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Author: Liz Marfia-Ash

Liz Marfia-Ash is the President and Founder of GRIN2B Foundation. She lives just outside Chicago, Illinois with her husband and three children and is a very busy working Mom.

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

GRIN2B Foundation 2022 Holiday Gift Guide

The holiday season is upon us, everything around us is festive and exciting, our calendars fill up and if you’re a GRIN2B parent…anxiety is likely also creeping in. What do I buy for my GRIN2B kiddo? How many teachers, therapists, aides, bus drivers, tutors, etc do I need/want to shop for? Our hope with this Holiday Gift Guide is to take a little bit of the pressure off.

Skip the crowds this weekend, curl up in front of your computer and start online shopping! Please enjoy our very first GRIN2B Foundation Holiday Gift Guide! We have both a list of vendors that give back to GRIN2B Foundation AND ideas for your GRIN2B kiddos. 

Whether you’re shopping for family and friends, teachers and therapists, or looking for something special just for you, we hope you’ll shop with a purpose this holiday season by checking out the incredible partners included in this list. 

Partners that give back to GRIN2B Foundation

Purchase GRIN2B Foundation Merchandise through:

Bonfire – GRIN2B Holiday sweater, Awareness apparel, hats

Threadless – coffee mugs, blankets, notebooks, tote bags and more!

Our merchandise makes great gifts for teachers and therapists!

Additional Vendors that Give Back:

2023 GRIN2B Calendar – featuring 61 GRIN2B individuals.

See’s Candies – stock up on yummy chocolate for all your loved ones.

Revive Jewelry – Purchase our GRIN2B necklace and earrings, designed to honor the memory of RayAh, a sweet little girl from our community, who passed away in early 2020.

Billy Footwear – purchase through our affiliate link to receive 10% off and 5% will be donated back to us. 

AmazonSmile – select GRIN2B Foundation as your charity of choice and .5% of all your purchases are donated back to us! Be sure you’re shopping through AmazonSmile.com on your computer. If shopping through the Amazon app, you’ll have to turn on AmazonSmile within the app. 

*Have you completed any Simons Searchlight surveys this past year? You may have unclaimed Amazon rewards waiting for you. Find out by visiting your dashboard today and get ready to shop!

Gift Ideas for our GRIN2B kiddos (the links below do not benefit GRIN2B Foundation)

Littlest Warrior Holiday Gift Guide

A Very Special Needs Christmas Holiday Gift Guide

We also highly recommend shopping at Fun and Function for sensory toys and tools!

Last but not least, here are some personalized children’s book recommendations from GRIN2B Foundation President, Liz Marfia-Ash. These are books that celebrate disability and inclusion and are great for younger GRIN2B kiddos AND their Siblings

Celebrating Rare: The GRIN2B Podcast, Episode 7

By Phil Ash, GRIN2B Foundation Board Member

Hello! This is Phil Ash, teacher, father, Board Member of GRIN2B Foundation, and the host of Celebrating Rare: The GRIN2B Podcast. The COVID-19 Pandemic continued to affect our families and our Foundation in 2021. In spite of its restrictions, we were busy laying the groundwork for three very important initiatives that are all happening in 2022. It only made sense to close out 2021 by reflecting on the year that was, and previewing the exciting things that lay ahead. To that end, I brought on a very special guest for this episode…my wife! Though that’s how I know her, the rest of you all know her as Liz Marfia-Ash, GRIN2B Foundation Founder and President. Liz reflects on the year that was while also discussing our 2022 happenings! These include a clinical trial for patients with gain of function GRIN2B variants, the opening of the first GRI Center of Excellence in Denver, Colorado and previewing our first in-person family weekend since 2018. Note – this episode was filmed in the final days of 2021.

We are so excited to bring these programs to you in this new year, and we need your help and continued support to increase our funding and reach with scientists and researchers! The only way we can do that is for all of us to do the little things, like completing paperwork for GRIN2B patient registries or by hosting fundraisers or family meet ups. No matter how big or small, each of these programs make a difference for all of our families. I hope you enjoy this episode and that you and your family have a happy and healthy new year. As always, if you have comments or suggestions for future topics, or are interested in being a guest on future episodes, please send an email to phil.ash@grin2b.com or send a tweet to @grin2bsyndrome, using the hashtag, #CelebratingRare.

To further protect myself from any unintended mistakes, each episode will have the following written disclaimer when you click on the link:

PODCAST Disclaimer: While I make every effort to broadcast correct information, I am still learning. I make every effort to double check my facts, but realize that medicine is a constantly changing science and art. I am simply sharing my views and personal experiences as a GRIN2B parent. I am not a medical professional. I welcome any comments, suggestions, or correction of errors. This entire disclaimer also applies to any guests or contributors to the podcast. Under no circumstances shall Phillip Ash, GRIN2B Foundation, any guests or contributors to the podcast, or any employees, associates, or affiliates of GRIN2B Foundation be responsible for damages arising from use of the podcast.

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.

 

Celebrating Rare: The GRIN2B Podcast, Episode 6

By Phil Ash, GRIN2B Foundation Board Member

Hello! This is Phil Ash, teacher, father, Board Member of GRIN2B Foundation, and the host of Celebrating Rare: The GRIN2B Podcast. It’s been a while since a new Celebrating Rare podcast has dropped. I, like so many others, have had much to navigate throughout the course of the COVID-19 pandemic. However, during GRIN2B Awareness Week in March, I felt like it was finally time to get back on the podcasting horse in an ongoing effort to help provide support to our GRIN2B families.

In this episode, we dive into genetics 101 through the lens of a GRIN2B genetics report. Let’s face it, learning genetics and its terminology as it pertains to GRIN2B-Related Neurodevelopmental Disorder is not for the faint of heart. If you’re like me, and science does not come easy, it can be difficult to navigate all the questions you may have. For a newly diagnosed family, it can be scary to know where to begin and your emotions might be getting in the way of learning terminology and discovering answers. This episode seeks to provide simple information that is located on a typical genetics report families receive confirming the diagnosis of GRIN2B-Related Neurodevelopmental Disorder. My intention is to simplify this report and define as many terms as possible. I welcome any questions families may have – and there is no such thing as a stupid or silly question! We all don’t know what we don’t know, and I hope this episode can reframe the overwhelming topic of genetics into a way that’s easier to understand and digest.

I hope you enjoy this episode and be on the lookout for future episodes this year featuring additional parents, researchers and doctors. As always, if you have comments or suggestions for future topics, or are interested in being a guest on future episodes, please send an email to phil.ash@grin2b.com or send a tweet to @grin2bsyndrome, using the hashtag, #CelebratingRare.

To further protect myself from any unintended mistakes, each episode will have the following written disclaimer when you click on the link:

PODCAST Disclaimer: While I make every effort to broadcast correct information, I am still learning. I make every effort to double check my facts, but realize that medicine is a constantly changing science and art. I am simply sharing my views and personal experiences as a GRIN2B parent. I am not a medical professional. I welcome any comments, suggestions, or correction of errors. This entire disclaimer also applies to any guests or contributors to the podcast. Under no circumstances shall Phillip Ash, GRIN2B Foundation, any guests or contributors to the podcast, or any employees, associates, or affiliates of GRIN2B Foundation be responsible for damages arising from use of the podcast.

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.  

 

GRIN2B Foundation 2020 Year-In Review

Dear GRIN2B Families and extended Community Members,

We did it! We survived 2020! In the United States, the first few days of isolation fell right during our GRIN2B Awareness Week (March 16 – 22, 2020). The rest of March and April were spent in a daze; shuffling around our plans, canceling events, applying for grants and reimagining our year. Kudos to our team for pulling through!

While 2020 did not turn out the way we expected and our fundraising was understandably down a little, we are still very proud of all we were able to achieve in such a life-changing year. Please take a look at our Year In Review summary and know that all of our accomplishments are because of you, our supporters. Whether you volunteered your time, made a financial contribution, sent us words of encouragement or liked and shared our social media posts, our loyal community was always at the forefront of our minds. 

We came out of 2020 weary, but ready to start fresh, and our 2021 plans are already well underway. 2021 will still see us feeling the effects of COVID, but we are now able to meet our limitations with ease, flexibility, creativity and open hearts and minds. 

2021, here we come! If you’re able to support our 2021 mission, please consider making a donation.

Onward and upward,

Liz Marfia-Ash, GRIN2B Foundation Board President

GRIN2B Foundation – 2020 Year In Review

Feb 2020: Attended Global Genes Data DIY Conference in Houston, TX

March 2020: GRIN2B Awareness Week (3rd year!)

May 2020: Awarded Grant from Global Genes to provide Covid Assistance Relief to GRIN2B families

June 2020: Provided funding for the University of Colorado’s GRIN Variant Patient Registry

Sept 2020: 1st Bee Active for GRIN2B Virtual Walk/Run raises $25k

Nov 2020:  Awarded $45K grant to Dr. Hongjie Yuan of Emory University

 

Additional 2020 Accomplishments 

“I would like to thank the GRIN2B Foundation for their generosity in providing my family with the Rare Impact Grant…I appreciate your help during this stressful time.”

– The Lopez Family 

 

 

Operational & Administrative

  • Raised $104K+ in income. 
  • Received Seed grant from the National Organization for Rare Disorders to fund the setup of our new Donor Management System.
  • Added GRIN2B mom, Lauren Hookings, to the Board of Directors.

Support 

  • Provided $15K in direct assistance to 17 families facing financial hardship due to the COVID-19 Pandemic.
  • Private parent support group grew from 481 to 578 members, representing 45 countries.
  • Hosted 4 “Bee Happy Hour” Zoom meet-ups for GRIN2B parents. 
  • 136 families completed our family registry on our website.
  • Compiled and shared a blog on Covid Resources.
  • Produced several episodes of our podcast, Celebrating Rare: A GRIN2B Podcast.
  • GRIN2B Community Pulse Survey completed by 108 GRIN2B parents.
  • Launched commemorative necklace/earrings set in honor of Ray’Ah, a young girl with GRIN2B who passed away in early 2020.

Awareness

  • Shared 7 facts about GRIN2B during March Awareness Week and profiled 15 patients.
  • Produced and shared two new GRIN2B Symptoms Videos and had them translated into both French and Spanish.
  • Created and sold new Awareness apparel and accessories. 
  • 1400+ followers on our public Facebook page. 

Research & Medical

  • Launched 2nd Research Grant Cycle in June.
  • Produced 3 videos, encouraging families to enroll in the GRIN Variant Patient Registry.
  • Published Q&A with Dr. Tim Benke on our blog about patient registries and clinical trials.
  • Participated in GRIN Genes Roundtable discussions, hosted by our partner organization, Cure GRIN Foundation. 

On the horizon for 2021

  • 4th year celebrating GRIN2B Awareness in March.
  • Launch 1st Equipment Assistance Grant Program. 
  • Attend Global Genes Rare on the Road Leadership Conference in Chicago, May 22, 2021.
  • Host Virtual GRIN2B webinar series in July and encourage/help host regional Family Meetups.
  • Work with Dr. Caitlin Hudac to resume her Covid-delayed EEG study.
  • 2nd Bee Active for GRIN2B Virtual Walk/Run in September 2021.
  • Host 2nd Golf Outing Fundraiser in Boonton, NJ (Date tbd, pending local COVID restrictions). 
  • 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.