SO MUCH gratitude for all the people who helped make this happen - a real team effort! We are thrilled to announce a $60,367 grant opportunity for Glut1 Deficiency research to drive progress toward earlier diagnosis and easier and better treatments. Visit the Glut1 Glimpses blog to learn more: https://lnkd.in/evzae8Kd
Glut1 Deficiency Foundation
Non-profit Organizations
Owingsville, KY 362 followers
help and hope for the Glut1 community
About us
The Glut1 Deficiency Foundation is a non-profit family organization dedicated to improving lives in the Glut1 Deficiency community through its mission of: -increased awareness -improved education -advocacy for patients and families -support and funding for research Also known as: Glut1 Deficiency, G1D, Glut1 DS, or De Vivo Disease; Glucose Transporter Type 1 Deficiency Syndrome is a genetic disorder that impairs brain metabolism. Glucose isn’t transported properly into the brain, leading to a wide range of neurological symptoms that don't allow the brain to function and grow normally. Glut1 Deficiency is caused by a mutation in the SLC2A1 gene, which regulates the glucose transporter protein type 1 (Glut1). Glut1 is the principal transporter of glucose, the primary source of energy, across the blood-brain barrier. More than 100 different types of mutations and deletions of this gene have been found to date in Glut1 Deficiency patients. The impaired glucose transport associated with Glut1 Deficiency causes an array of symptoms which may vary considerably from one patient to another. Some signs and symptoms may include seizures, movement disorders, speech and language disorders, and developmental delays. There are currently a few hundred patients diagnosed worldwide, but experts believe there are thousands more yet to be discovered. There is no cure for Glut1 Deficiency. The current standard of care treatment is a ketogenic diet, which helps improve most symptoms for most patients by giving the brain an alternate source of energy and helps optimize brain growth and development. The Glut1 Deficiency Foundation was formed originally in 2009. Glut1 Deficiency is such a rare diagnosis that many families, and especially our Glut1 children, have never had the experience of meeting others who share this journey. A leadership board began to emerge in early 2011. We received our 501 (c)(3) designation from the IRS in July of 2011.
- Website
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http://www.g1dfoundation.org/
External link for Glut1 Deficiency Foundation
- Industry
- Non-profit Organizations
- Company size
- 1 employee
- Headquarters
- Owingsville, KY
- Type
- Nonprofit
- Founded
- 2009
- Specialties
- Ketogenic Diet, Glut1 Deficiency, Research, Rare Diseases, glucose transporter type 1 deficiency syndrome, and glut1ds
Locations
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Primary
Get directions
P.O. Box 737
Owingsville, KY 40360, US
Employees at Glut1 Deficiency Foundation
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Sandra Ojeda
Science Director at Glut1 Deficiency Foundation
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Glenna Steele
Executive Director at Glut1 Deficiency Foundation, Rare Disease Mom
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Dana Pottschmidt, MSW, LCSW
Behavior Support Specialist at Opportunities for Positive Growth, Inc.
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Maddison Hall
Business Development Manager
Updates
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We're thrilled to share the first research publication from the Glut1 Deficiency Foundation, summarizing our recent efforts to drive patient-centered research progress. Big congratulations to Dr. Sandra Ojeda as lead author, thanks to Chantal Sanchez and Glenna Steele for being part of the team, and much gratitude to all those who support our work! https://lnkd.in/eKKm_xPm
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We send our congratulations and best wishes to Dr. Jong Rho on his new appointment as Chief of Child Neurology at Yale School of Medicine. Dr. Rho is a treasured member of our Medical and Scientific Advisory Board and an exceptional advocate for ketogenic diet therapies. We're thankful for him! Read more about this new role for Dr. Rho: https://lnkd.in/eMwuiT3v
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Please join our next Research Roundtable to hear Dr. Juan Pascual and Prof. Dr. Jörg Klepper share some highlights, take-aways, and snapshots from our recent Glut1 Deficiency Summit. Learn more and register at our website: https://lnkd.in/gGNHwUtk
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Ready to welcome patients, families, researchers and clinician to our Glut 1 Deficiency Summit from Dallas! We are kicking of with - Scientific sessions day 1. https://lnkd.in/ghY9ekJS
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The Million Dollar Bike Ride is an incredible opportunity for rare disease communities like ours to fund research and double the impact through a generous matching opportunity. The impact has been huge over the past few years, and we are fortunate to have a spot for Team Glut1 again this year on June 8th. Please learn more, join the team in person or virtually, or make a donation to help us put our hope in motion to raise $30,000 and turn it into a $60,000 Glut1 Deficiency research grant to lead to better understanding, better treatments, and hopefully one day a cure. We'll hear updates from the last two projects at the Glut1 Deficiency Summit next month! https://lnkd.in/e_DnBbhU
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Highlights from 2022....and looking ahead with excitement to our 2024 Glut1 Deficiency Summit! Join us June 26-29 to meet, share, and learn at the Omni Dallas Downtown. Registration closes June 12th, hotel discounts end on May 11th, and poster submissions are due by May 1st. https://lnkd.in/ezW2vRdK
Glut1 Deficiency Conference Highlights 2022
https://www.youtube.com/
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Join our spring Research Roundtable to hear about Dr. Elizabeth Radford's work to better understand the functional impacts of genetic variants and insights on a project from Dr. Abraham Al-Ahmad to model GLUT1 Deficiency at the blood brain barrier with iPSCs. Learn more: https://lnkd.in/gGNHwUtk
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We have enjoyed a wonderful weekend of meeting, sharing, and learning during our Research Ready Series Event in the Philadelphia area. We are so very thankful for all the families who came to learn more about the research and clinical trial process and for our guest speakers who added so much knowledge, experience, and hope - Dr. Eric Marsh, Brian Gaucher, Paige Vondran, Dr. Juan Pascual, Dr. Sandra Ojeda, and Chantal Sanchez.
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Our Glut1 Deficiency Summit is coming up in just a few weeks. We hope you are making plans to join us either in person at the Omni Dallas Downtown or virtually. Registration closes June 12th, hotel discounts end on May 11th, and poster submissions are due by May 1st. Learn more! https://lnkd.in/eH9Vc4pD
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