new Research Ready Series
We are thrilled and incredibly grateful to announce that the Glut1 Deficiency Foundation has received a $249,920 award from the Patient Centered Outcomes Research Institute (PCORI) for a special project to build a strong, patient-centered research foundation and increase research literacy in our community.
Read the official press release below, where you'll also find links to additional details about the Research Ready Series, participant and travel stipend opportunities, and registration details. We hope to see you at one of our Research Ready events!
Registration and stipend applications are now open for the Indiana event!
Million Dollar Bike Ride
This Saturday, June 10th, is the day! Team Glut1 will be riding in the 10th Annual Million Dollar Bike Ride and walking the Million Dollar Mile in person in Philadelphia. Join us as we virtually ride or walk with them....whether you walk alone in your neighborhood or you join together with friends in a local park, we hope you'll put your hope in motion and help us raise awareness and double or donations for a research grant for Glut1 Deficiency.
Take a picture and tag us or use the hashtag #TeamGlut1 on social media. Get sponsors for your walk to donate $10 at the link below. We can't wait to see everyone putting their hope in motion this weekend for this amazing event that opens the door to groundbreaking research in rare disease communities like ours!
Check out the graphic above to see where previous Million Dollar Bike Ride grants have been invested in Glut1 Deficiency research, with all completed projects resulting in publications to share the learnings with the world.
European Conference
The 4th European conference on Glut1 Deficiency is coming up next week in Aschaffenburg, Germany.
The conference is hybrid with both in-person and virtual options and will provide an international platform for patients, families, caregivers, clinicians, researchers, and companies.
The G1DF is thrilled to be participating and are excited to learn the latest updates and have opportunities to strengthen our networks of clinicians, researchers, and other patient organizations working to improve lives in the Glut1 Deficiency community. We are so grateful to Dr. Klepper for all the time and effort he has put into this event and for all the ways he supports patients and families.
Global Keto Meeting
Registration for the 8th Global Symposium on Ketogenic Therapies is now open! Early bird registration discounts expire on June 30th.
The G1DF is honored to be partnering with Rady Children's Hospital and the International Neurological Ketogenic Society for this scientific meeting focused on the new horizons for diet, nutrition, cellular bioenergetics, and metabolism. There will be special sessions focused on Glut1 Deficiency and brain glucose metabolism with presentations from key opinion leaders in our disease and some newer to the field.
A family day is planned for September 23rd - learn more about the full meeting and registration details below.
Glut1 Gatherings
Check out our monthly Glut1 Gatherings and find a place to connect with others on this journey.
June gatherings for the Hispanic Community and Parents and Caregivers will be open sessions for questions, topics, and just getting to know each other better.
Glut1 Pals will have fun and games and social time, and the Super Heroes and Overcomers will have a mini-lesson on self-advocacy and some social time.
Find more information, schedules, and registration links on our website, and don’t forget to join the Family Network to take part.
New Book Club
The G1DF's Maddison Hall has started a book club as a way for those in the community to gather to talk, share, and connect about things other than Glut1. This can be a lonely journey that is hard for others to understand, so spending time with people who do can really help.
The first meeting was in May, and the next one will be June 30th at 7:00 PM Eastern and each last Friday of the month after. We voted on the first book to dig into - Special: anecdotes to the obsessions that come with a child's disability by Melanie Dimmitt. Grab a copy and join the conversation and camaraderie!
research updates
Get the latest blog update from G1DF Science Director, Dr. Sandra Ojeda.
In this month's Science with Sandra blog post, G1DF Science Director Dr. Sandra Ojeda covers some of the many projects Prof. Dr. Jörg Klepper is working on, including hosting the upcoming European Glut1 Conference next week in Aschaffenburg, Germany.
Dr. Klepper and his team authored a paper called Timing of the Ketogenic Dietary (KTD) Introduction and Its Impact on Cognitive Profiles in Children with Glut1-DS - A Preliminary Study - the results of a special study to characterize cognitive abilities in patients with Glut1 Deficiency following ketogenic diet therapy (KDT) with special emphasis on speech performance. Sandra provides a summary of the publication in the blog post.
There have been a flurry of new publications in the last couple of weeks with direct relevance to Glut1 Deficiency research and patient care. We'll work hard to bring you summaries of more in the next newsletter!
SUMMER RESEARCH ROUNDTABLE
Find out about the speakers and topics for our next Research Roundtable:
July 25th at 11:00 AM Eastern
Caroline Pearson, PhD from Weill Cornell is focusing on the role of Glut1 and glucose metabolism in neural progenitor cells using mouse and human models of brain development, including organoids. She'll share some updates on her work.
Jong Rho, MD is the division chief of neurology at Rady Children's Hospital and a professor at UC San Diego. He's also chairing the upcoming International Neurological Ketogenic Society Global Keto Symposium and will join us to give a sneak peek preview.
NEW MEDICAL ADVISORY BOARD MEMBER
We are honored and excited to welcome Kelly Faltersack to our Medical Advisory Board. She has presented at some of our past conferences, sharing some of her expertise in using ketogenic dietary therapies with adult patients. We're very thankful for her interest in helping us better serve the unique needs of the growing Glut1 Deficiency adult population and look forward to learning from and collaborating with her.
Kelly is a registered dietitian nutritionist at UW Health in Madison, Wisconsin. She has over 10 years of experience as a registered dietitian nutritionist. She has five years of experience in neuro intensive care and has specialized in ketogenic diet therapy for adults with epilepsy and other neurological conditions since 2016. Kelly has co-authored publications on ketogenic diet therapy, and has presented to a variety of groups, including the American Epilepsy Society, Epilepsy Foundation of Wisconsin, Glut1 Deficiency Foundation, and the Wisconsin Academy of Nutrition and Dietetics.
Kelly Faltersack MS, RD, LDN, CD
BIOREPOSITORY ROADSHOW
Contribute biosamples for researchers to study Glut1 Deficiency and other rare neurodevelopment disorders through the COMBINEDBrain Biorepository Roadshow. Just sign up and show up at one of the fellow patient advocacy group family conferences in a city near you to take part in a biomarker research project.
Learn more on our website and find a list of upcoming conferences where you can take part by providing blood, blood spot, and urine samples. June opportunities include the cities of Madison, New Jersey and Bethesda, Maryland.
NATURAL HISTORY STUDIES
Natural history studies are critical for helping understand lifelong patient experiences and how new treatments can be developed to change the trajectory and outcomes for patients in the future. The Glut1 Deficiency Foundation is participating in two different but equally important natural history studies, and we need your experiences included!
We are approaching the one year anniversary of the launch of our patient reported Natural History Study on the Matrix platform at our conference last year, and we plan to analyze and report back to the community on the anonymous patient experiences gathered so far and the things that have been learned. It is a great time to boost participation and make sure your loved one is included in this snapshot.
We are also encouraging participants to enroll in the Ciitizen Digital Natural History Study so we can reach a critical mass to trigger a free analysis and report of the clues inside patient medical records.
Both studies are invaluable and serve different purposes. Find more information on our website and please consider lending your time and experiences to help provide these critical research tools and better understanding of the Glut1 Deficiency experience.
spotlighting
family connections
We want to hear from you! Share YOUR story with our community! You never know who needs to hear it. We feature stories on our social media pages along with our website. Fill out our online form or send inquiries to [email protected].
Jyl
The G1DF's Communications Coordinator Maddison Hall had the chance to interview Jyl Riemersma recently and get some updates on all the exciting things going on for her. Jyl is wrapping up her second year as Indiana's Miss Amazing and just graduated from Huntington University's ABLE program.
Jyl’s story tells the tale of someone who fought past adversity and jumped over every hurdle along the way. Today, in the face of a rare condition such as Glut1 Deficiency Syndrome, Jyl knows what success looks like and she wears it well.
Glut1 glamour
Dr. Marjorie Caro hosted a Glut1 Fashion Show fundraiser with some of her original designs at her studio in Miami last month. She had all star models in Caroline and Alex, who spread sunshine, awareness, and inspiration on the fashion runway. They had a wonderful time and raised $2,000 and so much awareness! We are so thankful!
Marjorie has a corner of her yoga studio dedicated to teaching others about Glut1 Deficiency, and Caroline and Alex come every week. She has a banner, brochures, and a donation box where she regularly hosts sessions and the cost of admission is a donation to the Glut1 Deficiency Foundation.
in memory
The Glut1 Deficiency Foundation has recently received donations in memory of Fred Costanza, Karyn Ferris, and Robert Percini, all who had family members impacted by Glut1 Deficiency. We humbly and sincerely thank their friends and family members for choosing to honor their lives and leave a lasting legacy through gifts to support our ongoing mission work and make a difference in our community. We share our deepest condolences and gratitude.
Sending a big thank you to everyone who helped us with Facebook fundraisers for the month of May! We're thrilled with the awareness that was raised and we received $332 for the mission programs of the G1DF! We couldn't do any of what we do without YOU!
Emma Grace JustinJen Jordan
Francine Bourget Courtney Horner
