2021 Research Grant Recipients
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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. |
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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Prof. Dr. Michél Willemsen Radboud University Medical Center Amalia Children's Hospital Nijmegen, Netherlands Effects of Sodium Lactate Infusion in Patients With Glucose Transporter 1 Deficiency Syndrome (GLUT1DS) $26,750 grant clinicaltrials.gov |
In glucose transporter 1 deficiency syndrome (GLUT1DS) cerebral glucose uptake from the systemic blood circulation is limited, because of deficient transport of glucose across the blood-brain barrier by the transporter protein (GLUT1). Classically patients present with developmental problems, movement disorders and severe epilepsy. There is no curative treatment for GLUT1DS, and anti-epileptic drugs usually have little to no effect. The ketogenic diet, providing ketones as an alternative energy substrate for the brain is an effective treatment option for the epilepsy and movement disorders in many GLUT1DS patients. Unfortunately, not in all GLUT1DS patients the ketogenic diet has a positive effect and other treatment options for these patients are very limited.
Traditionally, lactate is seen as a waste product of glycolysis during anaerobic conditions and a marker of ischemia. Interestingly, research has shown the beneficial side of lactate as an energy source for different organs. It seems that the brain can indeed use lactate as an alternative energy metabolite, besides glucose and ketones. The aim of this study is to investigate whether lactate can be an alternative energy metabolite in the GLUT1DS brain, and reduce epileptic discharges on EEG when intravenously administered in patients with GLUT1DS.
Traditionally, lactate is seen as a waste product of glycolysis during anaerobic conditions and a marker of ischemia. Interestingly, research has shown the beneficial side of lactate as an energy source for different organs. It seems that the brain can indeed use lactate as an alternative energy metabolite, besides glucose and ketones. The aim of this study is to investigate whether lactate can be an alternative energy metabolite in the GLUT1DS brain, and reduce epileptic discharges on EEG when intravenously administered in patients with GLUT1DS.
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Juan Pascual, MD, PhD
UT Southwestern Medical Center Dallas, Texas Clinical Research Manager The Glut1 Deficiency Foundation provided a $90,000 grant to support a Clinical Research Manager position to work in the research lab of Dr. Juan Pascual. Position responsibilities will include research initiatives conducted in the lab and the establishment of a patient-centered collaborative research network and supporting programs in conjunction with the Glut1 Deficiency Foundation. |
The Clinical Research Manager will support Dr. Pascual's ongoing research projects as well as these special projects in collaboration with the Glut1 Deficiency Foundation:
- Provide support for patient registry
- Help develop a natural history data reporting program
- Support basic and translational research efforts
- Help plan scientific convenings
- Help manage the development of a collaborative research network
- Help engage patient community
