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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.

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We’re focusing on 8 major areas:

Open Source Research Tools

Cells

Glut1 - the Transporter

Metabolism

Genetics

Pathogenesis

Therapy Development

Clinical Tools

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Help us drive progress

We need faster, easier diagnosis and deeper, clearer understanding of this rare disease so we can find better ways to treat it. The burdens are many, and the patients are waiting.

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Open-Source-Research-Tools

Open Source Research Tools

Develop the most relevant and reliable tools to use for research and make them easily accessible to any researcher.

Questions and Topics for Focus

  • Determine or develop the best cell and animal models for research
  • Standardize the research assays and procedures
  • Determine and/or develop the best research and clinical tools
See all questions and topics
List of Research tools
 
 
 
 

 

Focused on this Topic

Contact us if you'd like your team or lab included.

Juan Pascual, MD, PhD
UT Southwestern Medical Center
Dallas, Texas USA

Cells

Cells

More clearly define the cell types involved in the disease, their locations in the body, and which ones can and should be targeted for treatment.

Questions and Topics for Focus

  • Clearly determine which cells are involved in the disease mechanism
  • Identify where the impacted cells are located and/or isolated
  • Develop comprehensive, diverse, and representative cell lines
See all questions and topics

Red blood cells as glucose carriers to the human brain: Modulation of cerebral activity by erythrocyte exchange transfusion in Glut1 deficiency (G1D)

GLUT1 ablation in astrocytes paradoxically improves central and peripheral glucose metabolism via enhanced insulin-stimulated ATP release (2022)

A mathematical model of GLUT1 modulation in rods abd RPE and its differential impact in cell metabolism (2022)

PPARg alleviates peritoneal fibrosis progression along with promoting GLUT1 expression and suppressing peritoneal mesothelial cell proliferation (2022)

High MST2 expression regulates lens epithelial cell apoptosis in age-related cataracts through YAP1 targeting GLUT1 (2022)

miR-582 negatively regulates pre-B cell proliferation and survival through targeting Hif1a and Rictor (2022)

Glucose uptake by GLUT1 in photoreceptors is essential for outer segment renewal and rod photoreceptor survival (2022)

Dysregulated GLUT1 may be involved in the pathogenesis of preeclampsia by impairing decidualization (2022)

Effect of hypoxia on Glucose transporter 1 and 3 gene expression in placental mesenchymal stem cells derived from growth-restricted fetuses (2022)

Endothelium-derived lactate is required for pericyte function and blood-brain barrier maintenance (2022)

Thioredoxin interacting protein drives astrocytic glucose hypometabolism in corticosterone-induced depressive sate (2021)

Bidirectional astrocytic GLUT1 activation by elevated extracellular K+ (2020)

Role of the GLUT1 Glucose Transporter in Postnatal CNS Angiogenesis and Blood-Brain Barrier Integrity (2020)

Glucose transporter 1 critically controls microglial activation through facilitating glycolysis (2019)

 
 

 

Focused on this Topic

Contact us if you'd like your team or lab included.

Juan Pascual, MD, PhD
UT Southwestern Medical Center
Dallas, Texas USA

Abraham Al-Ahmad, PhD
Texas Tech University
Amarillo, Texas USA

Ivy Samuels, PhD
Louis Stokes VA Medical Center, Cole Eye Institute - Cleveland Clinic
Cleveland, Ohio USA

Glut1-The-Transporter-Protein

Glut1 - The Transporter Protein

Better understand the function of Glut1, what influences that function, and how malfunctions can be corrected.

Questions and Topics for Focus

  • Better understand the function of Glut1 throughout the body
  • Determine how Glut1 behavior is influenced and regulated
  • Identify methods to correct malfunctions
See all questions and topics
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 

 

Focused on this Topic

Contact us if you'd like your team or lab included.

Felipe Barros, MD, PhD
Centro de Estudios Científicos
Valdivia, Chile

Prof. Dr. Katrien De Bock
ETH Zürich
Zürich, Switzerland

Prof. Dr. Jörg Klepper
Aschaffenburg Children's Hospital
Aschaffenburg, Germany

Amy Nelson, PhD
University of South Alabama
Mobile, Alabama  USA

Juan Pascual, MD, PhD
UT Southwestern Medical Center
Dallas, Texas USA

Metabolism

Metabolism

Better understand the metabolic functions that are impaired by Glut1 Deficiency and identify ways to compensate.

Questions and Topics for Focus

  • Better understand the role of glucose in metabolism
  • Identify other metabolites, enzymes, substrates, and pathways involved
  • Find methods to compensate for metabolic defects
See all questions and topics

PFKFB2-mediated glycolysis promotes lactate-driven continual efferocytosis by macrophages (2023)

Red blood cells as glucose carriers to the human brain: Modulation of cerebral activity by erythrocyte exchange transfusion in Glut1 deficiency (G1D) (2022)

Glut1 is a highly efficient L-fucose transporter (2022)

AMPK-mediated potentiation of GABAergic signalling drives hypoglycaemia-provoked spike-wave seizures (2022)

Metabolic recruitment of brain tissue (2022)

Metabolic modulation of synaptic failure and thalamocortical hypersynchronization with preserved consciousness in Glut1 deficiency (2022)

Novel CSF biomarkers of GLUT1 deficiency syndrome: implications beyond the brain’s energy deficit (2022)

GLUT1 production in cancer cells: a tragedy of the commons (2022)

Role of the gut-brain axis in energy and glucose metabolism (2022)

AMPK in the brain: its roles in glucose and neural metabolism (2022)

Potential mechanisms to modify impaired glucose metabolism in neurodegenerative disorders (2022)

Glucose metabolic crosstalk and regulation in brain function and diseases (2021)

Glucose, glycolysis, and neurodegenerative diseases (2020)

Regional differences in brain glucose metabolism determined by imaging mass spectrometry (2018)

Glucose sparing by glycogenolysis (GSG) determines the relationship between bain metabolism and neurotransmission (2022)

Fluoxetine increases astrocytic glucose and glycolysis in corticosterone-induced depression through restricting GR-TXNIP-GLUT1 pathway (2022)

Endothelium-derived lactate is required for pericyte function and blood-brain barrier maintenance (2022)

Glut1 deficiency syndrome: New and emerging insights into a prototypical brain and energy failure disorder (2021)
 
Glia-neuron energy metabolism in health and diseases:  New insights into the role of the nervous system metabolic transporters (2018)

Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet (2017)

PKCs Sweeten Cell Metabolism by Phosphorylation of Glut1 (2015)

Focused on this Topic

Contact us if you'd like your team or lab included.

Felipe Barros, MD, PhD
Centro de Estudios Científicos
Valdivia, Chile

Prof. Dr. Katrien De Bock
ETH Zürich
Zürich, Switzerland

Matthew Gentry, PhD
University of Florida
Gainesville, Florida USA

Juan Pascual, MD, PhD
UT Southwestern Medical Center
Dallas, Texas USA

Prof. Dr. Michél Willemsen
Radboud University Medical Center
Nijmegen, Netherlands

Robin Williams, PhD
Royal Holloway
London, England

Genetics

Genetics

Identify all the genes that may play a role in Glut1 Deficiency, how defects in the genes contribute to disease, and how their function can be repaired.

Questions and Topics for Focus

  • Better understand the functional implications of variants
  • Clarify genotype/phenotype relationships
  • Identify regulators of gene expression
See all questions and topics

Genetic Modulation of the Glut1 Transporter Expression - Potential Relevance in Complex Diseases

The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1 (2022)

Effect of the R126C mutation on the structure and function of the glucose transporter GLUT1: A molecular dynamics simulation study (2022)

Clinical and Genetic Characteristics of Chinese Children With GLUT1 Deficiency Syndrome: Case Report and Literature Review (2021)

The glucose transporter type 1 (Glut1) syndromes (2018)

GLUT1-deficiency syndrome: Report of a four-generation Norwegian family with a mild phenotype (2017)

Glut1 deficiency syndrome: New and emerging insights into a prototypical brain and energy failure disorder(2021)

Phenotypic and Genotypic Spectrum of Glucose Transporter-1 Deficiency Syndrome (2021).

​Variety of Symptoms of GLUT1 Deficiency Syndrome in Three-Generation Family (2020)

Mechanistic Insights into Protein Stability and Self-aggregation in Genetic Variants Causing GLUT1-Deficiency Syndrome (2020)

​A frame-shift deletion in the PURA gene associates with a new clinical finding: Hypoglycorrhachia. Is GLUT1 a new PURA target? (2018)

Mutations in Disordered Regions  Can Cause Disease by Creating Dileucine Motifs (2018)

​Mutational and functional analysis of Glucose transporter I deficiency syndrome (2015)

Pathogenic mutations causing glucose transport defects in GLUT1 transporter: The role of intermolecular forces in protein structure-function (2015)

Absence of SLC2A1 Mutations Does Not Exclude Glut1 Deficiency Syndrome (2013)

Evaluation of non-coding variation in GLUT1 deficiency (2016)

Screening of SLC2A1 in a large cohort of patients suspected for Glut1 deficiency  syndrome: identification of novel variants and associated phenotypes (2019)

Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group (2020)

GENE THERAPY

 
 
 

Focused on this Topic

Contact us if you'd like your team or lab included.

Kris Engelstad, MS, CGC
Columbia University Medical Center
New York City, USA

Umrao Monani, PhD
Columbia University
New York City, USA

Juan Pascual, MD, PhD
UT Southwestern Medical Center
Dallas, Texas USA

Pathogenesis

Pathogenesis

Better define the clinical course of Glut1 Deficiency, what causes the symptoms, and why they change over time.

Questions and Topics for Focus

  • Better understand the patient journey
  • Clarify and explain the long term clinical course
  • Identify synergies with other Glut1-involved diseases
See all questions and topics

Red blood cells as glucose carriers to the human brain: Modulation of cerebral activity by erythrocyte exchange transfusion in Glut1 deficiency (G1D)

Metabolic modulation of synaptic failure and thalamocortical hypersynchronization with preserved consciousness in Glut1 deficiency (2022)

AMPK-mediated potentiation of GABAergic signalling drives hypoglycaemia-provoked spike-wave seizures

Glut1 deficiency syndrome throughout life: clinical phenotypes, intelligence, life achievements and quality of life in familial cases (2022)

Head circumference in glucose transporter 1 deficiency syndrome: Normal for individuals, abnormal as a group (2022)

One Molecule for Mental Nourishment and More: Glucose Transporter Type1 - Biology and Deficiency Syndrome (2022)

Intermittent Alternating Eye-Head Synkenesia in Glut1 Deficiency Syndrome (2021)

Study of paediatric patients with the clinical and biochemical phenotype of glucose transporter type1 deficiency syndrome (2021)

Novel insight into GLUT1 Deficiency Syndrome: screening for emotional and behavioral problems in youths following ketogenic diet (2021)

Clinical and Genetic Characteristics of Chinese Children With GLUT1 Deficiency Syndrome: Case Report and Literature Review (2021)

Phenotypic and Genotypic Spectrum of Glucose Transporter-1 Deficiency Syndrome (2021)

Hemiplegic Migraine in Glut1 Deficiency Syndrome and Paroxysmal Dyskinesia at Ketogenic Diet Induction: Case Report and Literature Review (2020)

Glut1 deficiency syndrome: New and emerging insights into a prototypical brain and energy failure disorder (2021)  

GLUT1 deficiency:  Retinal detrimental effects of gliovascular modulation (2020)

Keeping Glucose transporter Type 1 Deficiency Syndrome in MInd: A Late Diagnosis and Unusual Neuroimage Findings (2019)

Glucose Transporter Type I Deficiency (G1D) at 25 (1990-2015): Presumptions, Facts, and the Lives of Persons With This Rare Disease (2015)

Long-Term Clinical Course of Glut1 Deficiency Syndrome (2015)

GLUT1 deficiency syndrome into adulthood: a follow-up study (2014)

Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group (2020)

​Glucose Transporter Type 1 Deficiency Syndrome:  Gene Reviews (2002)

Focused on this Topic

Contact us if you'd like your team or lab included.

Prof. Dr. Jörg Klepper
Aschaffenburg Children's Hospital
Aschaffenburg, Germany

Umrao Monani, PhD
Columbia University
New York City, USA

Juan Pascual, MD, PhD
UT Southwestern Medical Center
Dallas, Texas USA

Therapy-Development

Therapy Development

Better understand the benefits and limitations of current therapies and develop new and better ones.

Questions and Topics for Focus

  • Develop better, easier treatments for all symptoms
  • Optimize ketogenic dietary therapies
  • Target treatment outcomes most meaningful for patients and families
See all questions and topics

Maximum dose, safety, tolerability and ketonemia after triheptanoin in glucose transporter type 1 deficiency (G1D) (2023)

Identification of glucose transport modulators in vitro and method for their deep learning neural network behavioral evaluation in Glut1 deficient mice (2022)

Red blood cells as glucose carriers to the human brain: Modulation of cerebral activity by erythrocyte exchange transfusion in Glut1 deficiency (G1D) (2022)

Glut1 is a highly efficient L-fucose transporter (2022)

Lactate infusion as therapeutical intervention: a scoping review (2022)

A randomized, double-blind trial of triheptanoin for drug-resistant epilepsy in glucose transporter 1 deficiency syndrome (2022)

Classic Ketogenic Diet and Modified Atkins Diet in SLC2A1 Positive and Negative Patients with Suspected GLUT1 Deficiency Syndrome: A Single Center Analysis of 18 Cases (2021)

Glut1 deficiency syndrome: New and emerging insights into a prototypical brain and energy failure disorder (2021)

GLUT1 Deficiency Syndrome-Early Treatment Maintains Cognitive Development? (Literature Review and Case Report) (2021)

Exploring diazoxide and continuous glucose monitoring as treatment for Glut1 deficiency syndrome (2021)

Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group (2020)

Glucose transporter type 1 deficiency syndrome and the ketogenic diet (2019)

Ketogenic Diet in Patients with GLUT1 Deficiency Syndrome (2019)

Quality of Life in Chronic Ketogenic Diet Treatment: The GLUT1DS Population Perspective (2019)

Failure of ketogenic diet therapy in GLUT1 deficiency syndrome (2019)

Acetazolamide-responsive Episodic Ataxia Without Baseline Deficits or Seizures Secondary to GLUT1 Deficiency: A Case Report and Review of the Literature (2018)

Use of modified Atkins diet in glucose transporter type 1 deficiency syndrome (2016)

Use of dietary therapies amongst patients with GLUT1 deficiency syndrome (2016)
 

Outcome of ketogenic diets in GLUT1 deficiency syndrome in Japan: A nationwide survey (2016)

Therapeutic Strategies for Glucose Transporter 1 Deficiency Syndrome (2016)

New Paradigm for the Treatment of Glucose Transporter 1 Deficiency Syndrome:  Low Glycemic Index Diet and Modified High Amylopectin Cornstarch (2015)

Triheptanoin for Glucose Transporter Type I Deficiency (G1D) Modulation of Human Ictogenesis, Cerebral Metabolic rate, and Cognitive Indices by a Food Supplement (2014)

Glucose transporter deficiency syndrome (GLUT1DS) and the ketogenic diet (2008)

Focused on this Topic

Contact us if you'd like your team or lab included.

Prof. Dr. Jörg Klepper
Aschaffenburg Children's Hospital
Aschaffenburg, Germany

Eric Kossoff, MD
Johns Hopkins Hospital
Baltimore, Maryland  USA

Umrao Monani, PhD
Columbia University
New York City, USA

Amy Nelson, PhD
University of South Alabama
Mobile, Alabama  USA

Juan Pascual, MD, PhD
UT Southwestern Medical Center
Dallas, Texas USA

Robin Williams, PhD
Royal Holloway
London, England

Clinical-Tools

Clinical Tools

Develop tools to improve the diagnostic process, support better clinical care, and advance meaningful treatment development.

Questions and Topics for Focus

  • Develop better and easier biomarkers
  • Identify the most appropriate outcome measures
  • Develop a newborn screening tool
See all questions and topics

Establishment of a flow cytometry screening method for patients with glucose transporter 1 deficiency syndrome (2023)

Genetic Links to Episodic Movement Disorders: Current Insights (2023)

Spotlighting the zebras: A Role for Medical Students in Shaping Rare Disease Care (2022)

Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group (2020)

Natural History and Real-World Data in Rare Diseases: Applications, Limitations, and Future Perspectives

Metabolic modulation of synaptic failure and thalamocortical hypersynchronization with preserved consciousness in Glut1 deficiency (2022)

Positive impact of a modified Atkins diet on cognition, seizure control, and abnormal movements in an adult with glucose transporter type 1 deficiency syndrome: case report (2022)

Novel CSF biomarkers of GLUT1 deficiency syndrome: implications beyond the brain’s energy deficit (2022)

Glut1 deficiency syndrome throughout life: clinical phenotypes, intelligence, life achievements and quality of life in familial cases (2022)

Positive impact of a modified Atkins diet on cognition, seizure control, and abnormal movements in an adult with glucose transporter type 1 deficiency syndrome: case report (2022)

A randomized, double-blind trial of triheptanoin for drug-resistant epilepsy in glucose transporter 1 deficiency syndrome (2022)

Inherited metabolic diseases mimicking hereditary spastic paraplegia (HSP): a chance for treatment (2022)

Quantitative Three-Dimensional Gait Evaluation in Patients with Glucose Transporter 1 Deficiency Syndrome (2022)

Diagnostic and Clinical Manifestations Differences of Glucose Transporter Type 1 Deficiency Syndrome in a Family with SLC2A1 gene mutation (2022)

Abnormal gait and hypoglycorrhachia in a toddler with seizures (2022)

Hemidystonia and hemichorea in a pediatric patient with glucose transporter type 1 deficiency (2022)

Sleep  Disorder: An Overlooked Manifestation of Glucose Transporter Type-1 Deficiency Syndrome (2021)

Long-Term Effects of a Classic Ketogenic Diet on Ghrelin and Leptin Concentration: A 12-month Prospective Study in a Cohort of Italian Children and Adults with Glut1 Deficiency Syndrome and Drug Resistant Epilepsy (2019)

Blood test accurately detects GLUT1 Deficiency Syndrome (2017)

10 patients, 10 years - Long term follow-up of cardiovascular risk factors in Glut1 deficiency treated with ketogenic diet therapies: A prospective, multicenter case series (2018)

Overall cognitive profiles in patients with GLUT1 Deficiency Syndrome

Does ketogenic diet improve cognitive function in patients with GLUT1-DS? A 6- to 17-month follow-up study (2019)

Cerebrospinal Fluid Analysis in the Workup of GLUT1 Deficiency Syndrome: A Systematic Review (2013)

Clinical Aspects of Glucose Transporter Type 1 Deficiency:  Information From a global Registry (2017).

10 patients, 10 years - Long term follow-up of cardiovascular risk factors in Glut1 deficiency treated with ketogenic diet therapies: A prospective, multicenter case series (2018)

Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet (2017)

The role for ketogenic diets in epilepsy and status epilepticus in adults (2017)

​Payroxysmal Eye-Head Movements in Glut1 Deficiency Syndrome (2017)

Stroke mimics add to the phenotypic spectrum of Glut1 deficiency syndrome (2017)

Sporadic and familial glut1ds Italian patients: A wide clinical variability (2015)

Long-Term Clinical Course of Glut1 Deficiency Syndrome
GLUT1 deficiency syndrome into adulthood: a follow-up study (2015)

A novel SLC2A1 mutation linking hemiplegic migraine with alternating hemiplegia of childhood (2014)

Healthcare for persons with intellectual and developmental disability in the community (2014)

Triheptanoin for Glucose Transporter Type I Deficiency (G1D) Modulation of Human Ictogenesis, Cerebral Metabolic rate, and Cognitive Indices by a Food Supplement (2014)

​Glucose Transporter Type 1 Deficiency Syndrome:  Gene Reviews (2002)

Focused on this Topic

Contact us if you'd like your team or lab included.

Matthew Gentry, PhD
University of Florida
Gainesville, Florida USA

Prof. Dr. Jörg Klepper
Aschaffenburg Children's Hospital
Aschaffenburg, Germany

Juan Pascual, MD, PhD
UT Southwestern Medical Center
Dallas, Texas USA

Toni Pearson, MBBS
Nationwide Children's Hospital
Columbus, Ohio  USA

Prof. Dr. Michél Willemsen
Radboud University Medical Center
Nijmegen, Netherlands

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