Tag Archives: down syndrome

Lott Industries – “A Whole Lott More”

At first glance, you might not think there’s a lot to Lott Industries of Toledo, Ohio. A company that excelled in the automotive industry was facing closure like similar companies thanks to the decline of the auto industry in neighboring Detroit. Known for employing over 1,200 works with developmental disabilities, Lott Industries was in a tough situation. They had twelve months to reinvent themselves and to save the livelihoods of their employees.

The critical journey to reinvent the company is followed in a documentary that came out last spring. It follows the perspectives of three unique and memorable characters. If you came into Lott Industries you wouldn’t know these people had disabilities, you would just see workers. According to the film’s website, more than eight million people in America have developmental disabilities, and 80% of them remain unemployed. The documentary follows Wanda, TJ, and Kevin. Continue reading "Lott Industries – “A Whole Lott More”"

DS-Connect™: The Down Syndrome Registry

Image Courtesy of National Institutes of Health
Image Courtesy of National Institutes of Health

A national registry has been launched in September 2013 to create an online community for people with Down syndrome, their families, and doctors and scientists who are dedicated to improving their health and lives. The repository is known as DS-Connect.

The National Institutes of Health had this to say on their website about the back-story of how DS-Connect came to be:

“After several years of working with scientific and family communities to achieve the various goals of the NIH Research Plan on Down Syndrome that was created in 2007, the NIH formed the Down Syndrome Consortium to foster communication and idea-sharing among NIH, individuals with Down syndrome and their families, national organizations interested in Down syndrome, and pediatric and other groups. One of its first activities was to create a Down syndrome registry, now called DS-Connect™: The NIH Down Syndrome Consortium Registry.”

Photo Courtesy of National Institutes of Health
Photo Courtesy of National Institutes of Health

For those who register and give consent, they will have the opportunity to be contacted by researchers to participate in research studies. Families can connect with each other to  share stories and get support. The registry will provide users with general information about Down syndrome and they can opt to participate in surveys where statistical data is then shared.  Profiles are customizable and can also be used to set reminders and appointments. DS-Connect is a confidential database and complies with regulations and laws governing privacy and health data.

If you have questions about the registry, contact NIH at: DSConnect@nih.gov.

NBC NEWS Reports that Gene Known as Xist can Silence the Extra Chromosome in Down Syndrome

Could it be a ‘cure’? Breakthrough prompts Down syndrome soul-searching

By: JoNel Aleccia, NBC News

In the 14 years since her daughter, Rachel, was born with Down syndrome, Jawanda Mast has always been clear that she’d change the condition if she could.

Image Source: NBC News
Image Source: NBC News

“I couldn’t love her more, but I would give almost anything to take away that extra chromosome,” the Olathe, Kansas, mom wrote on her blog. “While I may know she’s perfect, the world doesn’t.”

But when Massachusetts scientists announced recently that they’ve found a way to silence the chromosome that causes trisomy 21, also known as Down syndrome, it rocked Mast – and the rest of the disability community.

“It’s so hard to imagine you could actually do that,” Mast told NBC News. “Yes, I would take away the challenges, I would take away the health risks. But now I also stop and say, ‘Oh my goodness, how would that impact the rest of her?’”

Hailed as a “cure in a Petri dish,” the research by scientists at the University of Massachusetts Medical School is the first to find that it may be possible to switch off the genetic material responsible for the condition that causes cognitive delays, heart defects and shortened lifespans.

The development is expected to help create new treatments for problems caused by Down syndrome — but it also raises the prospect of eliminating the condition entirely.

Since it became public last month, the breakthrough has sparked a firestorm of reaction among parents, advocates, ethicists and people with the condition, said Dr. Brian Skotko, a medical geneticist and co-director of the Down Syndrome Program at Massachusetts General Hospital.

To read the full article, visit NBC News Health http://www.nbcnews.com/health/could-it-be-cure-breakthrough-prompts-down-syndrome-soul-searching-6C10879213

The study has been recently published online and is available at http://www.nature.com/nature/journal/vaop/ncurrent/full/nature12394.html

Video courtesy of YouTube