting acceptance and inclusion. 


Please feel free to reach out to us with any questions or concerns you may have at 781-221-0024 or 









Maureen Gallagher, Executive Director 
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