Days after our daughter Lyra was born, my partner and I received her karyotype, or snapshot of her chromosomes. It showed she has a third 21st chromosome, which causes Down syndrome. We then spent the next few years rigorously studying the reality of a DS diagnosis — which can be fascinating and sometimes heartbreaking.
Along the way, we’ve met many parents who’ve changed the trajectory of their careers after having a child with DS, including Lito Ramirez. Ramirez was working for a biopharmaceutical strategic agency when his youngest child, Cal, was born with DS.
As he describes in a TED Talk, 18 months later, Ramirez created DownSyndrome Achieves (DSA) with the mission to establish and maintain the first Down syndrome biobank in America open to all researchers studying the comorbidities, or other common diagnoses, in people with DS.
What, you may ask, is a biobank and why is one needed?
Using rigorous procedures to ensure material integrity, biobanks collect, process and store human biological matter, such as blood, plasma, serum, tissue and more. They then give these specimens to medical researchers whose proposals meet the standards and requirements of that biobank.
Collecting human biomaterial is nothing new. There are records of ancient Greek physicians comparing diseased tissue from multiple bodies in order to develop both an understanding of how a disease worked as well as possible treatments.
But it was the explosion of the HIV/AIDS epidemic in the 1980s that propelled the development of modern biobanks. Opened in 1982, the AIDS Specimen Bank (ASB) at the University of California in San Francisco (UCSF) was one of the first of its kind focusing on biomaterials for one disease. Its existence greatly expedited the development of treatments for HIV/AIDS.
Why? Because biobanks provide a critical step that saves researchers valuable time. Simply put, without having to first find and collect biomaterials, they can get to work faster.
Today, some biobanks are disease-oriented like the USFC ASB, including those for various forms of cancer, Alzheimer’s disease, cystic fibrosis and even COVID-19.
There are other biobanks, however, that are population-oriented. Various countries, including Iceland, the United Kingdom and Sweden, have established biobanks to study the environmental and genetic causes of various illnesses. As Down syndrome is not a disease, it also falls into this category.
After years of preparation, this past January DSA Biobank opened for business and began accepting applications from researchers.
Many may think, well that’s great for people with DS, but it won’t impact my life. And there they’d be mistaken, because the comorbidities of DS are often diseases that affect the general population.
An example is Alzheimer’s disease (AD). One of the heartbreaking things we’ve learned is that by their 40s, 80-100% of people with DS will develop amyloid plaques in their brains, which is the underlying pathology of AD. The gene associated with amyloid plaques is located on the 21st chromosome, the same one of which people with DS have a third copy.
Like many parents of children with DS, we were crushed when we first learned this. However, this sad fact creates the possibility to make tremendous advances in AD research for all populations.
How so? Well, we can’t test preventative treatments on people in the general population because we do not know who among them will develop dementia. But we know people with DS will, making them a control group. Many people with DS are now participating in AD studies and any breakthroughs will be a win-win for all populations.
On a more positive note, people with DS rarely develop solid tumorous cancers. As researchers studying this at Lurie Children’s Hospital in Chicago recently stated, their research on DS populations “carries strong potential for ultimately developing gene-targeted therapies to inhibit solid tumor growth in the general population.”
Soon after DSA Biobank opened, they received their first application for biospecimens. Dr. Dimitrios Karamichos at the University of North Texas Health Science Center is studying an eye disorder known as keratoconus, in which the cornea thins and bulges out. It can cause problems with vision and, in severe cases, require cornea transplants.
Like many comorbidities, keratoconus is far more common in people with Down syndrome. On average it affects 30-40% of people with DS, compared to just .00055 percent of the general population. As a part of their effort to expand research on Down syndrome, the National Institutes of Health just awarded Karamichos $275,000 for his work.
“I’d been looking for a biobank to work with for years,” said Karamichos, whose primary specimens will be tears as they are effected by cornea diseases. He was thrilled when he found DSA Biobank and its quality supply of research materials.
Karamichos hopes his two-year study will help explain the mechanisms of the disease, and make it possible to identify who is at risk and possibly prevent the disease pharmaceutically.
In a year with few bright spots, the 2020 opening of DSA Biobank is cause for celebration. The potential to improve the lives of people with DS — and many others — has never been as promising as it is today.
This column first appeared in the Akron Beacon Journal on Sunday, October 4, 2020.