Over the past two decades, America has made remarkable strides in advancing Down syndrome research. Thanks in large part to advocacy organizations like the one I lead, federal funding for Down syndrome research has seen more than a seven-fold increase since 2004.
But there's still work to do. The 119th Congress has a once-in-a-generation chance to secure vital investments in a groundbreaking class of medical treatments that could transform -- and even save -- the lives of hundreds of thousands of Americans living with Down syndrome.
Down syndrome is close to my heart for a reason. Just over twenty-one years ago, when I was pregnant with my daughter Sophia, I learned that she would be born with Down syndrome -- and that she would also need open-heart surgery within her first three months of life.
Shortly after Sophia was born, I flew to Bethesda and met with the National Institutes of Health (NIH). I was shocked to learn that Down syndrome received the least funding of any genetic condition -- just $19 million in FY2004. Determined to change this, I founded a non-profit dedicated to advancing research and improving medical care for the Down syndrome community.
Today, that non-profit, known as the Global Down Syndrome Foundation (GLOBAL), is the country's leading advocacy organization for people with Down syndrome. Thanks to our work, as well as the dedication of allies in Congress and at the NIH, annual funding for Down syndrome research is now close to $150 million.
But our work is far from over. An important research-related area for children and adults with Down syndrome is "small-molecule" drugs -- a fancy term for medicines that typically come in pill or tablet form. The convenience and effectiveness of small molecules make them crucial treatment options for our community. But Congress needs to do more to encourage investment in these high-impact medical innovations.
One reason small molecules are so important is that they make it dramatically easier for people to take their medicines as prescribed. Small molecules can usually be administered orally at home, with no hospital or doctor visit required. And with nearly 90% of Americans living within a 5-mile radius of a pharmacy, most small molecules are typically just a short car or bus ride away. Many can even be delivered in the mail.
Large molecule "biologic" treatments, on the other hand, are more complex and usually have to be administered via injection or infusion under a doctor's supervision. This can present challenges for older adults and people with disabilities, who face mobility and transportation barriers at disproportionate rates. Further, many healthcare facilities struggle to accommodate patients with disabilities, turning routine treatments into ordeals.
For millions of patients, including many with Down syndrome, the simplicity and convenience of small molecules means access, equity, and the chance at efficacious treatment. It also means fewer disruptions, less caregiver burden, and more independence.
Yet another reason small molecules are so promising is that they represent the cutting-edge of treatment for many of the illnesses people with Down syndrome are at a higher risk of developing.
As Sophia enters her twenties, I'm acutely aware of a sobering reality: over 50% of people with Down syndrome develop early-onset Alzheimer's disease. This increased risk stems directly from their genetic makeup. By age 40, nearly all individuals with Down syndrome have the brain changes associated with Alzheimer's. Their extra copy of chromosome 21 brings both the unique traits we cherish and this daunting medical challenge.
Small-molecule drugs are one of the most important tools we have to address Alzheimer's and many other neurological conditions. Their size means they can cross the blood-brain barrier, targeting the root causes of cognitive decline with minimal side effects. Researchers are seizing this opportunity, with promising results already emerging. Two experimental drugs recently showed potential in clinical trials for preventing cognitive decline in Down syndrome and treating Alzheimer's.
As exciting as these breakthroughs are, investment in small molecules continues to be a high-stakes gamble. The overwhelming majority of drug candidates never make it out of clinical trials, and thus don't generate a return. A number of recent policy decisions threaten to make the investment and innovation landscape even more uncertain. Several life sciences firms have abandoned promising small molecule projects in recent months.
This Congress, lawmakers will have a chance to adopt a number of bipartisan, common-sense reforms that preserve incentives for future investment in small molecules while ensuring patients of all backgrounds have access to the newest therapies. This includes reintroducing the Ensuring Pathways to Innovative Cures Act (EPIC) Act, which would restore incentives for small-molecule drug development.
Encouraging more investment into pills and tablets could help spark a resurgence in treatments for rare diseases and complex conditions that'd give millions of Americans like my daughter the chance to live healthy and full lives.
Michelle Sie Whitten is the president and CEO of the Global Down Syndrome Foundation (GLOBAL).
