Summer 2022 Newsletter
2022 Glut1 Deficiency Scientific and Family Conference
Our long-awaited San Diego conference is almost here, and we can't wait to gather together again! You can attend virtually, too, and still have access to all the great content in the scientific and family sessions - you'll be able to watch the general session recordings (not breakouts) after the conference is over. Just look for the virtual attendance option in the registration process.
Registration closes for both in-person and virtual at the end of the day on July 1st!
Registration closes for both in-person and virtual at the end of the day on July 1st!
The scientific sessions will provide opportunities for building on the successes of our inaugural scientific meeting, which was held virtually in June of 2021. The family sessions will bring the patient and family community together to meet others on this journey, share support and encouragement, and learn from experts and each other.
The goals of our gathering:
This convening provides the opportunity for all to build relationships, foster collaborations, and create community while focusing on how to better meet the needs of patients and families. Visit our website at the link below to learn more about how you can take part.
We are thankful for all the great photos and videos that were submitted to help us spotlight patients and families throughout the conference, and we look forward to sharing these with everyone after. We also thank all those willing to take part in the research studies happening during the conference (more details to come to registered attendees). This research is being made possible from funds raised by the community through the Love Some1 with Glut1 campaign.
We are thrilled to have 273 in-person attendees registered for the family sessions (with 71 families represented) and 61 for the scientific, with several more opting for virtual participation - we are grateful for each and for the interest in our community.
- share key research updates
- identify critical gaps in understanding and strategies to address them
- foster connections and collaborations across related research areas
- include and engage all stakeholder groups to drive research progress
- attract and inspire new researchers and disease specialists
- improve patient care
- support, connect, and empower the patient and family community
- give patients a voice in the research process
This convening provides the opportunity for all to build relationships, foster collaborations, and create community while focusing on how to better meet the needs of patients and families. Visit our website at the link below to learn more about how you can take part.
We are thankful for all the great photos and videos that were submitted to help us spotlight patients and families throughout the conference, and we look forward to sharing these with everyone after. We also thank all those willing to take part in the research studies happening during the conference (more details to come to registered attendees). This research is being made possible from funds raised by the community through the Love Some1 with Glut1 campaign.
We are thrilled to have 273 in-person attendees registered for the family sessions (with 71 families represented) and 61 for the scientific, with several more opting for virtual participation - we are grateful for each and for the interest in our community.
2nd International Glut1 Awareness Day - July 10th
We are quickly approaching International Glut1 Awareness Day. We've been collaborating with other Glut1 patient groups from around the world to help focus our efforts and prepare. We need your help in making the day all it can be, and we're sharing some resources below to help you join in the celebrations and raise awareness so that patients and families who already have a diagnosis feel included, counted, and seen, and that those still waiting on a diagnosis have a better chance of getting one.
Messaging: (thanks to Vivian Mathis!)
short posts in English and Spanish
Messaging: (thanks to Vivian Mathis!)
short posts in English and Spanish
Hashtags Recommendations:
#togetherforglut1 (borrowed from the Italian Glut1 Association!)
#glut1deficiencyday
#globalglut1community
#glut1community
Logos: (thanks to Alessandra Camerini!)
Click on images below to download. Facebook has suspended the ability to add frames (at least in the United States), but you can still use the transparent background in photo editing software to create your own profile picture to upload.
#togetherforglut1 (borrowed from the Italian Glut1 Association!)
#glut1deficiencyday
#globalglut1community
#glut1community
Logos: (thanks to Alessandra Camerini!)
Click on images below to download. Facebook has suspended the ability to add frames (at least in the United States), but you can still use the transparent background in photo editing software to create your own profile picture to upload.
|
|
|
|
CZI Rare As One Network Annual Meeting
Our membership in the Chan Zuckerberg Initiative Rare As One Network has brought so many benefits and so much growth to the G1DF. We were awarded the grant just as the pandemic first started, so all of our trainings and meetings have been virtual over these last two years. We were thrilled to get to attend the in-person meeting in San Diego in June and spend time together with all of those who are on similar missions for their own disease communities and who have been so helpful and supportive in this close-knit Rare As One Network. The meeting was an incredible success and really focused on how patients can be empowered to drive research progress and put the priorities of their communities front and center.
Pictured left to right with two posters presented on Glut1 Deficiency: Juan Pascual, MD, PhD - grant lead researcher; Sandra Ojeda, PhD - G1DF Science Director; Glenna Steele - G1DF Executive Director; Matthew Gentry, PhD - G1DF Science Advisor.
Pictured left to right with two posters presented on Glut1 Deficiency: Juan Pascual, MD, PhD - grant lead researcher; Sandra Ojeda, PhD - G1DF Science Director; Glenna Steele - G1DF Executive Director; Matthew Gentry, PhD - G1DF Science Advisor.
EpiCon
|
We were honored to have the chance to talk about Glut1 Deficiency at the Epilepsy Foundation's first ever EpiCon Conference in Nashville in May. G1DF's Executive Director Glenna Steele participated in a panel discussion with Ilene Penn Miller, Director of the Rare Epilepsy Network, and Dr. James Wheless, Director of the Neuroscience Institute and Le Bonheur Comprehensive Epilepsy Program in Memphis. The topic was Find the Root Cause of Your Epilepsy: It's Never Too Late, highlighting the many ways a diagnosis beyond just epilepsy can make a tremendous difference.
|
Science Highlights
Hello! I want to highlight several things that will be happening in our community this summer. First of all, I cannot tell you how happy I am that our Glut1 Deficiency Scientific and Family Conference will be in person from July 11th -15th in San Diego; it is going to be an amazing event.
For our scientific sessions, we have a number of great of speakers who have been part our community from the beginning, as well as new researchers who are working in related areas with overlaps into our disease. We will be hearing about new insights in Glut1 Deficiency syndrome, such as new treatments in development and the identification of new biomarkers. There will be a session dedicated to current research, including a talk about gene therapy for the treatment of this condition. We will have a session dedicated to the function of the Glut1 transporter not only in Glut1 Deficiency syndrome, but also in other conditions. We will be learning about brain metabolism and the importance of understanding it to develop better treatment options for our patients. Finally, we will be hearing about the standard of care treatment for Glut1 deficiency syndrome, the ketogenic diet. In addition, we will have a poster session where different researchers will share some of their current projects. This conference promises not only to be an event filled with learning opportunities, but also an ideal experience where researchers, clinicians and other stakeholders in our community will engage in collaboration to bring more progress.
Our family conference will be no less exciting, it will be a wonderful event for the families in our community to get together, share our experiences, learn from each other and from researchers and clinicians working to help our loved ones. We have an agenda that will allow everyone to have an opportunity to hear the latest news on current research about the condition, the ketogenic diet, as well as other possible treatments. We will also have talks regarding the adult patient experience and important resources available, and how to further support all of our patients with different types of therapies and other strategies. We have sessions focused on family experiences and led by parents where we will get to learn from each other and to hopefully help us make our own journey a little easier.
In addition to the wonderful learning sessions that will take place in San Diego, we will be launching our Natural History Study, helping build our biorepository collection, and providing an opportunity for participation in an important research study during the conference. We will be sharing more details with everyone about how you can participate and help drive research progress, even if you don't attend the conference.
Thank you and I am looking forward to meeting many of you soon!
-Sandra
For our scientific sessions, we have a number of great of speakers who have been part our community from the beginning, as well as new researchers who are working in related areas with overlaps into our disease. We will be hearing about new insights in Glut1 Deficiency syndrome, such as new treatments in development and the identification of new biomarkers. There will be a session dedicated to current research, including a talk about gene therapy for the treatment of this condition. We will have a session dedicated to the function of the Glut1 transporter not only in Glut1 Deficiency syndrome, but also in other conditions. We will be learning about brain metabolism and the importance of understanding it to develop better treatment options for our patients. Finally, we will be hearing about the standard of care treatment for Glut1 deficiency syndrome, the ketogenic diet. In addition, we will have a poster session where different researchers will share some of their current projects. This conference promises not only to be an event filled with learning opportunities, but also an ideal experience where researchers, clinicians and other stakeholders in our community will engage in collaboration to bring more progress.
Our family conference will be no less exciting, it will be a wonderful event for the families in our community to get together, share our experiences, learn from each other and from researchers and clinicians working to help our loved ones. We have an agenda that will allow everyone to have an opportunity to hear the latest news on current research about the condition, the ketogenic diet, as well as other possible treatments. We will also have talks regarding the adult patient experience and important resources available, and how to further support all of our patients with different types of therapies and other strategies. We have sessions focused on family experiences and led by parents where we will get to learn from each other and to hopefully help us make our own journey a little easier.
In addition to the wonderful learning sessions that will take place in San Diego, we will be launching our Natural History Study, helping build our biorepository collection, and providing an opportunity for participation in an important research study during the conference. We will be sharing more details with everyone about how you can participate and help drive research progress, even if you don't attend the conference.
Thank you and I am looking forward to meeting many of you soon!
-Sandra
Hope in Motion - Million Dollar Bike Ride
Team Glut1 is thankful for the opportunity to participate in the 2022 Million Dollar Bike Ride held in person this year on June 11, 2022 in Philadelphia. We were honored to join a number of other rare disease groups and put our hope in motion to help raise awareness and educate others about Glut1 Deficiency and help raise funds for research.
The Million Dollar Bike Ride is a very special opportunity to have our donations doubled through a program with Penn Medicine's Orphan Disease Center and a very generous anonymous donor. It is also a great way to connect with and learn from others in the rare disease community and foster a spirit of teamwork and support. We are grateful especially to the Meisner and Rebbecchi families for participating in person and rallying friends and family to join. Thanks to support from near and far for the Million Dollar Bike Ride and the recent Love Some1 with Glut1 campaign, the Team Glut1 will be able to turn our $30,000 into a $60,000 grant (and likely a bit more) for a Glut1 Deficiency research project. Information about the RFA and application process will come out in a few weeks, directly from the Penn Medicine Orphan Disease Center. Thank you to all who make this possible!
The Million Dollar Bike Ride is a very special opportunity to have our donations doubled through a program with Penn Medicine's Orphan Disease Center and a very generous anonymous donor. It is also a great way to connect with and learn from others in the rare disease community and foster a spirit of teamwork and support. We are grateful especially to the Meisner and Rebbecchi families for participating in person and rallying friends and family to join. Thanks to support from near and far for the Million Dollar Bike Ride and the recent Love Some1 with Glut1 campaign, the Team Glut1 will be able to turn our $30,000 into a $60,000 grant (and likely a bit more) for a Glut1 Deficiency research project. Information about the RFA and application process will come out in a few weeks, directly from the Penn Medicine Orphan Disease Center. Thank you to all who make this possible!
|
|
|
|
New Tools and Resources:
new websiteWe have been hard at work building a new and improved website, which will help families, clinicians, and researchers better navigate the information and resources and help the community engage easier with the work of the G1DF.
We are also developing some new resources that we hope will help provide new ways to support, educate, and inspire all stakeholders in our community as we reach for a brighter future for everyone with Glut1. Please watch for it to launch later in the summer, and we hope you'll like it (and use it) as much as we do! 
|
natural history studyWe are also preparing to launch what we believe will be the single most important and valuable research tool we can provide to the scientific community - a global natural history study to help better understand the life-long Glut1 Deficiency experience.
We'll share more details at our conference and afterwards to those who don't come in person, and we hope we can count on you to help make this tool the best it can be. It is your chance to make sure your loved one with Glut1 is counted and represented in the story of Glut1 Deficiency, and that the research community has access to this knowledge and insight as they work to find ways to help us. 
|
Walk for Will
Glynis Rhodes helped organize the 2nd Walk for Will, honoring the Hagler family in Northport, Alabama and their sweet Will and raising awareness and over $2,000 in funds for the Glut1 Deficiency Foundation's mission programs. The Hagler's have a wonderful and supportive circle of family and friends who also extend that help and and support to the greater Glut1 Deficiency community. We are thankful for all of them and the difference they are making.
|
|
New Shop on Bonfire!
In preparation for the new website we will be launching later this summer, we've set up a permanent store front on Bonfire (recommended by our web designers) where you can order any product in the store any time of year. They'll be created and shipped on demand directly from Bonfire, and the Glut1 Deficiency Foundation will receive a portion of each sales price. You'll find shirts with both the Love Some1 with Glut1 logo and the G1DF logo. Be sure to check the store regularly as selections may change through the seasons, and thank you for Shopping to Support the Glut1 Deficiency Foundation!
Facebook & Instagram Fundraisers
|
Huge thanks to all the Facebook and Instagram supporters. We appreciate all who have organized or donated in this way through birthday fundraisers, special events, memorials, and the Million Dollar Bike Ride efforts. You've helped spread awareness and made a difference to our community! Total giving since the spring newsletter is an amazing $1,089.00 - thank you each so much and to each friend who donated as well!
Amy Peterman
Anne-Christin Köhncke Christiane Buhmelter Debby LaFoy Hagler Erika Futrell Josefine Wiik Fd Jonsson JustinJen Jordan |
|
please let us know if you have items to suggest or submit for future newsletter editions
