Glut1 Deficiency Foundation

Working together to achieve common goals

Glenna Steele, an original founding board member and current executive director of the Glut1 Deficiency Foundation, has helped grow the Foundation and the Glut1 community. As the parent of a young adult with Glut1 Deficiency, Glenna is motivated to share her insights into the needs of the community and bring together key stakeholders to accelerate progress: “It’s easy to feel overwhelmed and defeated, but it’s also an opportunity to transform your worry, grief, sadness, and sense of helplessness into action.”

Glut1 Deficiency is caused by abnormalities in the SLC2A1 gene, which is responsible for producing and regulating the glucose transporter type 1 (Glut1). This transporter moves glucose across the blood-brain barrier to fuel the brain and assist in metabolic functions. Patients with Glut1 Deficiency don’t receive adequate glucose supply for their brains, and a range of symptoms result.

The Foundation has hosted many successful conferences and is motivated to continue fostering collaboration by joining the Rare As One Network. Glenna and her team feel fortunate to serve a community with keen interests, skills, and talents, and to establish a collaborative research network alongside them.

Research Progress & Capacity Building Updates

The Foundation has enthusiastically embraced the opportunities of joining the Rare As One Network such as coordinating training, programs, mentorships, and advisors. Fellow RAO grantees have helped provide support and strategies for a broad range of topics and projects as the Foundation works to build capacity, grow stronger, and operate more effectively. The inaugural Glut1 Deficiency scientific meeting held in June 2021 brought new researchers and science to the community and launched several new research collaborations to continue driving progress.