image: Kristian Strømgaard, Univ. of Copenhagen
Credit: Kristian Strømgaard and Univ. of Copenhagen
Mill Valley, CA – July 3, 2025 – The SynGAP Research Fund dba Cure SYNGAP1 (SRF), a 501(c)(3) organization, has awarded a $74,851 grant to Prof. Kristian Strømgaard, Ph.D., at the University of Copenhagen. This prestigious grant, funded through the Orphan Disease Center’s Million Dollar Bike Ride (MDBR) program, supports a collaboration between the Strømgaard Lab and Neurophase Therapeutics, an academic project incubated at the BioInnovation Institute (BII) in Copenhagen. Together, they aim to investigate the impact of disease-related mutations in SYNGAP1 on the formation of biomolecular condensates and to develop novel therapeutic compounds that restore healthy condensate function.
Biomolecular condensates, which are formed through liquid-liquid phase separation, play a critical role in organizing and regulating proteins within the postsynaptic density (PSD) of neurons. SYNGAP1, one of the most abundant PSD proteins, is essential for synaptic signaling and brain function. Mutations in SYNGAP1 disrupt the formation and dynamics of these condensates, leading to severe neurological symptoms such as developmental delays, epilepsy, and intellectual disability. By studying these disruptions, Prof. Strømgaard’s research aims to develop condensate-modifying compounds that restore normal function. This project combines cutting-edge science with a translational approach, offering new avenues for therapeutic interventions.
Why We Supported This Project
At SRF, we strive to support research that addresses the underlying causes of SYNGAP1-related disorders (SRD) to create meaningful improvements for patients and their families. This project embodies that mission by exploring how SYNGAP1 mutations disrupt biophysical dynamics found in the postsynaptic density and developing innovative therapies to restore proper function. The goal is to find medications targeting these disruptions to potentially improve quality of life for SRD patients by reducing seizures and/or improving cognitive and developmental outcomes. This gives new hope for a community with no approved treatment options specifically for SYNGAP1 haploinsufficiency, the root cause of SRD.
Insights from SRF and Research Partners
“The Strømgaard lab is world class. We first learned of them from our friends at the DLG4 Shine Foundation. We believe that by leveraging existing expertise in the PSD & global collaborations this work may move towards both a better understanding of SYNGAP1 & potential therapeutics in record time. Further, I expect that this work will continue to excite and catalyze the European SRD patient community,” says Mike Graglia, Founder & CEO of the SynGAP Research Fund.
“This is a completely different approach than any we have funded before. We are lucky to have biophysicists interested in SRD and SYNGAP1, and are eager to follow their progress,” says Kathryn Helde, PhD, Chief Scientific Officer for SynGAP Research Fund.
Prof. Kristian Strømgaard expressed his enthusiasm for the grant and the opportunity to advance research on biomolecular condensates in SRD: “We are very honored that our research project on biomolecular condensates got recognized by the SRF and to receive this generous grant from a patient organization. In the very beginning, this research was inspired by our close collaborator, Prof. Mingjie Zhang (SUSTech, Shenzhen, China) who initially revealed the phenomenon of biomolecular condensates at the postsynapse and their potential involvement in disease mechanisms.
“Having conducted several years of research on PSD-95, that was an extremely fascinating finding for me. At the same time, it brought a great challenge and novel concept on how to think about general synaptic architecture and function. But, of course, coming from the applied pharmaceutical field, there was an inherent attraction to exploring condensates as a new drug target and developing new ligands and compounds which can modulate them. While we have an in-depth knowledge about the PSD95 protein, its epitopes and interactome, we gain a great overall knowledge about condensates by tackling the role of SYNGAP1 and its aberrant function in clinical conditions.
“Because disease-mutations in genes encoding both proteins can lead to a rather similar and overlapping disease spectrum in patients, it makes it even more intriguing to explore them together and advance our current understanding. Generally, it is amazing to see how the research awareness for this newly emerging field is continuously expanding and to witness the change in the scientific community about this phenomenon.”
Kim Le, PhD, Neuroscientist at Neurophase and part of the BioStudio Program at the BioInnovation Institute, shared her enthusiasm for the collaboration and its potential impact: “We are excited for the research project on the disease-related SYNGAP1 mutations which has been granted to the Strømgaard lab, and we look forward to applying the gained knowledge when testing our condensate-modifying compounds in relevant disease models. As a young team of scientists, it is a great privilege to be part of the BioStudio Program and to work alongside Kristian and his research group from the University of Copenhagen. The direct knowledge transfer from Kristian’s group of the basic science underlying postsynaptic biomolecular condensates, as well as their experience in drug design allowed us to kickstart Neurophase Therapeutics. Essentially, the collaboration enables us to focus on our peptide-based drug discovery approach and translate the basic science into preclinical avenues through innovative solutions.
“Besides the scientific part, we work hand in hand with clinical and entrepreneurial key leaders and do our due diligence to transition from an early-research project into a viable spin-out that can develop novel therapeutics for neurological diseases. For the future we would be looking very much forward to building a close collaboration with the SRF and its patient community to gain invaluable insights that help us deliver medical improvements to patients with SYNGAP1-related disorders.”
Family Donations Make Progress Possible
This grant was made possible through the Million Dollar Bike Ride (MDBR), an annual fundraising event organized by the Orphan Disease Center at Penn Medicine. The MDBR program brings together patient advocacy groups to raise funds for rare disease research. Since its inception, it has contributed millions of dollars toward groundbreaking research for rare conditions like SYNGAP1-related disorders.
Two families who have participated in the MDBR shared their experiences. Andra Fox, mom of Reagan, said, “I first heard about the Million Dollar Bike Ride in the weeks after my daughter was diagnosed with SYNGAP1 in the fall of 2023. Since both my husband and I enjoy biking, we signed up and planned to ride with our Syngapian and her brother in the bike trailer. We had a beautiful day for the ride, and Penn Medicine and the Orphan Disease Center did an excellent job organizing this event and making it a positive experience. I found fundraising and the ride itself to be meaningful and look forward to doing it again next year.”
“What impacted us even more than the fundraising and the event itself was the experience of walking into a room of strangers and feeling the instant connection as parents of Syngapians,” she added. “I felt it in the way they interacted with my daughter, the questions they asked, and in the stories and laughter we shared. As I continue to grieve this diagnosis for my daughter, I am grateful for the reminder that I am not alone. It’s beautiful to see the support of the SYNGAP1 community, where I have met incredibly kind people. I’m also grateful to the SynGAP Research Fund for their continued efforts and advocacy for all families affected by SYNGAP1.”
The Albrecht family, consisting of Justin, Ashley, Jack, and Harper, also commented on MDBR. “When Harper received her SYNGAP1 diagnosis, our family had so many questions,” they shared. “Thankfully, we were able to connect with the SynGAP Research Fund (SRF), which provided invaluable resources to navigate this journey. Harper’s diagnosis came shortly after her second birthday, as we noticed significant delays in her motor and verbal milestones.”
They added, “Through SRF, we feel as if we’ve been given an incredible opportunity to connect with other families who share our experience. The Million Dollar Bike Ride allowed us to fundraise while meeting others who truly understand our challenges. Thanks to SRF, we have participated in critical research studies at Children’s Hospital of Philadelphia, attended the annual conference, and gained access to essential knowledge about Harper’s condition. Most importantly, we have found a community of support that makes all the difference.”
“The UPenn Orphan Disease Center and the grant matching opportunity is a multiplier to bring cutting edge science opportunities to the forefront to help advance SYNGAP1 science and prepare for clinical trials,” says Aaron Harding, the SRF Team Captain. “What’s exciting about the weekend is bringing SRF families and friends together with a purpose. The after-after party at Prosser’s home, Team LuLu (STXBP1), and the CHOP Clinical Team is a celebration of connecting, knowing everyone is in it to improve the quality of life of our children.”
About the Strømgaard Lab
The Strømgaard lab at the University of Copenhagen specializes in Chemical Neuroscience and Protein Engineering, focusing on the molecular mechanisms of synaptic signaling and the development of innovative therapeutic strategies. With expertise in studying the postsynaptic density (PSD) and biomolecular condensates, the lab aims to unravel how protein interactions and phase separation contribute to neurological disorders, including SYNGAP1-related disorders. Known for its translational approach, the lab has advanced research breakthroughs, such as the development of AVLX-144, a PSD-95 modulator currently in clinical trials, bridging the gap between fundamental science and real-world therapies.
About Neurophase Therapeutics
Neurophase Therapeutics, incubated at the BioInnovation Institute (BII) in Copenhagen, is pioneering research into biomolecular condensates and their role in neurological disorders. Founded by Professor Kristian Strømgaard under BII’s BioStudio program, Neurophase focuses on understanding how disruptions in condensate dynamics, caused by genetic mutations like those in SYNGAP1, contribute to synaptic dysfunction. By developing condensate-modifying compounds (c-mods) to restore healthy protein organization within the postsynaptic density (PSD), Neurophase is translating cutting-edge molecular research into innovative therapeutic solutions for rare neurological conditions.
About the Million Dollar Bike Ride (MDBR)
The Million Dollar Bike Ride (MDBR) is an annual rare disease fundraising event organized by the Orphan Disease Center at Penn Medicine. Each year, patient advocacy groups raise funds, which in the past were matched dollar-for-dollar by the Orphan Disease Center to support rare disease research grants. Since its inception, the MDBR has raised over $18 million, funding 106 research projects across 90 rare diseases.
SRF has participated in the MDBR for multiple years, raising funds to accelerate SYNGAP1 research. Through the generous support of family donations and community fundraising, SRF has been able to award grants like the one supporting Prof. Strømgaard’s research on biomolecular condensates.
About SYNGAP1-Related Disorders (SRD)
SYNGAP1-related disorders (ICD-10 F78.A1) are a rare genetic disorder caused by variants on the SYNGAP1 gene that reduce SYNGAP1 protein levels. SRF has identified over 1,636 patients to date, and the number grows weekly. This protein acts as a regulator in the synapses (where neurons communicate with each other). When SYNGAP1 protein levels are too low, we see an increase in excitability in the synapses making it difficult for neurons to communicate effectively. This leads to many neurological issues seen in SYNGAP1 patients.
Symptoms of SRD include primarily neurological issues including autism spectrum disorder (ASD), intellectual disability, epilepsy, hypotonia (low muscle tone), gross and fine motor delays, global developmental delay, and visual abnormalities such as strabismus (crossed eyes) as well as gastrointestinal challenges and disordered sleep.
About SRF’s Seven Scientific Programs
SynGAP Research Fund has seven scientific programs. These programs reflect SRF’s urgency to develop disease modifying treatments. These include the following:
- BTS – Basic and Translational Science
- Purpose – Drug Repurposing
- SMART – SYNGAP1 Missense Analysis, Research & Therapeutics
- SBOM – SYNGAP1 Biomarkers & Endpoints
- Facilitate – Develop and Share Research Tools and Reagents
- SRDC – SYNGAP1-Related Disorders Characterization
- ProMMiS: Prospective Multidisciplinary, Multisite Study for Clinical Excellence – Natural History Study at Multidisciplinary Clinics
This grant falls into the BTS program. Basic Science reveals what goes wrong in tissues and cells when a SYNGAP1 gene is broken. Translational Science is the designing and testing of different types of medicines for SRD. SRF has funded over $1.7M in BTS.
About the SynGAP Research Fund
The mission of the SynGAP Research Fund (SRF) dba Cure SYNGAP1 is to improve the quality of life for SYNGAP1 patients through the research and development of treatments, therapies, and support systems.
SRF was founded in the US in 2018 as a 501(c)(3) US public charity. There are sister organizations founded by local families in the UK in 2020, Europe (the Netherlands) in 2022, as well as both Australia & Latin America (Colombia) in 2023. Completely family-led, SRF is a leading funder of SYNGAP1 research having committed over $6.2 million in grants as of the end of 2024.
SRF’s grant program awards one or two-year grants to investigators, physician residents, and clinicians interested in studying SYNGAP1. SRF’s mission is to accelerate the availability of safe and effective treatments that meaningfully modify SRD to reduce suffering for patients and their families. Current funding priorities include essential milestones for clinical trial readiness. You can learn more about SRF and their accomplishments by reading their current Impact Report.
For more on SRF, visit curesyngap1.org or follow @cureSYNGAP1 on LinkedIn, YouTube, Instagram, Facebook, TikTok, or X.
SRF is a member of FasterCures, COMBINEDBrain, Global Genes Foundation Alliance, Everylife Foundation Community Congress, Epilepsies Action Network, Personalized Medicine Coalition, Rare Epilepsy Network, Epilepsy Leadership Council, Alliance for Genetic Etiologies in Neurodevelopmental Disorders and Autism (AGENDA), California Action Link for Rare Diseases, American Brain Coalition, Genetic Alliance UK, Rare Disease UK, Syndromes Without a Name (SWAN UK), Jumpstart Program, Patient Worthy, Autism Brain Net, Innovation and Value Initiative, Rare Disease Diversity Coalition, Cambridge Rare Disease Network, Breaking Down Barriers, Rare-X, Mencap, IndoUSRare, The World Orphan Drug Congress, and Research America.