People with Down syndrome are a gift to bioscience

Scientists have confirmed that in typical people with Alzheimer’s disease, their cells start producing extra amyloid protein that is derived from the Amyloid Precursor Protein (APP) gene.  The APP gene resides on chromosome 21.  People with Down syndrome are born with three copies of every gene on the chromosome 21 including the APP gene; therefore, from birth they have the trigger for Alzheimer’s disease.

Alzheimer’s disease can start manifesting as early as 20 years before symptoms such as dementia can be detected.  While we cannot guess who in the typical population will get Alzheimer’s disease, we can do exactly that in people with Down syndrome and try to understand how to treat the disease early on.

Additionally, understanding why up to 30 percent of people with Down syndrome have the brain pathology of Alzheimer’s disease but do not have symptoms such as dementia may help us with diagnostics, therapies, or even a cure.

Why Is Down Syndrome One of the Least Funded Genetic Conditions in the US?

Despite the untapped scientific potential, and despite being the leading cause of developmental delay in the world, Down syndrome has been one the least funded genetic conditions by our National Institutes of Health (NIH) since 2001.  

The most disturbing theory is that with the advent of the amniocentesis (amnio), and then the touting in the 1990s of a simple blood test that could be nearly 100 percent accurate, there was this idea that “earlier, better testing will solve the Down syndrome problem.”  In other words, all pregnant women will get tested and those testing positive for Down syndrome will abort.  Headlines in major newspapers citing “90 percent termination rates for Down syndrome” certainly fed this theory.  

These predictions never played out and the 90 percent statistic is completely incorrect.  Simply put, an overwhelming majority of pregnant women do not choose to get an amnio test.  

The more positive theory related to the underfunding for Down syndrome research is that people with Down syndrome have done so well there was less of a need to advocate for more research.

People with Down syndrome have certainly made many gains over the last 30 years – the lifespan of a person with Down syndrome has nearly tripled to over 60 years; the inhumane institutions where most of our children were ‘placed’ have long been dismantled; children with Down syndrome are allowed a free and appropriate public education; more people with Down syndrome are graduating from school, getting jobs or even getting married; a reality show about adults with Down syndrome called Born this Way won an Emmy award just this year.

Regardless of what theory you choose to believe, the lack of funding for research has hindered the true potential of people with Down syndrome in many ways.

We are deeply engaged with the leadership at the NIH, and we are grateful to have strong champions in Congress such as Representatives Cathy McMorris Rodgers (R-WA), Pete Sessions (R-TX), Chris Van Hollen (D-MD), Diana DeGette (D-CO), and Rosa DeLauro (D-CT).

Our most ambitious project to date is the Human Trisome Project BiobankTM, launched by the Crnic Institute’s Associate Director for Science, Dr. Joaquín Espinosa.  The project will require only a single blood draw from 1,000 people with Down syndrome and 500 typical people.  

The biobank will be a discovery accelerator.  Just last month a proof of concept project was published in the high-impact journal, e-life, that has transformative implications associated with Down syndrome and autoimmune disorders, solid tumor cancers, and cognition.

The best news for parents like me is that with this additional research we will finally be able to more clearly understand what medical problems our children and adults are at risk for and what treatments work best.  We may even be able to mitigate disease and dramatically improve health outcomes that surely will affect school performance, ability to work, and to live independently.