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2025 Year In Review

Dear GRIN2B Community,

2025 was a year of meaningful momentum and measurable impact for GRIN2B Foundation. Together with our families, donors, researchers, and partners, we expanded patient support programs, advanced research and clinical trial engagement, strengthened advocacy efforts, grew our global community, and increased funding for GRIN2B-focused research. We also reached important milestones by laying the groundwork for a new Center of Excellence and we expanded educational and awareness initiatives. The progress made this year reflects the power of collaboration and community. As we look ahead, we are incredibly excited about our 2026 plans, with our 4th GRIN2B Family & Research Weekend in Maryland this July, new research funding announcements, expanded family programs, and additional clinical and policy initiatives on the horizon – all aimed at accelerating progress and improving outcomes for GRIN2B individuals and their families.

Please consider getting involved in 2026. Whether it’s signing up for a registry or a research study, creating a fundraiser, sharing our resources, reading our newsletters or joining us in person at our Conference, every little bit helps move progress forward for GRIN2B individuals and families.

With hope,

Liz Marfia-Ash, Board President

Operational & Administrative 

  • Raised $230,863 in income.
  • Brought on three new Board Members, Aileen Lussier, Jeff Brown and Aubrey Schrock.
  • Brought on new Medical Advisory Board Member, Elisa Boschetti, MSc, PhD
  • Received $13,500 grant from TJX Foundation.
  • Received $5000 grant from Everylife Foundation for Rare Diseases.

Support 

  • Launched Welcome Packet for Newly Diagnosed Families.
  • Hosted 2 GRI Get Togethers in partnership with Cure GRIN Foundation (Texas & Australia).
  • Supported 11 families through our Patient Assistance Grant Program.
  • Private parent support group grew from 892 to 979 members, representing 57 countries.
  • 100 families completed our family registry on our website.
  • Hosted 2 webinars in our Mental Empowerment Webinar series.
  • 2 Board Members completed Child Neurology Foundation’s Family Support Training
  • Continued our Bee Connected Meetups for families to connect and learn about resources.
  • Sent 3 Care Packages to Hospitalized Patients.
  • Provided guidance to families re: signing up for registries, accessing the GRIN Portal, accessing resources and participating in clinical trials.

“Just wanted to say another huge thank you to the GRIN2B Foundation for funding a Head Pod for our son River through the patient assistance grant! It has been a huge help for River to have some extra support with his head to participate more in play activities and crafts. It allows him to work on head and neck control while being able to focus more on tasks, which has been amazing!”

-Kelsey Budesa

Awareness

Advocacy

  • Hosted 3 Advocacy Powerhouse webinars to amplify the voices of GRIN2B patients, empower families and caregivers with tools to effectively share their stories and engage with policymakers and stakeholders.
  • Signed 23 letters supporting critical rare disease initiatives.
  • Engaged directly with elected officials to advance policies that promote fair and timely access to diagnostic tools, treatment options, and sustained research investment for individuals and families impacted by GRIN2B.
  • Participated in legislative briefings and policy discussions to inform government leaders about the complex realities of living with GRIN2B Neurodevelopmental Disorder and the critical need for expanded public and private support.
  • Collaborated with peer rare disease organizations to advocate for broader genetic testing access and earlier identification, reducing the risk of prolonged diagnostic delays and misdiagnoses for affected families.
  • Elevated the GRIN2B community within national and global DEIA conversations, ensuring that neurodevelopmental rare diseases remain visible within broader equity, inclusion, and access initiatives.
  • Developed and distributed advocacy tools and educational resources to equip families to engage in state-level policy efforts, empowering them to champion accessible healthcare, services, and supports within their own communities.

Centers of Excellence

  • GRI Center of Excellence in Colorado saw 25 patients over 5 clinic days.
  • Finalized details for 2nd U.S. GRI Center of Excellence site – to be announced soon! 
  • Began early conversations with 2 additional hospitals for future Center of Excellence sites.

“Visiting the GRI Center of Excellence was one of the most reassuring and impactful experiences our family has had since receiving James Welton’s diagnosis in 2021. We were able to sit with a team of doctors who have devoted their time and expertise to GRI gene–related disorders, a level of dedication that made us feel truly heard, seen, and understood.”

-Amy Rocker

Clinical Trials

Research & Medical 

  • Hosted 3 Community Learning Webinars – two about the Beeline Clinical Trial and one about Biomarkers.
  • 8 GRIN2B patient samples collected for our biorepositories.
  • Finalized Strategic Research Plan & Funding Priorities.
  • Launched new Request for Proposals & reviewed grants for 2026 funding.
  • Continued to recruit families for our GRIN2B Disease Concept Study, in partnership with Combined Brain and University of Minnesota.
  • Began analyzing data from our Caregiver Priority Survey to determine what symptoms matter most to families. We expect to publish these results in 2026.
  • Continued to work with Duke University on the next phase of their Orca Study.
  • New Publication (with input from GRIN2B Foundation): The spectrum of communication abilities in children with twelve rare neurodevelopmental disorders: A qualitative study with caregivers
  • New Publication (with funding support from GRIN2B Foundation): Inhibition of GluN2B-containing N-methyl-D-aspartate receptors by radiprodil
  • Began to prepare an application to apply for a Listening session meeting with the FDA (in partnership with Cure GRIN Foundation).
  • Shared research opportunities with community – Ortas Toileting Survey, Quality of Life Impacts of Rare Epilepsy Affecting Patient and Family Life, University of Washington’s Stripes Study and the Combined Brain Biomarker project.
  • Participated in ​​Simons Searchlight’s “Shine your Searchlight” campaign to encourage families to join their GRIN2B registry.
  • Sponsored and Attended GRICON, hosted by Cure GRIN Foundation
  • Attended Global Genes Rare Drug Development Symposium.
  • Attended the National Organization for Rare Disorders Breakthrough Summit.
  • Attended Global Genes Rare Advocacy Summit and Health Equity Summit

“The at-home blood collection for Combined Brain was such a positive experience. The nurse was gentle, patient, and made Bianca feel calm and safe. What could have been stressful turned into a smooth, compassionate process that truly put us at ease. Knowing that this small step contributes to research that could change the future for Bianca and others living with GRIN disorders made the experience even more meaningful.”

-Kasia Dadej

 

GRIN2B Foundation has been able to support over $477,000 in GRIN2B research to date – and this amount is growing exponentially. Learn more about our funded research projects here – http://grin2b.com/awarded-grants/

If you are interested in learning more about the research process, we recommend you download the following toolkit from our partner, Global Genes – Rare Research Roadmap. Or you can learn about the Drug Development process through NORD’s Rare Disease Drug Development Course.

On the horizon for 2026

  • Host 4th GRIN2B & Family & Research Weekend in Bethesda, MD, July 17-19. Registration is open!
  • Host additional GRI Get Togethers (regional meetups) in partnership with Cure GRIN Foundation.
  • Announce Research Grant Funding – coming soon!
  • Announce Launch of our 2nd GRI Center of Excellence site – coming soon!
  • Attend Rare Disease Week on Capitol Hill and NIH’s Rare Disease Day Conference.
  • Celebrate GRIN2B Awareness Week, March 12-18. 
  • Re-open our Patient Assistance Grant Program in March.
  • Continue to work with Duke University on Phase 2 of their Orca (communications) Study.
  • Host more Bee Connected Meetups & informational webinars.
  • Host 7th Bee Active for GRIN2B Walk, Run & Roll Fundraiser in September.
  • Host a Listening Session with the FDA, in partnership with Cure GRIN Foundation
  • Continue to collaborate with GRIN clinicians, researchers and partner advocacy organizations.
  • Publish results of our Caregiver Priority Survey.

Get Involved in 2026!

  • Volunteer with us.
  • Make a donation. 
  • Volunteer for our Family & Research Weekend.
  • Sponsor our Family & Research Weekend.
  • Become a Corporate Sponsor. Email elissa.taylor-bustillo@grin2b.com.
  • Fundraise for us! So many people ask us about funding more research or additional Centers of Excellence, but we cannot do this without increased fundraising from our community.
  • Follow us on Facebook and Instagram.
  • Join our Family Registry.
  • Participate in research studies that are appropriate for your child/family.
  • Keep a look out for announcements about upcoming webinars and meetups!

Contact our Executive Director with any questions – elissa.taylor-bustillo@grin2b.com

Thank you!

We are grateful for the following organizations and families that donated $2500 or more in 2025.


Beth and Oliver Wright
Allen Industries of Georgia
Everylife Foundation for Rare Disease
GRIN Therapeutics
Longboard Pharmaceuticals
TJX Foundation
 

 

2025 Request for Proposals

GRIN2B Foundation is pleased to announce the availability of our seed grant program to encourage and support patient-oriented research on GRIN2B-Related Neurodevelopmental Disorder.

The program is open to applicants worldwide and will consist of one-year grants. We anticipate awarding up to 4 grants in 2025 in the amounts of $10,000 (2), $20,000 (1) and $50,000 (1). GRIN2B Foundation will cover 8% in indirect costs.

Grant Application Deadline: August 15th, 2025

Anticipated Award(s) Announcement: November-December 2025

APPLY HERE

From 2024 through Spring 2025, we partnered with Combined Brain to develop our first Strategic Research Plan. Thanks to the work done on our SRP, we have developed the following Research Priority Areas.

GRIN2B Foundation Research Priority Areas

Our research mission is to directly facilitate the development of treatments for GRIN2B Disorders through gaining a robust understanding of the natural history, biomarkers, and functional characterization of this condition with the goal of identifying specific therapeutic targets.. Examples are included below.

Natural History

  • Synchronizing data between existing registries and natural history studies
  • Incorporating data from clinical visits into the research natural history registry

Biomarkers

  • Acquiring EEGs from patients and analyzing for biomarkers
  • Biofluid biomarkers, including proteomics or metabolomics
  • Determining prevalence and presentation of autonomic dysfunction, and applicability as a biomarker

Functional Characterization

  • Reclassification of VUSs to determine eligibility for future clinical trials
  • Characterizing gain/loss of function, to determine eligibility for future clinical trials
  • Identifying genotype-phenotype correlations

Characterization of Animal Models

  • Thoroughly characterizing existing mouse models that do not yet have the basis of data needed for treatment development
  • Development of new mouse models, only if it can be justified that this new model will benefit the GRIN2B community in a way that an existing mouse model cannot.

Quality Improvement Related to GRIN2B

  • Quality Improvement Projects
  • PSDA Cycles to build consistency and efficacy across institutions.

Treatments

  • Preclinical work necessary to bring a therapeutic to the clinic
  • Clinical trials of new or existing (ex: L-serine, radiprodil) treatments

If you have any questions or concerns with the application process, please contact GRIN2B Foundation Program Manager, Ryan Barash at ryan.barash@grin2b.com.

2024 Year In Review

Dear GRIN2B Families, Friends and Supporters,

After completing our first 5 year Strategic Plan in 2023, we started 2024 with a renewed sense of energy and optimism. Our first goal was to expand our team. After recruiting two new board members, we took our biggest step yet and hired our first staff member, an Executive Director, Elissa Taylor-Bustillo. You’ll hear from Elissa below, but she has been nothing short of a miracle worker for our organization. While a nonprofit organization run by parent volunteers is certainly a noble cause, it’s not practical for sustainability. We are grateful to the generosity of the Wright Family for providing us the funding for our Executive Director’s salary. 

Thanks to Elissa’s expert guidance, we have restructured our board, created new volunteer opportunities and we will be unveiling new programming throughout 2025.

Though we did not fund any research grants in 2024, we, instead, conducted a deep dive into understanding the landscape of GRIN2B research, the work our partner organizations are doing and how we can best fill in the gaps. To better assess the needs of our community, we partnered with Combined Brain on the following initiatives: hosting our first Research Roundtable Meeting with 16 Researchers, creating a Caregiver Priority Survey completed by 100 GRIN2B families and started developing our first Strategic Research Plan. We are currently reviewing our Strategic Research Plan and the results of the Caregiver Survey to determine Research Priorities for our next research grant cycle.

We also partnered with Combined Brain and the University of Minnesota on a GRIN2B Disease Concept Model. This model is a formal framework that captures the relationship between symptoms, concerns, and impact on daily life based on qualitative interviews. This important work is being conducted by Genetic Counseling Student, Liana Cole and is open to families in the United States. Please sign up for this study! An engaged community that contributes to research is our surest path forward to achieving successful clinical trials. 

We continued to support the GRI Center of Excellence at Children’s Hospital Colorado in its second year, both financially and in an advisory capacity. We worked behind the scenes all year long to partner with a hospital on the East Coast to launch a 2nd GRI Center of Excellence site. Fingers crossed we’ll have an update soon!

Our biggest event of 2024 was hosting our 3rd GRIN2B Family Weekend in Aurora, Colorado with over 125 attendees from our family and research communities. Spanning 3 days, this was our most ambitious conference yet. We had a wonderful time connecting with researchers and families, hearing updates on all the research and clinical initiatives, hearing meaningful stories from families, sharing resources and strategies with each other and building connections. We look forward to hosting our next GRIN2B Family Weekend during the Summer of 2026!

2024 also saw us receiving exciting updates about clinical trials. GRIN Therapeutics announced positive topline results from their Radiprodil Trial with plans to launch a Phase 3 study in 2025 and finally expand to the United States. We also heard from Longboard Pharmaceuticals at our July Conference about their study to evaluate bexicaserin as a potential treatment for those living with developmental and epileptic encephalopathies.

We’ve made so much progress since my daughter was diagnosed 10 years ago when so little was known about GRIN2B. I’m so excited to see what’s in store for our community over the next 10 years.

Please take the time to read through all of our highlights from 2024 and our plans for this year. We are here to support each and every one of you and are happy to answer any questions. As a parent to a GRIN2B child, I fully understand how difficult it is to find the bandwidth to take on more responsibilities. But the truth is, we’re all we’ve got. No one is going to swoop in to save our kids. We can achieve great things if we all work together to create meaningful change for our loved ones with GRIN2B.

Our vision is a world where all GRIN2B families feel empowered and supported.

With hope,

Liz Marfia-Ash, GRIN2B Foundation Board President

Letter from the Executive Director

Dear GRIN2B Community,

As we move forward into 2025, I am profoundly humbled to reflect on the incredible progress and unity our GRIN2B community achieved in 2024. This past year was a testament to the strength and determination of patients, families, caregivers, and supporters like you, who inspire us to continue striving toward a brighter future.

I am truly honored to have been selected to help lead the helm of the GRIN2B Foundation. Together with our dedicated board, volunteers, and supporters, I’ve had the privilege of working to develop programs, activities, and support measures designed to advance equitable access to lifesaving diagnoses, treatments, and eventual cures for our patient community. This role is both a privilege and a responsibility, and I approach it with deep gratitude and commitment to each of you.

In 2024, we continued to prioritize patient and family support by expanding resources and offering new opportunities to connect and learn. Our biennial family conference, a highlight of 2024, brought us together to share experiences and foster a sense of belonging. These moments remind us of the power of community and the importance of amplifying every voice in this journey.

In research, we made significant strides by expanding participation in the patient registry and natural history study, both critical to advancing understanding and innovation for GRIN2B Neurodevelopmental Disorder. Additionally, we worked to ensure that healthcare providers are better equipped to deliver informed and compassionate care to our loved ones.

None of these accomplishments would have been possible without the steadfast support of our sponsors, donors, and volunteers. Your generosity has made this work possible and continues to lay the foundation for the breakthroughs we all hope to see.

As 2025 begins, we are excited to build upon this momentum. Our focus remains on expanding access to resources, advancing research, and ensuring the long-term sustainability of our mission. Together, we will continue to support one another, break down barriers, and create opportunities for every individual in the GRIN2B community to thrive.

Thank you for being an essential part of this journey. I am endlessly grateful for your trust and partnership as we work toward a future filled with hope, progress, and opportunity.

With heartfelt gratitude,

Elissa Taylor-Bustillo, Executive Director

GRIN2B Foundation

2024 Year In Review

Operational & Administrative 

  • Raised $233,952 in income.
  • Hired 1st Executive Director, Elissa Taylor-Bustillo, to lead and grow our impact. 
  • Brought on two new Board Members, Dan Reid and Travis Price.
  • Brought on one new Intern, Damaris Gonzales, to help with operational projects.
  • Developed new materials and a streamlined webpage for Volunteer opportunities with a goal of improving engagement and onboarding.
  • Re-structured Board Responsibilities.
  • Hosted Get Involved Webinar.

GRIN2B Family & Research Weekend

  • Hosted 3rd Conference in Aurora, Colorado, July 19-21, 2024
  • 228 attendees in person and virtual 
  • 30 families 
  • 24 Researchers, clinicians and medical professionals 
  • 21 presentations 
  • 18 GRIN2B individuals 
  • 9 patient blood samples collected by Simons Searchlight 
  • 8 patients participated in the Biogene Study with Dr. Caitlin Hudac 
  • 6 Travel Stipend grants were awarded to families
  • 5 countries represented 
  • 3 family stories shared 
  • 1 dance party 
  • Countless core memories created 

View recordings here: Day 1, Day 2, Day 3

Thanks to our event sponsors: GRIN Therapeutics, Simons Foundation, Autism Brain Net, Longboard Pharmaceuticals, Cure GRIN Foundation, Cure Epilepsy, Ultragenyx, Dearly Beeloved, Beth and Oliver Wright and Liz Marfia-Ash and Phil Ash 

“The GRIN2B Foundation Family Weekend is a must-attend event for any family affected by GRIN2B-related disorders. It provided us with hope, knowledge and a sense of belonging that we will carry with us long after the weekend is over.“

-GRIN2B Family & Research Weekend Attendee

Support 

  • Private parent support group grew from 809 to 892 members, representing 55 countries.
  • 103 families completed our family registry on our website.
  • Continued our Virtual Bee Connected Meetups for families to connect and learn about resources.
  • Provided 5 Patient Assistance Grants to families.
  • Sent 1 Care Package to a GRIN2B family.
  • Wrote a support letter to help a family obtain regional services.
  • Provided guidance to families re: signing up for registries, accessing the GRIN Portal, accessing resources and participating in clinical trials.
  • Hosted two Focus Groups with GRIN2B families to seek feedback on the development of our Welcome Booklet for new families. (coming soon!)

“We are extremely grateful to have been awarded a specialist pram through the Grin2b Patient Assistance Grant. This pram will ensure that India is able to enjoy family days out and will give us peace of mind that India is safe and comfortable whilst doing so. We are very lucky that the Foundation is able to support grants like this and we cannot thank them enough. India loves her new pram. Thank you so much for making this possible for her.” 

– India’s mom, Rose Marshall, Patient Assistance Grant Recipient

Awareness 

  • 18 teams participated in our 5th Annual Bee Active for GRIN2B Walk, Run & Roll, raising $73k.
  • March Awareness Week campaign: profiled 20 patients, shared 2 symptoms videos and shared graphics with facts & resources.
  • Created a new Awareness Video during March.
  • Featured in the following media: Today.com article, Global Genes’ Rare Daily blog and CheckRare video.
  • Provided Awareness resources to families: Google Slide Awareness Presentation for Schools, Awareness card and Coloring Sheet.
  • 3100+ followers on our public Facebook page. 
  • Created and sold our 2025 GRIN2B Calendar.
  • Continued fundraising partnerships with Billy Footwear and See’s Candies. 
  • Partnered with GRIN2B Mom, Sarah Nunnally, on her Honeybee Board Book. 

 

 

 

 

 

 

Advocacy

  • Signed 19 letters supporting critical rare disease initiatives, including a letter advocating for the renewal of the Pediatric Review Voucher program, which incentivizes the development of treatments for pediatric rare diseases and ensures continued access to life-saving therapies for children.
  • Met with lawmakers to advocate for equitable access to diagnostics, treatments, and research funding for our GRIN2B community.
  • Developed programming to amplify the voices of GRIN2B patients, empower families and caregivers with tools to effectively share their stories and engage with policymakers and stakeholders; this programming will be officially launching in 2025.
  • Attended legislative briefings to educate government representatives on the unique challenges faced by the GRIN2B community and the urgent need for increased support.
  • Partnered with other rare disease organizations to push for policies supporting expanded genetic testing and early diagnosis, helping to ensure no family faces delayed or incorrect diagnoses.
  • Increased our visibility in national and global diversity, equity, inclusion, and access (DEIA) efforts, ensuring GRIN2B Neurodevelopmental Disorder remains part of broader conversations about these integral priorities.
  • Created materials to provide families with resources to participate in state-level advocacy initiatives, empowering them to fight for accessible healthcare and services in their local communities.

“Finding a doctor who understands or knows about our son’s condition is hard. At the Center of Excellence we met with a whole team of caring individuals ready to give their support and expertise. They also worked to ensure we were connected to the right supports at home too. I am able to reach out anytime and they are quick to respond to any follow up concerns or questions. My family and I feel extremely blessed to be able to utilize the Center of Excellence for our son’s care.”

–  Austin’s Mom, Miranda D’Angelo

Research & Medical

  • Launched GRIN2B Disease Concept Study, in partnership with Combined Brain and University of Minnesota.
  • Developed our first Strategic Research Plan to guide GRIN2B research initiatives (still in progress).
  • Hosted 1st Research Roundtable Meeting in conjunction with our GRIN2B Family & Research Weekend.
  • Launched our Caregiver Priority Survey to determine what symptoms matter most to families.
  • Continued to support GRI Center of Excellence at Children’s Hospital Colorado in its 2nd year seeing patients.
  • Began preliminary conversations about launching a 2nd GRI Center of Excellence site. 
  • Hosted webinar on Clinical Trials FAQ’s.
  • 9 blood samples from GRIN2B patients were added to our biorepository through Simons Searchlight.
  • Shared research opportunities with community – GRIN Therapeutics Qualitative Study for Caregivers, Cincinnati Children’s Sibling Research Study, Combined Brain Biomarker project.
  • Participated in ​​Simons Searchlight’s “Shine your Searchlight” campaign to encourage families to join their GRIN2B registry.
  • Attended GRI Conference in London.
  • Attended the National Organization for Rare Disorders Breakthrough Summit.
  • Attended Global Genes Rare Advocacy Summit and Health Equity Summit
  • Continued to work with GRIN Therapeutics on outreach and feedback on their Radiprodil clinical trial.
  • Continued to work with Duke University on the next phase of their Orca Study.

GRIN2B Foundation has been able to support over $410,000 in GRIN2B research to date – and this amount is growing exponentially. Learn more about our funded research projects here – http://grin2b.com/awarded-grants/

If you are interested in learning more about the drug development process, you can take NORD’s Rare Disease Drug Development Course.

 

On the horizon for 2025

  • Finalize our Strategic Research Plan.
  • Attend Rare Disease Week on Capitol Hill.
  • Continue to work towards a partnership for a 2nd GRI Center of Excellence site.
  • Finalize our Welcome Booklet for New Families and translate into several languages.
  • Celebrate GRIN2B Awareness Week, March 12-18. Our theme is “Bee Aware & Take Action.”
  • Re-open our Patient Assistance Grant Program in March.
  • Open the next RFP Research Grant Cycle with new targeted priorities.
  • Continue to work with Duke University on Phase 2 of their Orca (communications) Study.
  • Host more Virtual Bee Connected Meetups & informational webinars.
  • Partner with Cure GRIN Foundation to host Regional Family Meetups.
  • Host 6th Bee Active for GRIN2B Walk, Run & Roll Fundraiser in September.
  • Continue to Collaborate with GRIN Therapeutics on the study design for the next phase of their Radiprodil Clinical Trial.
  • Sponsor and attend GRI Con (July 2025, hosted by Cure GRIN Foundation) and the GRIN Europe Conference (Nov 2025, hosted by GRIN Europe and GRI Italia).
  • Begin to engage with the FDA.
  • Begin working with the GRI Center of Excellence to compile evidence-based guidelines for treating patients with GRI Disorders.
  • Continue to collaborate with GRIN clinicians, researchers and partner advocacy organizations.
  • Early planning of our 2026 GRIN2B Family & Research Weekend, location tentatively on the East Coast.

Get Involved in 2025!

  • Volunteer with us.
  • Make a donation or sign up to become a monthly donor. 
  • Become a Corporate Sponsor. Email elissa.taylor-bustillo@grin2b.com.
  • Fundraise for us! So many people ask us about funding more research or additional Centers of Excellence, but we cannot do this without increased fundraising from our community.
  • Start planning your 2025 Bee Active for GRIN2B Event!
  • Follow us on Facebook, Instagram, Linkedin and YouTube.
  • Join our Family Registry.
  • Participate in research studies that are appropriate for your child/family.
  • Sign up for the GRIN2B Disease Concept Study if you haven’t already! (U.S. families only)
  • Keep a look out for announcements about upcoming webinars and meetups!

General inquiries & Fundraising – elissa.taylor-bustillo@grin2b.com
Research Studies and Registries – liz.marfia-ash@grin2b.com
Center of Excellence – donna.dunn@grin2b.com
Family Support / Patient Grants – brittaney.crider@grin2b.com 

Thank you!

We are grateful for the following organizations and families that donated $2500 or more in 2024.

Beth and Oliver Wright
Ila Goldstein
GRIN Therapeutics
Simons Foundation
Autism Brain Net
TJX Foundation
Longboard Pharmaceuticals

 

 

2023 Year In Review

Dear GRIN2B Families, Friends and Supporters,

2023 was a memorable year full of exciting milestones. We opened the first North American Center of Excellence for GRI-Related Disorders at the Children’s Hospital Colorado. After working hard for several years to develop this idea, it felt so good to see the clinic finally open last May and start seeing patients. We are proud to support this endeavor and hope we can eventually fund additional Centers across the United States.

The first commercial clinical trial for GRIN2B patients began enrolling patients in Europe. As we wait on FDA approval in the United States, we will continue to advise Grin Therapeutics on their clinical trial design.

Our Board of Directors worked hard to create our first 5 year Strategic Plan. This process included in depth surveys completed by our board and community, as well as several lengthy planning meetings where we evaluated our programs and initiatives and shared our goals for moving our organization forward. We are slowly but surely working through our tactical action plan to make our Strategic Plan a reality. 

Though we didn’t host an in-person conference ourselves in 2023, we were able to attend numerous conferences and meetups within the larger GRI community and Rare Disease spaces. Through these events, we were able to have fruitful conversations with families, researchers, clinicians and industry professionals. We are grateful for all the collaborations that come from attending these events. We really are stronger when we all work together on the individual pieces of the bigger picture.

And in the midst of everything, we also experienced devastating losses in our community. These tragedies remind us that there is still so much work to do for our community members in unraveling the mystery of GRIN2B. We simply don’t have the luxury of sitting back and hoping someone else will do something. Our community is too small. It’s up to each of us to make a difference and help our loved ones with GRIN2B. 

You don’t have to do it all. Just pick one thing to focus on if that’s all you can do. Join a patient registry. Fundraise. Participate in research. Watch a webinar. Attend our July Family Weekend in Colorado. Join a Meetup. 

Above all, we strongly encourage you to participate in research. An engaged community that contributes to research is our surest path forward to achieving successful clinical trials. Simply put, we need more data in order to move the needle.

Please take the time to read through all of our highlights from 2023 and our plans for this year. We are here to support each and every one of you and are happy to answer any questions. 

As always, we are committed to providing support and education to our GRIN2B families, promoting awareness of this ultra-rare disorder and funding research. Our vision is a world where every family impacted with a GRIN2B diagnosis feels empowered and supported.

With hope,

Liz Marfia-Ash, GRIN2B Foundation Board President

2023 Year In Review

Operational & Administrative 

  • Raised $203,508 in income.
  • Gathered data from two community surveys.
  • Developed our first Five Year Strategic Plan.
  • Developed a Corporate Sponsorship packet.
  • Began planning for 2024 Family Weekend Conference.

 

 

 

Support 

  • Private parent support group grew from 723 to 809 members, representing 52 countries.
  • 104 families completed our family registry on our website.

  • Continued our Bee Connected Meetups for families to connect and learn about resources.
  • Provided 7 Patient Assistance Grants.
  • Sent 3 Comfort Care Items to hospitalized patients.
  • Continued to support the GRIN2B family we rescued from Ukraine in 2022. 
  • Wrote a support letter for a family to help them obtain regional services.
  • Provided guidance to families re: signing up for registries and accessing the GRIN Portal.
  • Continued to develop our Welcome Booklet for new families. (coming soon!)
  • Developed Registry Info Sheet. 
  • Partnered with Mejo, a medical journal app specifically geared towards rare disease families. 
  • Created Amazon Gift Guide, with curated gifts for GRIN2B children. 

 

“The financial support provided has been instrumental in alleviating the burden of expenses associated with our son’s DMI (Dynamic Movement Intervention) intensive therapy. The impact of these intensives on Jack’s overall development has been remarkable. Thank you once again for your unwavering support” 

– Dianna, GRIN2B Mom, Patient Assistance Grant Recipient

 

Awareness 

  • 21 teams from 8 countries participated in our 4th Annual Bee Active for GRIN2B Walk, Run & Roll, raising $62k.
  • March Awareness Week campaign: profiled 18 patients, shared 2 symptoms videos and shared graphics with facts & resources.
  • Created a new Awareness Video during March.
  • Created a downloadable Awareness card for families.
  • 2700+ followers on our public Facebook page. 
  • Produced 1 new episode of Celebrating Rare: The GRIN2B Podcast.
  • Created and sold our 2024 GRIN2B Calendar.
  • Continued fundraising partnerships with Billy Footwear and See’s Candies. 
  • In lieu of Amazon Smile shutting down, we joined the Walmart Round Up program.

 

“This past May we visited the Center of Excellence at Children’s Hospital in Aurora. It was so nice to be able to walk into a place and not have to explain what genetic disorder our daughter had, they just knew everything, plus more! We walked away with more understanding and a sense of belonging to a whole community.” 

– Jelena, GRIN2B Mom

Research & Medical 

  • GRI Center of Excellence at Children’s Hospital Colorado began seeing patients in May.
  • Awarded $20k in research funding in partnership with Uplifting Athletes to Riley Perszyk at Emory University.
  • Hosted webinars on the Center of Excellence and Gain & Loss of Function Variants.
  • Shared research opportunities with community – Inchstones Project, GRI Faces Project, Combined Brain Biomarker project, Project Wellcast.
  • 3 blood samples from GRIN2B patients were added to our biorepository through Combined Brain.
  • Participated in ​​Simons Searchlight’s “Shine your Searchlight” campaign to encourage families to join their GRIN2B registry.
  • Added Dr. Scott Metrick, GRIN2B parent and retired Neurologist to our Medical Advisory Board.
  • Sponsored and spoke at Cure GRI Conference in Boston.
  • Sponsored and spoke at iGlur (Glutamate Receptor) Conference in Chicago.
  • Attended the National Organization for Rare Disorders Breakthrough Summit.
  • Joined Cure GRIN Foundation’s Research Grant Review Committee to determine future projects to fund.
  • Supported Cure GRIN’s application to the CDC for an ICD-10 code for GRI Disorders.
  • Continued to work with GRIN Therapeutics on outreach and feedback on their Honeycomb clinical trial.
  • Continued to work with Duke University on the next phase of their Orca Study.

GRIN2B Foundation has been able to support over $365,000 in GRIN2B research to date – and this amount is growing exponentially. Learn more about our funded research projects here – http://grin2b.com/awarded-grants/

If you are interested in learning more about the research process, we recommend you download the following toolkit from our partner, Global Genes – Rare Research Roadmap.

On the horizon for 2024

  • Host our 2024 GRIN2B Family Weekend July 19-21 in Denver, Colorado.
  • Coordinate first Research Roundtable to develop our Strategic Research Priorities (July 19th, 2024).
  • Investigate new hospitals to partner with for GRI Center of Excellence sites.
  • Expand our Board of Directors, and develop a plan to hire our first staff member.
  • Celebrate GRIN2B Awareness Week, March 12-18. This year’s theme is “Bee Aware & Take Action.”
  • Re-open our Patient Assistance Grant Program in March.
  • Announce our next Research Grant award.
  • Continue to work with Duke University on Phase 2 of their Orca (communications) Study.
  • Work through our tactical action items from our Strategic Plan.
  • Develop a Volunteer packet.
  • Finalize our Welcome Booklet for New Families and translate into several languages.
  • Host more Bee Connected Meetups & informational webinars.
  • Host 5th Bee Active for GRIN2B Walk, Run & Roll Fundraiser in September 2024.
  • Continue to Collaborate with GRIN Therapeutics on the study design for their Honeycomb Trial.
  • Begin to engage with the FDA.
  • Continue to collaborate with GRIN clinicians, researchers and partner advocacy organizations.

Get Involved in 2024!

  • Join a Committee.
  • Attend our 2024 GRIN2B Family Weekend in Denver this July. Registration info coming soon.
  • Make a donation. 
  • Become a Corporate Sponsor. Email fundraising@grin2b.com.
  • Fundraise for us! So many people ask us about funding more research or additional Centers of Excellence, but we cannot do this without increased fundraising from our community.
  • Follow us on Facebook and Instagram.
  • Join our Family Registry.
  • Participate in research studies that are appropriate for your child/family.
  • Keep a look out for announcements about upcoming webinars and meetups!

 

General inquiries & Conference Planning – liz.marfia-ash@grin2b.com

Center of Excellence – donna.dunn@grin2b.com

Family Support / Patient Grants – brittaney.crider@grin2b.com

Fundraising – fundraising@grin2b.com

 

Thank you!

We are grateful for the following organizations and families that donated $2500 or more in 2023.

Ila Goldstein
Dave Matthews
Beth and Oliver Wright

 

2022 Year In Review

Dear GRIN2B Families, Friends and Supporters,

GRIN2B Foundation Board of Directors

2022 was our biggest year yet! We were thrilled to connect in person at our July GRIN2B Family Weekend in Chicago and at our Bee Active fundraising events. We started laying groundwork for clinical trial readiness through the development of our Center Of Excellence, our partnership with Duke University on their Orca Communication Measure and, most excitedly, through our work with GRIN Therapeutics on the development of their Radiprodil clinical trial – the first commercial trial for GRIN2B patients. 2022 also saw us supporting families in familiar and unexpected ways. We supported and rescued a family from Ukraine, wrote letters of support for families in need of local services and we offered up an ongoing way for parents to connect through our Facebook group and our Bee Connected Zoom Meetups. 

For research, we continued our partnership with Dr. Stephen Traynelis, awarding his lab $25K to continue their translational work with GRIN2B variants and animal models that are directed toward assessing potential therapeutic strategies. We nominated Dr. Riley Perszyk from Emory University to receive a grant through the Uplifting Athletes program and were thrilled when Dr. Persyk was chosen. We are also working with our sister organization, Cure GRIN Foundation, to assess potential future research projects to co-fund.

Our mission is intentionally broad to meet the diverse needs of our community. After 5 years, we are incredibly proud of our growth, but regret that we are limited in the amount of projects we can take on and research we can fund. Sometimes, we have to say no to projects due to limitations of funding, time and manpower. Rest assured that all our choices and programs are deliberate based on feedback and survey results from our community.

We are committed, as always, to providing support and education to our GRIN2B families, promoting awareness of this ultra-rare disorder and continuing to fund research. 

If you are interested in helping our mission, we encourage you to get involved. Consider joining a committee, or let us know if you have a specific skill set and are willing to volunteer your time. But most importantly, just stay connected in whatever way works best for you – read our emails, follow us on social media and/or join our meetups and webinars.

Our passionate Board of Directors has historically driven the bulk of the fundraising for our organization. While our team remains dedicated to the cause, there is no question that in order to expand our research objectives, we desperately need more families to help drive fundraising. We cannot continue to make an impact without more support.

If supporting research and creating additional Centers of Excellence is important to you, please consider helping us fundraise. We’re happy to brainstorm with you – just reach out to fundraising@grin2b.com.

Please read our list of 2022 accomplishments below and let us know if you have any questions. We look forward to a bright and busy 2023!

With hope,

Liz Marfia-Ash, GRIN2B Foundation Board President

2022 Year In Review

Operational & Administrative

 

 

 

 

 

 

 

 

Support

  • Hosted GRIN2B Family Weekend in July with 25 GRIN2B families and 100+ attendees.
  • Launched Bee Connected Meetups for families to connect and learn about resources.
  • Private parent support group grew from 646 to 723 members, representing 50 countries.
  • 103 families completed our family registry on our website.
  • Coordinated resources and helped rescue a GRIN2B family out of Ukraine.
  • Provided 4 Travel Stipends for families attending our GRIN2B Family Weekend.
  • Provided 2 Patient Assistance Grants.
  • Sent 1 Comfort Care Item to a hospitalized child.
  • Wrote support letters for 2 families to help them obtain regional services.
  • Provided guidance to families re: signing up for registries and accessing the GRIN Portal.
  • Family Advisory Committee began working on a Welcome Booklet for new families.

 

“Our son Alex is 15 and has refractory epilepsy that is resistant to treatment. We decided to seek help from the Neurology team at BC Children’s Hospital in Vancouver. We applied for a Patient Assistance Grant to help us with the costs associated with traveling. We have been so grateful for all the support and guidance we have received from the GRIN2B Foundation.” – The Caleb Family

“I am sincerely grateful to all of you for your help and support. Thanks to GRIN2B Foundation and everyone who cares, we are alive and well. In a difficult period when Russia came to kill and torture in our home, GRIN2B Foundation came to our rescue. The whole family was rescued and supported, evacuated to a safe place. With the financial support, we were able to buy food and medicine and survive a difficult period in Poland.” – Nadezhda Bilous, Ukrainian GRIN2B Mom 

 

Awareness 

  • 19 teams from 3 countries participated in our 3rd Annual Bee Active for GRIN2B Walk, Run & Roll, raising $46k.
  • March Awareness Week campaign: profiled 22 patients, shared 2 symptoms videos and shared graphics with facts & resources.
  • Created a new Awareness Video during March.
  • 2300+ followers on our public Facebook page. 
  • GRIN Therapeutics produced a series of videos featuring our community during the GRIN2B Family Weekend. 
  • Created and sold our 2023 GRIN2B Calendar.
  • Started fundraising partnerships with Billy Footwear and See’s Candies. 

Research & Medical

  • Signed contract with Children’s Hospital Colorado to develop the 1st North American Center of Excellence for GRI-gene Disorders.
  • Awarded $25k to the Stephen Traynelis Lab at Emory University to advance their translational work with GRIN2B variants and animal models that are directed toward assessing potential therapeutic strategies.

    The Team from GRIN Therapeutics
  • 4 stem cell lines for GRIN2B patients generated for research through partnership with Simons Searchlight.
  • Collected 5 blood samples from GRIN2B patients for our biorepository through Combined Brain.
  • Dr. Caitlin Hudac continued her EEG BioGene study, seeing patients at the GRIN2B Family Weekend.
  • Visited and gave feedback on GRIN Therapeutic’s first U.S. clinical trial site.
  • Continued to work with GRIN Therapeutics on outreach and feedback on their upcoming Radiprodil clinical trial, including drafting a letter of support for the FDA.
  • Helped identify and recruit families for Duke University’s Orca Study.
  • Presented to Duke University about GRIN2B.

 

A note about research. Sometimes people ask us why we aren’t further along in treating GRIN2B. Why aren’t we supporting either more research or specific types of research?

The fact is, it takes a LOT of money, time, understanding, safety and efficacy. It also takes a lot of bio specimens, patient participation and clinical trials. It takes a lot of collaboration with our Medical Advisory Board. While we believe Parents are important for driving research, it is still critical to rely on experts for guidance. And the truth is that wanting to fund more research simply isn’t enough. The members of our Medical Advisory Board have a diverse background and many of them are considered to be the foremost experts on GRIN disorders and NMDA receptors. 

We would fund dozens of research projects a year if our budget allowed for it. Most scientific research is funded through a combination of government grants, companies doing research development and non-profit foundations. In rare diseases it takes a lot of time to find and apply for these opportunities, as well as a lot of research and expertise to get the ball moving. We pride ourselves on our ability to make our funding choices very thoughtfully and carefully. 

GRIN2B Foundation has been able to support over $245,000 in GRIN2B research to date – and this amount is growing exponentially. Learn more about our funded research projects here – http://grin2b.com/awarded-grants/

If you are interested in learning more about the research process, we recommend you download the following toolkit from our partner, Global Genes – Rare Research Roadmap.

On the horizon for 2023

  • Finally launch Center of Excellence for GRI Disorders in Colorado, May 2023.
  • Review results of our latest Community Pulse Survey.
  • Celebrate GRIN2B Awareness Week, March 12-18.
  • Sponsor and attend Cure GRIN conference in March.
  • Develop our 1st Strategic Plan.
  • Develop Corporate Sponsorship packet.
  • Partner with Uplifting Athletes to co-fund a Young Investigator Grant for Dr. Riley Perszyk at Emory University.
  • Finalize our Welcome Booklet for New Families and translate into several languages.
  • Continue our Bee Connected Meetups.
  • Plan various informational webinars.
  • Begin early planning for the 2024 GRIN2B Family Weekend.
  • Host 4th Bee Active for GRIN2B Walk, Run & Roll Fundraiser in September 2023.
  • Continue to collaborate with GRIN medical community and partner organizations on future research projects to fund.
  • Continue to recruit new volunteers, board members and advisors.

Get Involved!

General inquiries – liz.marfia-ash@grin2b.com

Center of Excellence – donna.dunn@grin2b.com

Family Support / Patient Grants – brittaney.crider@grin2b.com

Family Advisory Committee – lauren.hookings@grin2b.com

Fundraising – fundraising@grin2b.com

 

GRIN2B Foundation Awards $25K to Emory University

GRIN2B Foundation is pleased to announce an award of $25,000 to Dr. Stephen Traynelis’s Lab at Emory University for a project entitled:

“The Impact of NMDA Receptor Potentiation on Synaptic Plasticity in GRIN2B LOF Variants”

Dr. Traynelis is a Professor of Pharmacology and Chemical Biology at the Emory University School of Medicine in Atlanta, GA, and the Director of the Center for Functional Evaluation of Rare Variants (CFERV). For this project, the lab will test whether administration of an allosteric potentiator of NMDA receptors can rectify deficient synaptic plasticity observed in mice harboring a LOF GRIN2B variant.

“We are delighted to have received additional financial support from the GRIN2B foundation for our work on GRIN2B variants identified in patients. Our past funding has allowed us to translate in vitro functional results with GRIN2B variants into animal models, which we have developed, characterized, and are using to assess potential treatments. This latest round of funding will allow us to significantly expand our efforts on translational work with GRIN2B variants and animal models that are directed toward assessing potential therapeutic strategies. Specifically, these funds will accelerate our current work assessing how NMDA receptor potentiation (through glycine site agonists or positive allosteric positive modulators) can restore deficits in cellular models of learning observed in mice harboring a GRIN2B variant that reduces in vitro models of plasticity. We are excited to complete these experiments, and look forward to working to move our research results on a translational path toward establishing new therapeutic strategies.” – Dr. Stephen Traynelis

Hear Dr. Traynelis and Board President, Liz Marfia-Ash speak about this project on our Giving Tuesday Facebook Live around the 20:15 mark.

Read about our previously funded projects here.

We would not be able to continue funding GRIN2B research without our community of patients, families, scientists, clinicians and people like you. Thank you for believing in and powering our mission. Make a donation today and impact vital research as we drive closer to treatments every single day.

Our team is always working to identify additional research projects to fund. Stay tuned for our next research funding announcement in mid January.  

DONATE TODAY TO CONTINUE SUPPORTING RESEARCH

Thank you,

Liz Marfia-Ash, GRIN2B Foundation Board President

So Your Child Received a GRIN2B Diagnosis; What’s Next?

By Liz Marfia-Ash, President and Founder of GRIN2B Foundation

In our Private GRIN2B Parent Support Group on Facebook, a parent recently commented that most GRIN2B Parents have read the blog post I wrote back in 2016 – To the Person Who Just Googled GRIN2B For the First Time. I don’t know if that’s true, but, regardless, it’s an immense responsibility and privilege to know that my words are impacting newly diagnosed families. It’s why I wrote the article in the first place, but it’s quite another thing to hear someone else say it.

In 2016, I wrote to give future families hope. 

I wanted more families to find us and know that we were getting organized. I wanted families to have what I didn’t have – a soft place to land when they received the diagnosis for their child. We’ve accomplished that, and families from all over the world have found us. 

Now I’m writing to tell you what to do next. A lot is happening in our community in the coming year, and I want you to be prepared and know how you can participate.

Two of the events we’re most excited for in 2022 are hosting our twice-postponed GRIN2B Family Weekend in July 2022 and launching the first ever Center of Excellence for GRI Disorders! 

The Family Weekend will be July 15th and 16th, 2022 at the Hyatt Regency O’Hare, just minutes away from O’Hare Airport in Chicago. We’re planning an amazing two days for families, full of GRIN2B updates, resources and as many opportunities for families to connect and bond as we can squeeze in. 

The Center of Excellence is an idea we have been working on since late 2019. Working with input from the team at Cure GRIN Foundation, this Center will be a place where all patients with GRIN, GRIA, GRIK and GRID Disorders can go to see a Team of experts. We are still finalizing the details, but the first Center will hopefully open in Spring of 2022 in Denver, Colorado. Our dream is to open more Centers around the U.S. in future years, though that will be dependent on increasing our fundraising. More to come soon!

Excitingly, we are also finally on the precipice of our first clinical trial! In case you missed the news, the newly formed GRIN Therapeutics is launching a clinical trial for the drug Radiprodil in 2022 for GRIN2B patients with a Gain of Function variation. If you’re not sure what Gain of Function even means, you can get a simple definition at the bottom of this page. Or read this blog from Dr. Tim Benke.

Or, follow along for my quick and dirty explanation.

  1. Your child receives their diagnosis. Their genetic report will list the details of your child’s specific variant. (Example: c.1146 G>A) This page helps explain the different types of variations that can occur and how to read your child’s genetic report.
  2. Each variant is then going to be further classified as either Gain of Function or Loss of Function. 
  3. Different medications will be recommended depending on which type of classification your child falls into (Gain or Loss). 
  4. As previously mentioned, the upcoming Radiprodil clinical trial is only for Gain of Function patients. There will be additional trials down the line for Loss of Function patients.

We are working with the team at GRIN Therapeutics to help design this upcoming Clinical Trial and determine the best locations to have trial sites. But to do this, we need to know which patients are classified as Gain of Function. And for that to happen, we need every GRIN2B patient to be enrolled in the GRIN Variant Patient Registry.

So, if you haven’t already, please do the following:

  1. Enroll in the Registry
  2. Once enrolled, your child’s variant info will be sent to the Center for Functional Evaluation of Rare Variants (CFERV) at Emory University where they will perform the functional analysis to determine if the variant is Gain or Loss.
  3. If the variant is found to be Gain of Function, start thinking about the possibility of enrolling your child in the upcoming clinical trial.

Feeling overwhelmed yet? It’s complicated for me to explain, so I imagine how this must feel to newly diagnosed families. Our Family Advisory Committee is currently working on developing Welcome Packets and Checklists for our Community to help get you started on the right foot. In the meantime, I’ve created some helpful checklists below. Keep in mind, these lists are not all inclusive. Think of this post as merely a starting point, and know that something more comprehensive is in the works.

Please, please, pretty please put these at the top of your list (if you haven’t already done them).

  • JOIN the Family Contact Registry for GRIN2B Foundation. This puts you on our organization’s mailing list. It also gives us a general idea of how many families we are supporting and where everyone is located.
  • ENROLL in the GRIN Variant Registry (See all the reasons I mentioned above.)
  • JOIN our private GRIN2B Parent Support Group (if on Facebook) to connect with other families – we’ve got an incredibly welcoming community! (Be sure to answer our questions when you request to join or we cannot approve you.)
  • FOLLOW us on Facebook, Instagram, Twitter and YouTube

Other things to keep on your radar and do when you can, if you can.

  • Start educating yourself on the clinical trial process. Read this blog and watch these webinars.
  • Save the Date for our Family Weekend July 2021. (We will have Travel Stipends available and registration will open early 2022.)
  • Enroll in Simons Searchlight’s GRIN2B study.
  • There are more research studies in the pipeline. Keep an ear out for new opportunities.
  • Fundraise for us, or consider making a monthly or one time donation. We see our GRIN2B families as families first and foremost and NOT as donors. That being said, GRIN2B is not really the type of disorder that is going to get donations from random, rich strangers. Our biggest donors are either families themselves or friends and relatives of GRIN2B patients. We have a lot going on in the coming years, and we are going to need the community to participate in fundraising. You don’t need to throw a fancy gala. We have so many easy ways to fundraise for us listed on our website. The truth is, we cannot keep working at this current pace without more fundraising support.
  • Let us know if you want to get more involved. We’re always looking for people skilled in the following areas – Fundraising, Legal, Financial, Marketing, Science/Medical. Email me at liz.marfia-ash@grin2b.com.

Resources to help you and your extended family. (The holidays are a great time to share these resources with loved ones who may be interacting with your family.)

Recommended blog posts. (They’re short and easy to digest and should feel relatable.)

If the above lists have you feeling stressed out, take a deep breath. And then sit and think for a second about how none of these programs, clinical trials, future centers of excellence, resources, fundraisers and support groups existed seven years ago. We have so much to be thankful for. “I don’t have to chase extraordinary moments to find happiness – it’s right in front of me if I’m paying attention and practicing gratitude.” – Brene Brown

Ashley Reid, a GRIN2B mom on our Family Advisory Committee recently shared an amazing testimonial about our organization.

“Whether we are looking for community, advice, the latest research studies or just to feel less alone, the GRIN2B Foundation makes room for everyone.”

BEE ICONMaking room for everyone is at the heart of our Foundation. Everyone comes to us at a different place; some have babies who are being diagnosed, and some are finally putting a name to what their adult children have lived with their entire lives. There is no right or wrong way to process the diagnosis or get involved with our community. But, for those who are ready to get involved in whatever way possible, this blog is the resource you are looking for.

There’s truly no rush to do everything at once. Just do the next right thing.

GRIN2B Foundation Awards $40K Research Grant to Emory University

GRIN2B Foundation is pleased to announce an award of $40,000 to Emory University to promote scientific understanding of the ultra-rare genetic condition known as GRIN2B-Related Neurodevelopmental Disorder.

GRIN2B Foundation’s 2021 research grant recipient is Dr. Hongjie Yuan, Assistant Professor of Pharmacology and Chemical Biology at the Emory University School of Medicine in Atlanta, GA, and Deputy Director of the Center for Functional Evaluation of Rare Variants (CFERV) for his research project entitled:

“Functional Evaluation and Therapeutic Strategies for an Animal Model Harboring a Disease-associated Gain of Function GRIN2B Variant”

Building on the grant Dr. Yuan received a year ago to study the impact of a Loss of Function GRIN2B variant on NMDA receptor function, Dr. Yuan and his team will now replicate the study, only this time with a Gain of Function GRIN2B variant. ​​Using multiple techniques, they will show how a Gain of Function GRIN2B-p.Ser810Arg variant identified in a pediatric patient with intellectual disability and seizures influences synaptic activity/connectivity, seizure threshold and behaviors in a knock-in mouse line harboring the variant. They will also assess if the addition of substances (e.g. Radiprodil, Memantine, Ketamine) to the mouse models will lessen the impact of the GRIN2B variant. 

Read more about Dr. Yuan, his current project and our previously funded projects here.

According to Dr. Stephen Traynelis, Professor of Pharmacology at Emory University and member of GRIN2B Foundation’s Medical Advisory Board:

“The GRIN2B Foundation has a history of funding cutting edge research on new treatment options for patients with GRIN variants. Dr. Hongjie Yuan is a leader in conceptualizing new therapeutic strategies for patients with GRIN variants. The ongoing work is exciting, has stimulated interest in the private sector for treatment strategies, and is poised to provide new insight into how the GRIN2B gene can influence development and human behavior. It’s hard to overstate the impact of this particular study for the community of patients and families associated with GRIN variants, enabled both by generous donations and the support of GRIN2B foundation.”   

We would not be able to award these important research grants without our community of patients, families, scientists, clinicians and people like you. Thank you for believing in and powering our mission. Make a donation today and impact vital research as we drive closer to treatments every single day.

DONATE TODAY TO CONTINUE SUPPORTING RESEARCH

Thank you,

Liz Marfia-Ash, GRIN2B Foundation Board President

 

Introducing GRIN Therapeutics

Dear GRIN2B Community,

We are excited to share that we finally have our first clinical trial on the horizon! We first met Dr. Muglia in 2019 at the GRIN Variant Conference hosted by CFERV in Atlanta. We’ve kept in touch with him and, in early 2020, he shared his interest in starting up a clinical trial for the drug Radiprodil, which he believes will be effective for GRIN2B patients with a gain of function variant. Please read the statement below from Dr. Muglia about his recently formed biotech, GRIN Therapeutics. We are working closely with the GRIN Therapeutics team to make this trial effective, and we will share more news in the coming months. This is an important first step towards effectively treating GRIN2B patients. We look forward to learning the ins and outs of the clinical trial process and educating our community members as well.

With hope,

Liz Marfia-Ash, GRIN2B Foundation Board President

Watch Dr. Muglia’s presentation at the recent GRIN Virtual Conference.

Statement from GRIN Therapeutics:

 On behalf of GRIN Therapeutics and Dr. Pierandrea Muglia, we would like to thank the GRIN community for inviting us to present at the 2021 GRIN Virtual Conference, where Dr. Muglia spoke about the recently formed biotech, GRIN Therapeutics. The company will be primarily focused on developing Radiprodil for children with gain of function genetic variants in GRIN2B.

I would also like to introduce myself: I am the Head of Community Engagement and Communications. I have also spent the last decade as rare disease advocate and the mother of a medically complex child. I joined GRIN Therapeutics to help facilitate the collaborative work with the GRIN community that is required to develop a potential treatment in an ultra-rare disorder. I took on this role so enthusiastically because your community is at the center of the story how this company was formed.

We look forward to sharing the next steps on this path with all of you.

-Hillary Savoie, Head of Community Engagement and Communications

Statement to the GRIN Community on GRIN Therapeutics and Radiprodil

The establishment of GRIN Therapeutics this month is not only the result of two years of work by our CEO, Dr. Pierandrea Muglia. It is also the result of the tremendous efforts of the GRIN community: The idea of this company was inspired by meeting the GRIN community two years ago at the 2019 CFERV Conference on GRIN Variants held at Emory University, in Atlanta.

Dr. Muglia came to this conference knowing that Radiprodil had a mechanism that suggested it might help patients with gain of function genetic variants in GRIN2B. What he didn’t expect was the maturity all the work produced by the GRIN community—from clinicians, researchers, advocates, and families working together.

This community inspired him to form GRIN Therapeutics to focus entirely on developing potential treatments for the GRIN community—beginning with Radiprodil. This passion has fed and inspired our small, patient-focused team, who we look forward to introducing to you in the coming weeks. Earlier this month, at the 2021 GRIN Virtual Conference, we announced our plans to initiate the first clinical study on Radiprodil in children living with GRIN2B gain of function, with a goal to establish appropriate dosing based on safety and initial effect.

We also shared the following details. Radiprodil:

  • Is a pediatric phase 2 ready, selective NR2B negative allosteric modulator
  • Has safety database from more than 400 adults
  • Was used safely in three treated infants with an effect on seizures/spasms in these treatment-resistant patients
  • Rectifies in-vitro overactive –NR2B gain of function of specific variants (N615I; V618G)
  • Shows anticonvulsant activity in several preclinical seizure models
  • Has potential to treat seizures and other symptoms in children with GRIN2B gain of function variants

In the next six to nine months we will develop a pediatric formulation and complete a submission to regulatory bodies. Most importantly, we will also engage in dialogue with key leaders from the GRIN community. The path to clinical trials is complex, however, we see you as our most important partners in the process to get to the first clinical trial in the GRIN2B.

 

GRIN2B Foundation is Part of COMBINEDBrain

In late 2019, GRIN2B Foundation became a founding member of COMBINEDbrain, a non-profit consortium of 25 patient-advocacy groups, each representing a different rare genetic neurodevelopmental disorder. COMBINEDBrain’s mission is to speed clinical trial readiness for severe cognitive disorders by pooling resources and working together across all of our member disorders.   

We have been both thrilled and honored to participate in CombinedBrain. Working alongside so many other like-minded organizations, all focused on treating and curing ultra-rare neurodevelopmental disorders has been truly empowering. In the past year, we have come to realize that though our disorders have different names and affect different genes, we have so many overlapping characteristics. As a group, we are able to share ideas, resources and contacts. We learn from and inspire each other and work together to find strategic partnerships. Most importantly, our membership in CombinedBrain helps spread much-needed awareness about GRIN2B-Related Neurodevelopmental Disorder and GRIN Disorders and gives us access to companies that can help us achieve our goal of finding targeted treatments for individuals with GRIN2B.

COMBINEDBrain was founded by Dr. Terry Jo Bichell, whose adult son has Angelman Syndrome. In 2009, Terry Jo went back to school, earning her PhD in neuroscience in order to work towards finding a cure. She created COMBINEDBrain in 2019 to share her experience with the next wave of rare diseases. She’s a force to be reckoned with in the rare disease community, and we are so grateful to have her as a mentor and friend.

The other members of CB that we are in collaboration with (in reverse alphabetical order) are:

Yellow Brick Road Project (HNRNPH2) is represented by Trish Flanagan, President. The YBRP connects families and drives research forward into HNRNPH2 mutations to improve these rare patients’ lives. This is a small but fiesty organization who are laser focused on getting to clinical trials, treatments and a cure for the rare X-linked HNRNPH2 related neruro-developmental disorder.

Schinzel-Giedion Syndrome Foundation (SGS) is represented by Nuala Summerfield, Founder and Chair. The organization’s mission is to provide support to families caring for a child with SGS, to raise awareness of SGS and to facilitate and support medical research that will help find better treatments to improve the quality and length of life of children living with SGS. The Schinzel-Giedion Syndrome Foundation is the only patient organisation for SGS and represents the international SGS community. 

SynGAP Research Fund (SRF) is represented by Mike Graglia, Managing Director & co-founder. SRF’s mission is to support the research and development of treatments, therapies and support systems for SynGAP1 patients worldwide. SRF is entirely parent led and has committed over $1.2M to research since it was created, 100% of donations go directly to support research. 

STXBP1 Foundation is represented by Charlene Son Rigby, President. The STXBP1 Foundation’s mission is to raise awareness of STXBP1 disorders, and to accelerate the development of therapies and hopefully a cure for our patients.

SLC6A1 Connect is represented by Amber Freed, CEO & Co-Founder. The mission of SLC6A1 Connect is to cure every person with SLC6A1.

SETBP1 Society is represented by Haley Oyler, President. Their mission is to provide support to individuals with SETBP1 disorder and their families, to promote discussion and fund research, and to bring awareness and education to the public. SETBP1 Society is an internationally-focused volunteer 501(c)(3) organization based in the US with a focus to identify targeted treatments to help individuals impacted by SETBP1 disorder.

SATB2 Gene Foundation is represented by Allison Kaczenski, President & Founder. The SATB2 Gene Foundation was established to enrich the lives of individuals with SATB2-associated syndrome, including those diagnosed with the condition and their families, through support, research and education. 

Project 8p Foundation is led by Bina Maniar Shah, President & Founder. Project 8p Foundation is a 501(c)(3) non profit organization established to accelerate the discovery of treatments for chromosome 8p disorders with a translational research program and a standard of care to empower meaningful lives in a unified community today. Chromosome 8p is not just a rare genetic disease, but the many genes and pathways can be clues to common brain-related diseases.

Project Alive  is represented by Kim Stephens, DBA, President. Their mission is to find and fund a cure for Hunter Syndrome (also known as Mucopolysaccharidosis or MPS II) through research and advocacy.Project Alive is a powerful voice for children and adults with Hunter Syndrome, bringing together families and advocates with researchers, industry, and regulators. 

PBD Project  is represented by  Andrew Longenecker, Founder. Their mission is to PBD Project is to fund medical research with the objective to provide meaningful positive clinical impact for patients with Peroxisome Biogenesis Disorders (PBD), with a focus on Zellweger Spectrum Disorder (ZSD) caused by mutations to PEX10 gene. 

NR2F1 Foundation is represented by Carlie Monnier, Board President. The mission of the NR2F1 Foundation is to empower families and individuals living with rare NR2F1 mutations through education, awareness and research. As a result of joining forces with other foundations, we aim to be leaders in patient empowerment and patient-led research for the rare disease community at large ultimately serving as a model to other organizations.

Malan Syndrome Foundation is represented by Dr. Christal Delagrammatikas. The mission of the Malan Syndrome Foundation is to improve the lives of individuals and families affected by Malan syndrome in the global community through support, outreach and research. The Malan Syndrome Foundation is a volunteer, parent-led organization. 

KIF1A.ORG is represented by Kathryn Atchely, President. KIF1A.ORG is a global community dedicated to improving the lives of those affected by KIF1A Associated Neurological Disorder and accelerating research to find a cure. Our relentless community of families, researchers, clinicians, innovators and supporters are determined to bring treatment to this generation of people affected by KAND.

GRIN2B Foundation is represented by Liz Marfia Ash, President & Founder. GRIN2B Foundation is a parent-run organization dedicated to furthering research on the GRIN2B gene and providing support and education to the small, but growing community of individuals and families impacted by a GRIN2B diagnosis. Though GRIN2B Foundation was the first GRIN2B-related organization formed, we are very proud to work in collaboration with many other GRIN2B and GRIN Disorder organizations that have since formed worldwide.  

Glut1 Deficiency Foundation is represented by Glenna Steele, Executive Director. The Glut1 Deficiency Foundation is a nonprofit patient advocacy organization dedicated to improving lives in the Glut1 Deficiency community through its mission of increased awareness, improved education, advocacy for patients and families, and support and funding for research. We are working hard to bring help and hope to the Glut1 Deficiency community. 

FOXG1 Research Foundation is represented by Nasha Fitter, CEO, Head of Research. The mission of the FOXG1 Research Foundation to accelerate research to find a cure for FOXG1 syndrome. We are dedicated to funding the world’s leading scientists that are integral along the Path to a Cure for all children with FOXG1 syndrome. We will continue to apply our research to solve related brain disorders. 

Foundation for USP7 Related Diseases is represented by Bo Bigelow, Chairman/Co-Founder. Their mission is to cure Hao-Fountain Syndrome (previously known as USP7-related diseases). We do this by funding research and identifying more patients. In funding research, we seek to (1) uncover methods of activating USP7 to rescue this haploinsufficient phenotype; and (2) understand how alterations in proper functioning of endosomal protein recycling cause seizures and other neurological problems. 

FamilieSCN2A Foundation is represented by Leah Schust Myers, Executive Director. Their vision is to find effective treatments and a cure for SCN2A related disorders. Their mission is to improve the lives of those affected by SCN2A related disorders through research, public awareness, family support and patient advocacy. FamilieSCN2A Foundation was created by parents of children suffering from SCN2A related disorders who work unwaveringly to support both families and research.

CureGPX4 is represented by Sanath Kumar Ramesh, Founder. The organization’s mission is to create treatments to Spondylometaphyseal Dysplasia Sedaghatian type (SSMD). 

CureSHANK  is represented by  Geraldine Bliss,  Founder and President. Their mission is to accelerate the development of treatments for Phelan-McDermid Syndrome and SHANK-related disorders.  Their approach is to identify and fund projects that overcome critical barriers to successful drug development and to coordinate scientific efforts to improve efficiency and speed in the field.  

CureGRIN is represented by Keith McArthur ,CEO and Head of Science. Their mission is to improve the lives of people living with GRIN Disorder. The foundation is founded and run by parents that are committed to improve the lives of people with GRIN disorder.  

CHAMP1 Research Foundation  is represented by Jeff D’Angelo, Founder, Research Committee Chair. Their mission is to improve the lives of those affected by CHAMP1 through clinical research, effective treatments, public awareness, early detection, family support and patient advocacy. 

CACNA1A Foundation is represented by Lisa Manaster, President. Their mission is to increase awareness of CACNA1A variants, support  individuals and families affected by CACNA1A, and raise funds to support research and treatment options to find a cure for CACNA1A.