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$2.5 million initial commitment to launch project

DENVER –The Global Down Syndrome Foundation today announced that Biogen, a neuroscience leader has joined the Global Down Syndrome Foundation and the University of Colorado School of Medicine in a groundbreaking project that explores the connection between Alzheimer’s disease and Down syndrome.

The Crnic Institute Human Trisome ProjectTM (HTP) is an ambitious longitudinal and cross-sectional study that will recruit 1,000 individuals with Down syndrome (also known as Trisomy 21) and 500 typical individuals. Scientists and clinicians will sequence and study several layers of genomics information (all de-identified) from a single sample of blood. Saliva, stool and other samples are also being collected. The Crnic Institute HTP has already begun to significantly increase the speed of Down syndrome research and has enrolled nearly 300 participants in the first 11 months.

“People with Down syndrome have a different disease spectrum,” said Dr. Joaquín Espinosa, executive director of the Crnic Institute, and the principal investigator of the Crnic Institute HTP. “The Crnic Institute HTP will allow us to redefine Down syndrome from the least scientifically understood condition to one of the best understood conditions. In addition, it will provide unprecedented understanding of Alzheimer’s disease, autoimmune conditions, cancers and other medical conditions that people with Down syndrome are either very predisposed to or protected from, eventually enabling the development of new diagnostic and therapeutic tools.”

“This research will serve first and foremost people with Down syndrome, but also the millions of individuals without Down syndrome who are affected by the many medical conditions modulated by trisomy 21,” said Espinosa.

Biogen has committed more than $500,000 and additional in-kind resources to the Crnic Institute HTP to investigate the genome and epigenome of specific cell types in the blood that could inform the development of Alzheimer’s disease. This initial investment is being financed with funds from Biogen and $1 million from the University of Colorado School of Medicine at the Anschutz Medical Campus – home to the Linda Crnic Institute for Down Syndrome – with a matching gift of $1 million from the Global Down Syndrome Foundation.

“Down syndrome is still one of the least funded genetic conditions of the federal government, so we are extremely grateful for the commitment from CU and Biogen,” said Michelle Sie Whitten, president & CEO of the Global Down Syndrome Foundation. “This is just the beginning as we hope to attract other biopharmaceutical organizations and philanthropists committed to improving the lives of people with Down syndrome and other conditions.”

“The School of Medicine provides a home for outstanding biomedical research that leads to improved care for all,” said Dr. John J. Reilly, Jr., vice chancellor for health affairs and dean of the University of Colorado School of Medicine. “We are confident that this investment will have a significant impact on our understanding of the health of people with Down syndrome and that it will lead to discoveries informing the care we provide.”

“Our son is 38 years old and we are concerned that he may get Alzheimer’s,” said Jack and Penni Dorwart, whose son participated in the Crnic Institute HTP.  “We also know that if we have high- quality research that there is the potential to significantly improve not only our son’s life but millions of others with Down syndrome who have many other medical issues that prevent good quality of life. That is why we participated in this study and we encourage others to do the same. We are grateful to the Crnic Institute and the Global Down Syndrome Foundation for taking on this difficult work and advocating for our children and adults.”

Learn more about in the Crnic Institute Human Trisome ProjectTM or sign up to participate in the study.

DENVER
Michelle Sie Whitten, President and CEO of the Global Down Syndrome Foundation released the following statement today regarding the recent CBSN story on ‘eradicating’ Down syndrome in Iceland:

“It’s heartbreaking to see what is happening in Iceland today, and shocking to see that this level of misinformation and discrimination against people with Down syndrome still exists. While every mother and every pregnancy is unique, the fact is those born with Down syndrome can and do live long, happy and productive lives. Women making these critical decisions need to have the facts.

Educating the medical community and pregnant women with accurate and current information about Down syndrome is imperative. Global Down Syndrome Foundation and the National Down Syndrome Congress recently updated their Prenatal Testing Pamphlet for pregnant women and health providers about what to expect with a prenatal diagnosis of Down syndrome. This information is free and available in English and Spanish.

The situation in Iceland is a reminder of how important it is that Global continues to invest in medical care, education and advocacy, and that we continue to advance the world class research that is helping us better understand Down syndrome,” said Whitten.

In addition, below are specific facts about the condition in the United States:

  • Lifespan – Today, the average lifespan of a person with Down syndrome is nearly 60 years.
  • Termination Rates – The best available statistics in the U.S. are that an estimated 67 percent of women who receive an amniocentesis resulting in a positive test result for Down syndrome choose to terminate their pregnancies. But over 95 percent of pregnant women don’t even elect to receive an amniocentesis.
  • Medical Care & Research – There have been great strides in medical care and research that have doubled the lifespan of people with Down syndrome over the last 30 years.
  • Educational Opportunities – People with Down syndrome are included in public schools. Many complete high school, and increasing numbers are going to college or get vocational training.
  • Voting & Employment – Many people with Down syndrome work, volunteer and vote.
  • Marriage, Siblings & Self-advocates – Despite potential challenges, personal accounts and studies show most families that have a child with Down syndrome are stable, successful and happy, and that siblings often report having increased levels of compassion and empathy. One major study on marriages and Down syndrome shows that the divorce rate among parents of children with Down syndrome is lower than the national average.

For the most current, accurate information and resources associated with people with Down syndrome visit www.globaldownsyndrome.org/facts.

Global Down Syndrome Foundation (Global) is a nonpartisan, leading research, medical care and advocacy organization for people with Down syndrome. Global believes strongly that all Americans, including members of our community, must have access to affordable, high-quality healthcare and health insurance coverage appropriate for their needs. Global urges Senators to keep key patient protections and health insurance coverage that are part of current law in any Affordable Care Act (also known as Obamacare) replacement bill that is considered by the Senate.

We encourage the Senate to:

  • Ensure that people with pre-existing conditions like Down syndrome continue to have access to affordable, high-quality health insurance – regardless of whether or not they currently have insurance;
  • Protect federal funding for Medicaid to ensure that people who received coverage under previous expansions won’t lose their insurance;
  • Remove caps on federal contributions to state Medicaid programs – caps could result in persons losing coverage or those maintaining Medicaid coverage seeing a reduction in covered medical services and higher out-of-pocket costs; and
  • Continue the Affordable Care Act provision that allows children up to age 26 to stay on their parents’ health insurance policies.

Time is of the essence – the Senate may hold a vote on this legislation this week. We urge all Global Down Syndrome Foundation advocates to contact your Senators immediately and urge the Senate to allow for a full and open debate on their healthcare proposal and to oppose any plan that removes current patient protections and coverage for individuals with Down syndrome. As the debate on health care reform continues, Global is engaged with our friends in Congress to protect the health and wellbeing of all individuals with Down syndrome.

Thank you for your advocacy and support!


representative

Corresponding Phone Script:

“Hi. My name is _________ and I live in [Hometown, State].

“I’m a volunteer and advocate with the Global Down Syndrome Foundation. I am deeply concerned that the Senate version of the American Health Care Act will not include protections that are important for people with Down syndrome. In particular, I am concerned that this bill [1) doesn’t guarantee insurance coverage for people with preexisting conditions, 2) cuts federal funding for Medicaid expansion, 3) establishes caps on federal funding for Medicaid, and/or 4) would not allow people to stay on their parents’ health insurance plans up to age 26 – include one or more based on your specific concerns].

“I am also concerned that the public will not have enough time to review and provide feedback on this bill. I hope Senator ____ will work with [his/her] colleagues to make sure that there is ample time for debate and input on this bill.

“These healthcare protections are extremely important not only for people with Down syndrome, but for all Americans.

“Thank you.”