Winter 2022 Newsletter
Love Some1 with Glut1
It is the time of year when the Glut1 Deficiency community comes together to share stories, educate others, and raise funds to help the Glut1 Deficiency Foundation in its mission. Our annual Love Some1 with Glut1 campaign has launched today, Valentine's Day, and ends on Rare Disease Day - 14 days that make a tremendous impact on our work for the whole year.
In addition to our regular activities and programs, we've been working hard to build a community of scientists and clinicians who have the skills, knowledge, and commitment to help our patients and families find answers and solutions for the many challenges we face. As part of those efforts, we will be dedicating all donations to this year's Love Some1 with Glut1 campaign to fund projects for our new patient-centered Research Compass so we can drive progress faster, easier, and in more meaningful ways for our loved ones.
We dream of a brighter future where Glut1 Deficiency will be easy to diagnose early, treat effectively, and cure completely, but we need your help to make that vision a reality. We hope you'll join us.
Visit our website at the link above to find out how you can be part of shaping the future for everyone, everywhere with Glut1 and get ready to fundraise or donate to the campaign. We're so thankful for those who have joined already, and we can't wait to see what we can do together!
In addition to our regular activities and programs, we've been working hard to build a community of scientists and clinicians who have the skills, knowledge, and commitment to help our patients and families find answers and solutions for the many challenges we face. As part of those efforts, we will be dedicating all donations to this year's Love Some1 with Glut1 campaign to fund projects for our new patient-centered Research Compass so we can drive progress faster, easier, and in more meaningful ways for our loved ones.
We dream of a brighter future where Glut1 Deficiency will be easy to diagnose early, treat effectively, and cure completely, but we need your help to make that vision a reality. We hope you'll join us.
Visit our website at the link above to find out how you can be part of shaping the future for everyone, everywhere with Glut1 and get ready to fundraise or donate to the campaign. We're so thankful for those who have joined already, and we can't wait to see what we can do together!
2022 Glut1 Deficiency Scientific and Family Conference
We are thrilled about coming together in July to meet, share, and learn at our Scientific and Family Conference. We have a lot of information ready to share on our website, and registration and hotel reservations are now open! While we hope to see many of you in person, we understand the lingering challenges and concerns around the pandemic, so we've also worked to provide a virtual attendance option for those who would still like to participate but would like an alternative to coming in person to San Diego.
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We'll have Scientific Sessions earlier in the week where we'll hear about new research as well as the latest in understanding Glut1 Deficiency, how it impacts patients, and how best to care for them. Later in the week, we'll focus in the Family Sessions on how to better understand and manage this disease, the research taking place to help move progress forward, some tools and strategies to help make life easier and better, and opportunities to share support and encouragement as we get to know each other better.
This gathering 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. |
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Because there are understandable and ongoing concerns around COVID-19 and the impact on our attendees , the Glut1 Deficiency Foundation carefully and thoughtfully drafted a policy, supporting guidelines, and an agreement to help create a safe and healthy conference experience for our Glut1 community. The G1DF believes the policies and guidelines to be reasonable and necessary to help ensure a safe and healthy environment. We kindly ask that you assist us in this great effort, and you can find more details in the conference information at the link below.
Research Compass
We are also excited to share our new Research Compass. We've brought together stakeholders in our community to help develop this tool, hoping to help guide the way to the most important problems to solve, biggest questions to answer, widest gaps to fill, and heaviest burdens to ease. The Collective Voices Project played a large role in steering the development of the Research Compass, ensuring that it is led by the needs and priorities of patients and families.
We believe progress will come quickest and easiest not in a straight path or roadmap, but by creating relationships and collaborations across the many scientific corners that touch our disease. We hope this compass helps focus efforts and inspire action on behalf of those who need the answers to these questions - our patients.
This is an early version of a living and collaborative document that will be a highlight on our new website currently under development, and we hope to develop it into a one-stop resource for better understanding the research landscape and better connecting those who want to help fill in the gaps.
We believe progress will come quickest and easiest not in a straight path or roadmap, but by creating relationships and collaborations across the many scientific corners that touch our disease. We hope this compass helps focus efforts and inspire action on behalf of those who need the answers to these questions - our patients.
This is an early version of a living and collaborative document that will be a highlight on our new website currently under development, and we hope to develop it into a one-stop resource for better understanding the research landscape and better connecting those who want to help fill in the gaps.
Additional Rare As One Grant Award
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We received some wonderful news to kick off rare disease month. The Chan Zuckerberg Initiative (CZI) has granted the Glut1 Deficiency Foundation an additional $150,000 in funding to focus on organizational capacity-building and an additional year to be part of the Rare As One Network. The previous two years with Rare As One have been transformational as we've learned and grown alongside the original 29 other grantees in Cycle 1, and now we'll have the opportunity to continue that momentum with the 20 new rare disease organizations who have joined in Cycle 2.
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In the next year, we are looking forward to putting so much of what we've learned and built into service, both through efforts to make our work more efficient and effective, but also initiatives we're launching to help support and drive research and serve our community in new ways. We are incredibly grateful to CZI for giving us this opportunity, believing in the power of patients, and supporting us in so many ways.
Collective Voices in Glut1 Deficiency
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The Glut1 Deficiency Foundation shared some insights from our Collective Voices in Glut1 Deficiency project at both conferences this past summer, which was an in-depth survey to capture patient experiences, identify unmet needs and burdens, and help get a picture of the priorities in the community so we can ensure the research compass we've created is truly patient led.
The presentations were an initial snapshot of the results, but formal statistical analysis is taking place now so that we can provide deeper insights. |
Sandra Ojeda and Chantal Sanchez are working through a deeper dive into the results and have begun creating reports and updated slides to share these insights. We'll share one section of the survey at a time as this process is complete. We have demographic and diagnostic information to share now on our website if you'd like to learn more.
Science Highlights
Hello! In this issue of our special science feature, I want to highlight the first virtual Research Roundtable for the Glut1 Deficiency Foundation, which took place on January 21, 2022. The purpose of the meeting was to provide a forum for scientists and clinicians to share updates on current projects, engage in discussions, and foster collaborations so that we can accelerate progress toward our vision:
We dream of a brighter future where Glut1 Deficiency will be easy to diagnose early, treat effectively, and cure completely.
We welcomed 32 attendees including researchers, dietitians, clinicians, and featured presenters. The meeting started with a brief summary of projects currently taking place in the foundation, such as our newly published Research Compass, the natural history study, which will be launching this summer, and research tools available, such as biorepositories and mouse models.
Kathrine Haavardsholm is a Registered Dietitian from the National Centre for Epilepsy and Centre for Rare Epilepsy Related Diagnoses – from Oslo Norway. The title of her talk was: Norwegian Glut1 Deficiency Population Data.
Prof. Dr. Jörg Klepper is a pediatric and pediatric neurology professor at Aschaffenburg Children’s Hospital, in Würzburg University – Germany. The titles of his talks were Evaluation of Glut1 Metafora Immunoassay for Diagnosis of Glut1DS and German Research Strategy to Characterize the Speech Disorder in Glut1DS.
Kit Donohue is a graduate student from the lab of Dr. Matthew Gentry at the University of Kentucky in Lexington. She talked about Genotype/Phenotype Correlations and some work they've done in this effort for Lafora Disease and now for the SLC2A1 gene.
The last speaker of the meeting was Dr. Matthew Gentry, our Science Advisor. Dr. Gentry has a lab in the Department of Molecular and Cellular Biochemistry, at the University of Kentucky. The title of his talk was Assessment of Glycogen in Glut1DS.
We wrapped up with small breakout rooms, where the participants could meet and discuss different topics. It was truly a wonderful experience to have gathered so many devoted and motivated participants and to have been able to incentivize new collaborations and networking. We hope the conversations started will bring many opportunities for progress toward our vision.
The Research Roundtables will take place quarterly, and the next one will be in April. Please make sure you are signed up for the Professional Network to get information on future meetings and other important updates for the scientific community.
We dream of a brighter future where Glut1 Deficiency will be easy to diagnose early, treat effectively, and cure completely.
We welcomed 32 attendees including researchers, dietitians, clinicians, and featured presenters. The meeting started with a brief summary of projects currently taking place in the foundation, such as our newly published Research Compass, the natural history study, which will be launching this summer, and research tools available, such as biorepositories and mouse models.
Kathrine Haavardsholm is a Registered Dietitian from the National Centre for Epilepsy and Centre for Rare Epilepsy Related Diagnoses – from Oslo Norway. The title of her talk was: Norwegian Glut1 Deficiency Population Data.
Prof. Dr. Jörg Klepper is a pediatric and pediatric neurology professor at Aschaffenburg Children’s Hospital, in Würzburg University – Germany. The titles of his talks were Evaluation of Glut1 Metafora Immunoassay for Diagnosis of Glut1DS and German Research Strategy to Characterize the Speech Disorder in Glut1DS.
Kit Donohue is a graduate student from the lab of Dr. Matthew Gentry at the University of Kentucky in Lexington. She talked about Genotype/Phenotype Correlations and some work they've done in this effort for Lafora Disease and now for the SLC2A1 gene.
The last speaker of the meeting was Dr. Matthew Gentry, our Science Advisor. Dr. Gentry has a lab in the Department of Molecular and Cellular Biochemistry, at the University of Kentucky. The title of his talk was Assessment of Glycogen in Glut1DS.
We wrapped up with small breakout rooms, where the participants could meet and discuss different topics. It was truly a wonderful experience to have gathered so many devoted and motivated participants and to have been able to incentivize new collaborations and networking. We hope the conversations started will bring many opportunities for progress toward our vision.
The Research Roundtables will take place quarterly, and the next one will be in April. Please make sure you are signed up for the Professional Network to get information on future meetings and other important updates for the scientific community.
Hope in Motion - Million Dollar Bike Ride
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Thanks to donations from the Glut1 Deficiency community and a $30,000 matching grant from the Penn Medicine Orphan Disease Center, the Glut1 Deficiency Foundation is very pleased to announce the project selected for the 2021 Million Dollar Bike Ride grant.
Dr. Christina Gurnett from Washington University St. Louis has received a grant for $64,465 for multiplex analysis of variant effects for the SLC2A1 gene, and a summary of the project is below. We are so thankful for all who help us with this important component of our mission to support and fund research. |
Message from Dr. Gurnett:
Glut1 Deficiency encompasses a spectrum of neurological disorders, including early onset seizures, as well as later onset movement disorders and epilepsy. Although these disorders have traditionally been diagnosed by analyzing cerebral spinal fluid, many patients are now identified by sequencing of the causative gene SLC2A1. Unfortunately, many patients have variants that have never been seen before, making it difficult to determine whether the variants are causative (pathogenic) or have no effect on human health (benign). We have developed an efficient growth assay to quantify the functional effect of SLC2A1 missense variants, and will now use this assay to test every variant in SLC2A1. The ultimate goal of our work is to generate a “look-up table” that clinicians can use to improve the diagnosis and prediction of outcome at the time a patient is sequenced. This will allow us to determine with more certainty whether a child has Glut1 deficiency and the types of health challenges that they are likely to encounter.
Glut1 Deficiency encompasses a spectrum of neurological disorders, including early onset seizures, as well as later onset movement disorders and epilepsy. Although these disorders have traditionally been diagnosed by analyzing cerebral spinal fluid, many patients are now identified by sequencing of the causative gene SLC2A1. Unfortunately, many patients have variants that have never been seen before, making it difficult to determine whether the variants are causative (pathogenic) or have no effect on human health (benign). We have developed an efficient growth assay to quantify the functional effect of SLC2A1 missense variants, and will now use this assay to test every variant in SLC2A1. The ultimate goal of our work is to generate a “look-up table” that clinicians can use to improve the diagnosis and prediction of outcome at the time a patient is sequenced. This will allow us to determine with more certainty whether a child has Glut1 deficiency and the types of health challenges that they are likely to encounter.
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Team Glut1 is thankful for the opportunity to participate in the 2022 Million Dollar Bike Ride on June 11, 2022. Stay tuned for more details about how you can participate this year, double your research donations, and help drive progress!
Seizure Action Plans
Our friends in the Rare Epilepsy community have created an initiative around raising awareness about the importance of having seizure action plans and have provided some resources to help families create them. Watch the brief video to learn more and find more information at the link below.
Drew
We've been so sad about the passing of Drew Hemlock. He was a bright light in our community and such an example of genuine and unconditional love, acceptance, joy, friendship, and courage. He filled our hearts, made lives better, and inspired so many.
From the very beginning, the Hemlock family has been one of the solid rocks in the foundation the G1DF has been built on. They've attended every gathering, helped with every project, and supported and cheered on many other families by sharing their own experiences and words of encouragement. They've blazed many trails and shown us how to embrace life - even amid the challenges - and taught us to always find some sunshine. They gave us such a gift in Drew.
You can read about his wonderful life in his obituary, watch the memorial service, and read a special message from his family.
From the very beginning, the Hemlock family has been one of the solid rocks in the foundation the G1DF has been built on. They've attended every gathering, helped with every project, and supported and cheered on many other families by sharing their own experiences and words of encouragement. They've blazed many trails and shown us how to embrace life - even amid the challenges - and taught us to always find some sunshine. They gave us such a gift in Drew.
You can read about his wonderful life in his obituary, watch the memorial service, and read a special message from his family.
Meet Eleanor
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Eleanor is an adorable 2 year old who has faced challenges getting a proper diagnosis. Even though she had symptoms and lumbar puncture results that indicated Glut1 Deficiency, she was overlooked because genetic testing didn't find a variant in her SLC2A1 genes. Thanks to her persistent parents, she has a diagnosis now, has started a ketogenic diet, and is showing improvements already. Eleanor and her family are participating in the Rare Genomes Project to help other families, too. |
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Rare Epilepsy Advocacy
The Epilepsy Foundation has a special feature called e-Journeys where patients and families can share brief glimpses into their epilepsy experiences. Glut1 Deficiency Foundation Executive Director, Glenna Steele, was asked to submit an e-Journey as part of the Rare Epilepsy Network and the special focus on rare epilepsies leading up to Rare Disease Day. You can read it here.
Southwest Cycling Club - Love Some1 with Glut1 Ride
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After a brief Covid hiatus, Southwest Cycling Club (SWCC) is once again happy to host a special Love Some1 with Glut1 Ride to raise funds for the Glut1 Deficiency Foundation in their annual online fundraiser occurring Feb 14 through Rare Disease Day on Feb 28 (Feb 29 in Leap Years). This organization comes to us for a very special reason: member Juan Reyes' daughter Sofia. Sofia was born with Glut1 deficiency, a rare genetic condition that affects brain metabolism.
All funds raised will go to the Glut1 Deficiency Foundation in their efforts to raise awareness and to improve the lives of those in the Glut1 Deficiency community. |
Golf Tournament
Reid's family is hosting a golf tournament to benefit the Glut1 Deficiency Foundation. They are inviting all families in the area to join them for this day of awareness, games, food, and fun...even if you don't play golf!. Please visit the special campaign page or contact Reid's dad, Sam, if you are interested in attending or to find out more information.
We sincerely thank the Sinclair family for this exciting and fun event, the awareness it will raise, and the funds it will provide to keep our mission moving forward...and we thank Reid for the inspiration!
We sincerely thank the Sinclair family for this exciting and fun event, the awareness it will raise, and the funds it will provide to keep our mission moving forward...and we thank Reid for the inspiration!
Shine Like Some1 with Glut1 Gear
We had requests to make t-shirts with our Shine Like Some1 with Glut1 logo for our video theme this year, so we put together a quick and easy shirt sale to go along! All profits will go toward the Love Some1 with Glut1 campaign totals and help fund projects in our new Research Compass.
Shop our Custom Ink fundraiser today at the link below, and find out more about shipping and customs for international orders here.
Sale ends on February 28th - with delivery approximately 2 weeks later
Shop our Custom Ink fundraiser today at the link below, and find out more about shipping and customs for international orders here.
Sale ends on February 28th - with delivery approximately 2 weeks later
- T-shirts available in unisex Youth XS to Adult 4XL
- T-shirts available in short and long sleeves
- All shirts are 6 ounce 100% pre-shrunk cotton from Hanes Authentic
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Volunteer
We are planning a reboot of our Volunteer Network, starting with a Zoom meeting on March 10th for those interested to learn more. As the G1DF grows, it is even more important to develop a strong volunteer program to help make sure we have a wide range of perspectives, experiences, skills, and ideas so that can work better, easier, and faster...and our loved ones will be the beneficiaries.
We are grateful to those who have already signed up, and we appreciate your patience as this effort has languished throughout the challenges of the pandemic. We are excited for a fresh start, and if you haven't signed up yet for the Volunteer Network, you can do that here. We'll send out an invitation to the March 10th meeting to those who have completed the Volunteer Network form. If you haven't yet and would like to be included, please sign up - thank you!
We are grateful to those who have already signed up, and we appreciate your patience as this effort has languished throughout the challenges of the pandemic. We are excited for a fresh start, and if you haven't signed up yet for the Volunteer Network, you can do that here. We'll send out an invitation to the March 10th meeting to those who have completed the Volunteer Network form. If you haven't yet and would like to be included, please sign up - thank you!
Community Building
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Find more information on our website about our regular Glut1 Gatherings on Zoom. Meetings are open to members of our Family Network with pre-registration required.
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Make sure you have signed up for the Family Network to also access the Community Connect Forum on the Discourse platform - a safe and private space to meet, share, and learn!
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Facebook & Instagram Fundraisers
We thank all the Facebook and Instagram fundraisers since the Fall edition of our newsletter. We appreciate all who have organized or donated in this way through birthday fundraisers, special events, memorials, and #GivingTuesday efforts. You've helped spread awareness and provided much-needed and impactful support. FB and IG don't provide a way to contact donors directly to thank them, so we want to acknowledge them publicly here and express our sincere gratitude. Total giving since the last newsletter is an amazing $11,602.45 - thank you each so much and to each friend who donated as well!
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