Photography by Jensen Sutta And courtesy of Global Down Syndrome Foundation

Photography by Jensen Sutta
And courtesy of Global Down Syndrome Foundation

I am not a trained medical professional or scientific-terminology inclined. I am, however, a parent. Which for many people is the catalyst into an array of verbiage regarding anatomy, new medical issues, etc. For me, that’s when I began to learn about genetics and diagnoses previously unknown (or little known) to me.

As I became an advocate, I learned of more, new (to me) medical conditions and complexities. Then, although I’ve always been a writer, once I was asked to co-author a book, even more medical information became a part of my vernacular.

Vernacular, isn’t that a cool word?  It basically means the language used by a group of people, a language variety, most often referring to people in a certain geographical area, but in this case it refers to a community spread across the world: The Down syndrome community, and also the greater disability community.

While working on The Parent’s Guide to Down Syndrome, Jen Jacob and I took on the challenge of explaining and describing medical conditions, effects, and treatments in very short form and in ways that sound more like English and less like Science. So, although I am not a medical professional or scientist, and I clearly enjoy words more than biology, I’ve had both real life experience as well as educated myself via classes, seminars with experts, reading, and more reading, most of which specifically involves the gamut of variables that are more, or less, likely to affect a person with Down syndrome.

At about this time last year, I went to 4th Annual Down Syndrome Symposium and sat in the last row in an auditorium full of researchers and students interested in research. I wrote about my emotional reaction, but never really followed up with the science nitty-gritties. I could give you my litany of reasons/excuses for that but instead, Lucky You! I’m going to plain speak some exciting research going-ons in the field of Down syndrome right now.

The Human Trisome Project

This is a huge endeavor that already involves several partners and looks to include 1000 people with Down syndrome to participate (plus relatives and control groups). In most cases, the person with Ds only needs to donate a blood sample and provide medical background details. From this, researchers will gather this dataset:

From Powerpoint about the Human Trisome Project. Used with Permission.

From Powerpoint about the Human Trisome Project. Used with Permission.

Now, What good is that? How will this help people with and without Ds? What is the point to all of this information?

Slow down there, let me first tell you about Joaquin Espinosa, PHD. I’ve had the pleasure to meet with him a few times, in addition to hearing him present and share information with parents, panelists, and other researchers. Dr. Espinosa is the Associate Director for Science at the Linda Crnic Institute for Down Syndrome, and chairing the steering committee which oversees all aspects of The Human Trisome Project.

He explains that “Nothing in the study of Ds makes sense except in the light of personalized medicine.” Because one of the points that baffle scientists (and is known and obvious to parents, teachers, and friends) is that Down syndrome presents itself so uniquely in every person. In fact, at the medical symposium at the NDSC conference, Dr. Espinosa pointed out that “Even the trisomy is unique in each person.”

How’s science supposed to work with that?

By gathering the detailed specific data from 1000 beautiful, unique, people with Down syndrome.

Let’s cut to the Goals of the Human Trisome Project as listed on their website:

1.  We will perform the largest and most comprehensive study of individuals with trisomy 21, including extensive characterization at the clinical, physiological, cellular and molecular levels. 

2.  We will bring together top data scientists, basic scientists and clinical researchers to translate this powerful knowledge into new diagnostic and therapeutic tools. These findings will benefit individuals with trisomy 21 and the world population as a whole.

3.  We will create matching public databases and bio-repositories of key biological samples to accelerate research on Down syndrome worldwide.

I chatted the other day about the second part of the second goal in this article “Support Research that Affects Someone You Love” which put a focus on the potential benefits of research to the general “typical” population. As an example of this, one of the partners on this project is looking specifically at cellular events triggered by trisomy 21, “with the ultimate goal of advancing our understanding of Alzheimer’s disease.”  

Research that could result in improvements for treating and preventing Alzheimer’s disease are, of course, important to me. Probably to you too. But there is SO MUCH MORE to this project. By studying and opening “multi-dimensional datasets” Dr. Espinosa and his colleagues want to hone in on the diverse conditions associated with Down syndrome and reduce the negative impact on the life and lifestyle of each/every individual with Ds.

Since Trisomy 21 is not the singular cause of any of the conditions associated with Ds, studying these layers and how they intersect in such an ambitious sampling, can bring the most comprehensive answers to the questions parents, medical professionals, self-advocates and advocates need.

Are you ready for more? Or Are your eyes glazing over? Let’s wrap up with the call to action and then take a break. How can you get involved? Remember those 1000 samples needed? Marcus and I have an appointment to give, do you want to, too? Here’s where to start to read more:

and here’s where to start to contact the team and make an appointment:

Can’t get to Denver but you want to support this project? Free and still important way – Sign this petition to the NIH:

And, truth is, there is no mission without money, a donation to The Global Down Syndrome Foundation will support this project:

OK! Let’s break for now and let some of this settle in. As I’ve promised many a time before and am promising again, Stay Tuned