Let's talk about Austria, shall we? Maybe your knowledge of that particular nation comes from the film The Sound of Music. Or Austria might make you think of the 80s pop stylings of Falco, the “Rock Me Amadeus” guy. Or perhaps you know the Austrian painter Gustav Klimt. I visited Austria just once, in college. I was living in France, but a friend of a friend was in Vienna for the year and so I took a train ride there. Just for the weekend. Hung out in a coffee shop, I remember. Saw an opera, I'm pretty sure.
But I’m writing about Austria today for a very specific reason. Not because of my sojourn there in the mid-90s. But because there's a lab there. And in that lab right now are 6 samples. Six of a certain kind of cell, called a fibroblast, grown from skin taken from six different patients. Those patients have Hao-Fountain Syndrome. One of the samples is from our Tess.
Those fibroblasts are there at the lab. In a liquid nitrogen tank. In Austria. Because we arranged for them to be delivered there. And that's because we are about to start a research project.
It's our foundation's first research project. We've been raising money for years. Years! You, Tess Army, have been a gigantic part of this. Writing checks. Donating online. Participating in Facebook fundraisers. Coming to our in-person fundraiser events. Hooking up your Amazon Smile to our nonprofit, so we get a donation every time you shop on Amazon. You have done these lovely and selfless things for nearly four years now, ever since we founded this organization in 2017 and started asking you to please fund research.
And the day has finally arrived for us to take those donations from you and use them to fund some research. Last fall we put out a request for grant proposals. The winning entry came from a woman named Gaia Novarino, PhD, along with her partner, a man named Carsten Pfeffer, also a PhD. They have a company they've founded together that's called Neurolentech.
Gaia is also a neuroscience professor at an international research institute. Close to Vienna, in fact. Only about 20 kilometers away. It's called IST Austria (The Institute of Science and Technology.) Gaia has a lab there, where they've got USP7 mice. Meaning the mice have been purposely grown to have Hao-Fountain Syndrome. It's called a mouse model, and it's what you do when you want to study a disease in an animal and try stuff out and make observations. The mouse isn't a human, but it mimics the disease enough that it helps. You can study an animal with a brain and make some conclusions about the disease.
So what is Neurolentech going to do with those 6 fibroblasts? What's the deal with the mice? And how are Gaia and Carsten going to help Tess and the other people who have Hao-Fountain Syndrome?
Well, they're gonna take the fibroblasts, and they're going to transform them into brain cells. Hold on to your seat here. This is so cool. It's like something out of a Marvel movie. Check this out: once the brain cells are made, they'll be identical to the cells in the patients' brains. So Tess's skin sample allowed them to grow that fibroblast, and once they transform that fibroblast into a brain cell, it'll be the equivalent of a cell in Tess's brain. They'll be able to study those brain cells. They'll compare them with brain cells they've generated from the patients' siblings who don't have the disease. And they'll test a bunch of drugs to see if any of them could be a treatment for Hao-Fountain. And with the mice, they'll study Hao-Fountain in them. Look at their behavior. Anatomy. Physiology.
This work will take two years. We're funding every aspect of it, and it'll cost $100,000 over those two years.
What this comes down to is understanding a lot more about what they call the mechanism of Hao-Fountain Syndrome. We have ideas about how the disease works. The systems, the pathways involved. But this will help us go a long way toward firming up those ideas and generating new ones as well. If all goes according to plan, in two years, we'll know tons more about how the disease works and what we can do to cure or treat it.
It's an odd thing. To get on a Zoom call with our two Austrian friends. We've never met them in person. Or shaken their hands. We did all of this meeting and learning and negotiating through computer screens. From separate continents. And we agreed to wire them a $100,000 grant and said: ok, go for it. Let's do this.
I'll take your questions now.
“Does this mean you should stop donating to our foundation?”
Good question. Great question. Glad you asked. No, it most definitely does not mean that you should stop donating. This is the beginning of our research. But it's hardly the end. Even if this work with the Austrians is a slam dunk in every possible way, there's much much more work to do. We're putting more pieces in place right now, this very minute, for additional projects. We'll be announcing another grant in the coming weeks, and we've gotta fund that as well.
Next question.
“If I'm a patient, how do I get involved in the research projects that are coming up?”
Another excellent question. Thank you for asking. The best way is to make sure that I have a valid email address for you. Valid means that you check that account fairly often. If you have a spam account, the one you give to the clerk at the checkout counter in a store when they ask if they can have your email, that's probably not the best address to share with me. When I need you--and that time is coming very very soon--I'll email you to let you know. My email is bo.bigelow@usp7.org. Email me there and make sure I have your email.
I think we have time for one more question. You, in the back. Go ahead.
“If I'm not a patient but I want to help, what are the best ways to do that?”
Great, I love where your head is at. I love the energy. Okay, so keep funding. Keep donating. That's key. You can do that online at usp7.org. You can also connect your Amazon account to this thing called Amazon Smile. It basically lets you select a nonprofit, ours is called Foundation for USP7 Related Diseases, and then whenever you shop, a portion of your payment will come to us. One crucial thing for this to work, you've gotta be activated for Amazon Smile every time you're shopping. A super easy way to know whether you're activated is if the web address starts with the word smile rather than the word Amazon. Another way to be sure is that you're seeing the Amazon Smile logo.
One final thing you can do to help us. Share our content as often as possible. I've been making this show for 324 weeks now. I blab about our disease all over the internet. All the time. And yet, there are still so. Many. People. Who don't know about USP7. Who have no idea that Hao-Fountain Syndrome is a thing. Just this week, I found these two papers by researchers in Korea and in those papers they were like, wow, Prader-Willi Syndrome and Schaaf-Yang Syndrome, so closely related those two diseases. And there's no mention of us or our disease, even though we are like sibling diseases to PWS and SYS, with the same pathway, crazy similarity in symptoms. Frustrating. So. Help us. Share our stuff. Make sure people know about our disease. Thanks, Tess Army. You guys are the best. I want to make it clear. We could never have gotten here without you. Never coulda funded these Austrian scientists. Never coulda been embarking on this research. We're grateful to you. I'll keep you posted on this project.