BURLINGTON, Mass., July 18, 2013 (GLOBE NEWSWIRE) -- The MDSC, the leading Down syndrome organization in Massachusetts, and a national and international leader in the field of Down syndrome programming and advocacy, was excited to hear about a landmark study being published today in the scientific journal Nature.
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.
"We are proud that innovative research about Down syndrome is taking place in our state," said Maureen Gallagher, Executive Director of the MDSC. "However, it's important for us to understand that any direct therapeutic indications as a result of this new research is many years away. Although this is an exciting scientific advancement, it will bring with it many ethical and emotional issues for the Down syndrome community," Gallagher said.
The new research is impressive in its scientific scope. 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 discoveries in the field since French physician Jérome Lejeune identified Down syndrome as a chromosomal condition in 1959," said Dr. Brian Skotko of Mass. General Hospital's Down Syndrome Program who chairs the MDSC's Medical & Scientific Advisory Council. 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.
The MDSC understands the global importance of this study, said Gallagher. Still, she added, the organization also recognizes 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.
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.
In these complex times, the MDSC is positioned to advocate on behalf of all people with Down syndrome, their families and loved ones. In this new era of early pre-natal testing, we have stepped up by expanding our signature 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, the MDSC launched its Massachusetts-based Medical and Scientific Advisory Council to ensure that its 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 recognize the emotional resonance this issue holds for our friends and families in the Down syndrome community," Gallagher said. "And 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. We will continue to serve our members in all the ways that we know how, including first and foremost, promoting acceptance and inclusion.
About the MDSC
Founded in 1983, the MDSC today has more than 4,000 members, an energetic Board of Directors, a dynamic management team, and a vision to ensure that every person with Down syndrome has the opportunity to reach his or her full potential. As we have over the past nearly three decades, the MDSC continues to ensure that all individuals in Massachusetts with Down syndrome are valued, included, and given every opportunity to pursue fulfilling lives. Our signature Parents First Call Program is a volunteer, state-wide group of trained parent mentors available seven days a week to listen, share, answer questions, and provide valuable information. On Oct. 13, thousands of our members will come together at Lake Quannapowitt in Wakefield for our 17th Annual Buddy Walk & Family Picnic to promote acceptance and inclusion.
MDSC Executive Director Maureen Gallagher, 781-248-5949 Director of Communications Joshua Komyerov, 781-221-0024
