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Celebrating the Biomedical Achievements on World Down Syndrome Day

March 19, 2015
Guest Post by Sara Hart Weir, MS, President, National Down Syndrome Society

On March 21, we celebrate the 10th Annual World Down Syndrome Day.  It was established and eventually recognized by the United Nations as a means to raise awareness and mobilize support and recognition of the dignity, rights and well-being of people with Down syndrome across the world.

Down syndrome is a condition in which a person is born with a third copy of chromosome 21, instead of two.  The extra copies of genes present in Down syndrome cause developmental problems and health issues. In fact, most people with Down syndrome have cognitive delays that are mild to moderate.  However, due to advances in medical technology, individuals with Down syndrome are living longer than ever before. Today, as many as 80 percent of adults with Down syndrome reach the age of 60, and many live even longer.

From a scientific and biomedical research standpoint, the nearly 400,000 Americans with Down syndrome, along with their family and friends, have much to celebrate on this World Down Syndrome Day.  As recently as 10 years ago, scientists were reluctant to study the cognitive challenges of individuals with Down syndrome because the condition was seen as too complex to understand, let alone treat.  However, with the sequencing the 21st chromosome, scientists now have a much better understanding of the genetic basis for cognitive impairment associated with Down syndrome, and they have made unprecedented progress towards identifying effective treatments.

For example, two years ago, health research and biotech company Roche initiated a multi-national Phase II clinical trial to evaluate the efficacy and safety of the first drug specifically designed to improve cognitive impairment in Down syndrome.   The drug, which reverses the effects of a chemical messenger in the brain called GABA – a neurotransmitter that inhibits brain activity, is being tested at multiple sites across the U.S. in adolescents and adults, ages 12-30 years old, with Down syndrome.

In addition, scientists are studying the numerous co-occurring and/or simultaneous psychiatric and medical conditions that are seen as an impediment to the development of clinical and behavioral treatments and interventions related to the cognitive function of individuals with Down syndrome.  According to the National Institutes of Health (NIH), at least one-half of all children with Down syndrome also have one or more comorbid conditions, which include Alzheimer’s disease, childhood leukemia, congenital heart disease, autism spectrum disorders, sleep apnea and epilepsy.  All of these conditions could benefit from a concerted and coordinated interdisciplinary effort to examine their correlation and impact on individuals with Down syndrome.

This is especially true of Alzheimer’s disease.  Scientists have discovered that the majority of individuals with Down syndrome develop the pathology of the disease while in the mid-40’s.  They believe that studying Down syndrome will provide new insights into how best to treat people with Alzheimer's disease.  In fact, the Department of Health and Human Service’s National Plan to Address Alzheimer’s Disease underscores the relationship between Down syndrome and Alzheimer’s disease by recognizing the need to improve access to long-term services and supports for individuals with Down syndrome.  In addition, NIH recently published a new grant proposal to study biomarkers of Alzheimer’s disease in Down syndrome.  The goal is to enable the identification of the longitudinal progression of Alzheimer's disease in adults with Down syndrome using clinical, cognitive, imaging, genetic, and biochemical biomarkers.

The National Down Syndrome Society (NDSS) is at the forefront of supporting initiatives that advance the biomedical research field in Down syndrome.  The organization is working with other national Down syndrome groups, biomedical and clinical researchers, NIH and local service providers to cooperatively develop the infrastructure for sustainable and continuous multi-institutional and state-of-the-art trials to develop, validate, refine, and deliver new treatments and therapies to people with Down syndrome.  In addition, NDSS has developed formalized partnerships with the Alzheimer’s community to continue engagement around the National Alzheimer’s Plan, promoting research opportunities, both public and private, for Alzheimer’s in Down syndrome, and educating and building support for this initiative among policymakers.

What has been accomplished since the first World Down Syndrome Day is truly transformational.  On this 10th anniversary, a special recognition goes out to the biomedical and scientific community for the incredible advances have been made toward translating scientific discoveries into new therapies that will dramatically improve the quality of life for people with Down syndrome.

About the Author

Sara Hart Weir, MS, is President of the National Down Syndrome Society, a nonprofit organization whose mission is to be the national advocate for the value, acceptance and inclusion of people with Down syndrome.  NDSS envisions a world in which all people with Down syndrome have the opportunity to enhance their quality of life, realize their life aspirations, and become valued members of welcoming communities.