ONCE UPON A GENE - EPISODE 041 - Time is Brain: SYNGAP Research Fund with Mike Graglia
Bo Bigelow and Daniel DeFabio have started a TV channel called The Disorder Channel where you can see all their rare stories in one place. You can access the channel with a Roku or Amazon Fire TV Stick. I had the honor and opportunity to narrate one of these films, The Foundations of Rare: The SYNGAP Research Fund and that’s how I connected with my next guest.
Mike Graglia is a dad on a mission. His son is one of around 600 patients born with SYNGAP1, a rare neurological disease. Like many other rare disorders, like CTNNB1, SYNGAP1 affects the production of a protein. It's considered a spectrum disorder because all patients aren't affected the same way or to the same severity. After attending a Global Genes conference, Mike and his wife Ashley were inspired to turn hope into action and they founded the SYNGAP Research Fund. Their sole mission is funding research science for SYNGAP1.
EPISODE HIGHLIGHTS
Can you tell us about Tony's rare disease and how it affects him?
Tony has a SYNGAP1 mutation, affecting about 550 kids in the world that we know about. The gene was first discovered 20 years ago and the first diagnosis came 10 years ago, so most patients are under 10. SYNGAP1 is one of the many vital proteins in the brain and kids with SYNGAP1 have half as many proteins as they need. One copy of their genes has a typo and doesn't produce the protein. Tony has autism, sleep disorders, behaviors, seizures and intellectual disability.
When did you get Tony's diagnosis?
Tony has a long list of diagnoses. SYNGAP1 kids either show up shortly after the age of 1 if they have severe delays and good doctors who perform genetic testing or at the age of 3 or 4 when they start having seizures. When Tony was 3, his delays were undeniable and we started therapy and we started seeing seizures, which led to an epilepsy diagnosis and then genetic testing. That's when we realized Tony had a SYNGAP1 variant.
When did you and Ashley decide to take action and do something when no one else was?
We were introduced to Daniel Lowenstein who is the Vice Chair UCSF. He was patient with us, sending us to people he's worked with like Annapurna Poduri at Boston Children's who runs epilepsy genetics and Rick Huganir, an anchor scientist for our community and the Head of Neuroscience at Hopkins. We learned from them that SYNGAP is important and that we were lucky as a community to already have strong scientists. There was a lot of good research happening, a lot of open questions and that science was changing really fast. It was reasonable to hope that something could come along in a time frame that mattered to Tony. I wanted science to be working on a way to help Tony. Ashley and I decided to start a fund focused on investing in science. There were already smaller advocacy groups, but none funding the science.
Can you tell me about your mission of collaboration, transparency and urgency?
Collaboration is about working together. We're aware that even if we raise $1-2M, it's not enough and we have to work across the parents community, scientific industry and industry to get this done. Collaboration has to be at the heart of what we do every step of the way. Transparency is about sharing information because you can't keep up in this highly-complicated space if you're not sharing as much as possible. Everything we can share is on our website for everyone's benefit. Urgency is simple- time is brain. Tony is 6 and I started this when he was 4. What I'm hearing is that we may have therapies by the time he's 11. Time is brain and we cannot waste time.
What would you tell a parent who is motivated and inspired to do something like what you're doing?
The smartest thing Ashley and I did was to ask a lot of questions. Decide who your team is going to be and who you can learn from. Bring your community along and encourage them to support funding. Keep asking questions and keep building a team that can help get things done. Your energy and time is precious, so don't invest either until you understand how it's going to make a difference.
LINKS AND RESOURCES MENTIONED
SRF - SynGAP Research Fund, Inc. YouTube
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