We would like to thank the following individuals for their contributions to this blog – Craig Bower, Kathryn Helde, Suzanne Jones, Beata Tarasiuk, Zoe Bailey, Rainy Schlosser, and Jo Ashline. To read more about the study and to sign up, please click the button below:
Parents and caregivers thrust into the world of rare disease after a SYNGAP1-related disorders (SRD) diagnosis begin their journey by searching for answers, eventually landing upon SynGAP Research Fund a parent-founded, family-led community laser focused on funding critical research to find successful treatments and a cure. It’s not long before everyone is asking the same question: “Beyond fundraising, what else can I do to help us get there faster?” And quite literally, it’s the Syngapians who hold the answers. By donating blood and other tissue samples from their loved ones with SRD – as well as siblings and parents – SRF families are making vital contributions towards scientific breakthroughs for SRD patients.
The Next Question – “How?”
Several years ago, SRF was exploring the logistics of setting up its own biorepository and discovered the process to be complicated and expensive. After diligent research and carefully weighing all of its options, SRF joined COMBINEDBrain, a super-group run by Terry Jo Bichell, PhD, who founded the non-profit in 2019 with a mission “devoted to speeding the path to clinical treatments for people with rare genetic neurodevelopmental disorders by pooling efforts, studies, and data”.
COMBINEDBrain (Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders) is systematically solving the most important pinch points for Patient Advocacy Groups interested in research and development of treatments for their particular population. For the SYNGAP1 community, this provides storage of and access to invaluable biological samples taken during COMBINEDBrain collection events. Samples are sent to the biorepository and kept for SRF’s purposes. SRF “owns” the samples, and nothing can be done with them without consent. SRF’s Chief Scientific Officer, Kathryn Helde, PhD, decides which studies to be part of, based on SRF’s goals and the study opportunities that arise. SRF has quarterbacked its own research, looking for proteomic biomarkers in plasma. The results will be available in summer 2025.
A Critical Resource
The COMBINEDBrain Biorepository is a critical resource for accelerating SYNGAP1 research. By collecting biological samples from SRD patients and their same-sex relatives, researchers gain valuable data to explore potential biomarkers. Typical sample collection at a Roadshow is blood, urine, and nasal swab. The biorepository staff can also coordinate samples from any other tissues and cerebrospinal fluid (CSF) during an elective surgical procedure. These samples are critically important; without them, researchers cannot effectively study SYNGAP1 or develop potential treatments. The biological materials provide the foundation for understanding the disease’s biology, refining diagnostic tools, and guiding the development of targeted therapies. While biomarkers for SRD have yet to be validated, developing one or more molecular biomarkers is a standard goal to have in place for future clinical trials.
Prioritizing the Biorepository
Helde explains the urgency and importance of biorepository donations:
“Each patient holds precious insight into SRD in their tissues. Since every patient is unique, more representation in the biorepository is better. Every new patient, every family-matched control, and every yearly sample holds the possibility of a more complete foundational understanding of SRD. Whether you can donate once or yearly, I encourage everyone to consider whether they can get to one of the Roadshow dates.”
The COMBINEDBrain Roadshow makes it easy for families to contribute by bringing the biorepository collection process to their local communities. With clinicians traveling to collection sites across the country, families have the opportunity to support critical research without traveling far. This makes it more accessible to participate in this impactful initiative.
Since SRF is a member of COMBINEDBrain, our community is welcome at any of the Roadshow sample collection events, regardless of the rare disease host at any given location. For instance, the Hereditary Neuropathy Foundation is hosting the first Roadshow event of 2025 in Nashville, Tennessee from April 24th through April 25th. SRF families able to attend will have their samples collected and added to SRF’s storage at the biorepository.
SYNGAP1 patients are encouraged to donate blood samples annually since changes occur over time; regular yearly samples can help researchers understand how Syngapians are changing. For siblings, a total of two donations is all that is necessary, and parents need only donate samples once.
This collaborative effort between researchers, clinicians, and families creates a pathway toward better understanding SRD and developing interventions that can improve the lives of those affected.
The Importance of Donating – The Bower Family
Craig Bower, an SRD parent, shares why it was important to donate his son Camden’s samples, and his hopes for scientific breakthroughs for his child and others living with SRD:
“When Camden was diagnosed with SYNGAP1, we knew that being open about his condition and contributing to research would be our priority. The COMBINEDBrain Biorepository offers an incredible opportunity to do just that. By collecting samples from Syngapians and their same-sex relatives, researchers gain access to invaluable resources that drive discovery forward.
“For us, it’s simple: the more data researchers have, the more they can learn. The larger the participant pool, the more powerful the findings become. By contributing Camden’s samples, we feel his story and his future are represented in ongoing research. Most importantly, we know that our participation can help hundreds, even thousands, of Syngapians who will follow in his footsteps.
“The dedication of doctors and researchers in this fight cannot be overstated. These professionals have committed their lives to helping children like Camden, many of whom they’ve never met. Sharing his medical history and samples is the most meaningful “thank you” we can offer, knowing it supports the life-changing work of these experts.
“To any parents considering participation, I understand the challenges. Traveling with a Syngapian is not easy, and the thought of a blood draw can be overwhelming. However, Camden continues to surprise us with his patience, and the clinicians made the entire process fun for him. With so many collection sites available across the country, we’ve had nothing but positive experiences with the caring professionals we’ve met.”
The Importance of Donating – The Jones Family
Parent and SRF Board Chair Suzanne Jones also knows the importance of donating her daughter Jansen’s samples and found the experience to be streamlined and well-organized, with Jansen’s well-being and comfort the main priority of the staff.
“Finally uncovering what ailed Jansen just before her eleventh birthday spurred us to action. Instead of continuing to watch our daughter struggle and decline, we had answers. The diagnosis of SYNGAP1 has driven us to join in SRF’s efforts to improve the trajectory of both her future and those of all Syngapians.
“Thanks to Mike Graglia’s SynGAP10 podcasts, we were aware that the COMBINEDBrain Roadshow would be in Atlanta in tandem with another rare disease’s conference. All I had to do was note the date on my calendar and email SRF’s Chief Scientific Officer, Kathryn Helde, asking to be scheduled. Shortly before our appointment, COMBINEDBrain representatives reached out to me with logistical details. Jansen and I arrived at our appointment at a local hotel right on time despite the onset of Tropical Storm Helene! Since I had forgotten to complete the paperwork required to participate (I recommend doing this before you arrive), a friendly COMBINEDBRain employee entertained Jansen while I worked with another.
“Jansen had her fill of stickers, removable tattoos, and toys! Providing our urine and blood samples took minutes. Then Jansen had a finger prick, and we were done! I do have some surveys to complete at home, which were auto generated and emailed to me as I answered questions on the electronic paperwork when signing up.
“Our visit to the COMBINEDBrain Roadshow was easy and fun for Jansen. She loves being the center of attention, and the people in the room with us were so sweet with her. I love feeling like we have contributed to research efforts. I know that the time I spend on SRF’s initiatives like sample collection, studies, fundraising, and the like is crucial to helping my daughter and others afflicted with SYNGAP1. As far as I’m concerned, there’s nothing more important.”
Advancing SYNGAP1 Research
The COMBINEDBrain Biorepository is a powerful tool for advancing SYNGAP1 research, and we are committed to contributing not only for Camden but for the future of all children affected by SYNGAP1. Each family that participates plays a crucial role in identifying biomarkers that can shape the treatment landscape for our children.
To date, COMBINEDBrain has successfully gathered over 160 samples from 71 Syngapian families, underscoring our community’s commitment to research.
We invite all families to join the 2025 Roadshow and contribute to this important cause. Together, we can lay the foundation for future clinical trials and new therapies.
2025 COMBINEDBrain Roadshow Dates and Locations
- April 24-25 Nashville, TN – Hereditary Neuropathy Foundation
- June 14-15 Westminster, CO – Coalition to Cure CHD2
- June 18-21 St. Louis, MO – United Mitochondrial Disease Foundation
- June 27-28 Phoenix, AZ – Prader Willi Syndrome
- July 10-12 Boston, MA – Med13L Foundation, CTNNB1 Connect & Cure
- July 18-19 Denver, CO – CSNK2A1 Foundation
- July 19-20 Westminster, CO – STXBP1 Foundation
- July 19-20 Windsor Locks, CT – The Stiff Person Syndrome Research Foundation
- Sept/Oct TBD Philadelphia, PA – KCNQ2 Cure Alliance
- December 4-5 Atlanta, GA – SRF, Cure GABA-A Variants, SLC6A1 Connect
As we share our experiences, we extend our deepest thanks to the families who have already participated in sample collection. Your involvement is invaluable in pushing forward SYNGAP1 research and building a brighter future for all Syngapians. Together, we are creating a community of hope.
We invite you to join this collective effort—your participation is crucial in advancing biomarker discovery and transforming lives. Every sample donated gives researchers more insight, bringing us one step closer to breakthroughs that will make a lasting impact. Let’s continue this vital work together, united in our dedication to brighter tomorrows for all those affected by SYNGAP1.
More Quotes from our SRF Families and COMBINEDBrain Participants
“That was the best blood draw in my life! Not only did Kasia—my 6-year-old daughter with SYNGAP1—donate her blood so her particular variant can be studied, but also my 2-year-old wild type little baby helped her older sister by donating her blood to science. We are proud to be contributing to a cure for SYNGAP1 and help our daughter and all SYNGAP1 families in the world.” – Beata Tarusiak, SYNGAP1 Parent and SRF Volunteer
“My husband and I, and both our Syngapian daughter (Kaia) and neurotypical daughter, all donated samples while at the 2024 SYNGAP1 Conference in Los Angeles. We know it’s critical for research, which will bring us closer to a cure. The process was made so simple by staff who coordinated things and everyone was extremely patient and kind. In the big picture, it was minimal effort with the possibility of huge returns!” – Zoe Bailey, SYNGAP1 Parent and SRF Volunteer
“Our son Andrew was diagnosed with SYNGAP1 at age 16, and is 23 now. After many years of dead ends, we feel fortunate to finally have the right diagnosis, and be able to participate in the search for treatments for him and fellow SYNGAP1 patients. During the 2024 SYNGAP1 Conference in LA, both Andrew and my husband donated blood samples with COMBINEDBrain. The process was made simple and easy with a well-informed and patient staff, kind and compassionate phlebotomists, and a collaborative sense of community among the other families, knowing we were all there for the same reason. It felt incredibly empowering to be able to do something so tangible towards helping our son.” – Jo Ashline, SYNGAP1 Parent and SRF Volunteer
“We are so grateful for COMBINEDBrain. They were so kind and patient with Hope and me. Both Hope and I are hard sticks, but they took their time and got Hope on the first try. We are so fortunate that they came to us and joined our conferences, making it easy to participate in their studies.” – Rainy Schlosser, SYNGAP1 parent and SRF Volunteer
