2022
Glut1 Deficiency Foundation Conference
Recordings and Resources
We met, we shared, we learned! It was truly a milestone meeting, and we are so thankful for everyone who helped make it happen! This gathering provided 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.
The goals of our gathering:
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Scientific sessions
MONDAY, JULY 11th
Opening Session
- Glut1 Deficiency Foundation Updates
Glut1 Deficiency Foundation
recording - Message from Dr. Darryl De Vivo
recording
Glut1 Deficiency
- Glut1 Deficiency Syndrome Scientific and Clinical Overview
Prof. Dr. Jörg Klepper: Aschaffenburg Children’s Hospital, Aschaffenburg, Germany
recording - New Treatments for G1D
Juan Pascual, MD, PhD: UT Southwestern Medical Center, Dallas, Texas USA
recording - Novel CSF Biomarkers of GLUT1 Deficiency Syndrome: Implications Beyond the Brain's Energy Deficit
Prof. Dr. Michèl Willemsen: Radboud University Medical Center, Nijmegen, Netherlands
recording
Current Research
- Gene Therapy for Glut1 Deficiency Syndrome
Hitoshi Osaka, MD, PhD: Jichi Medical University, Tochigi, Japan
recording
extra discussions - A Novel Glut1 Regulatory Element virtual presentation
Umrao Monani, PhD: Columbia University Irving Medical Center, New York City, New York USA
recording - METAglut1 - A Blood Test to Help in the Early, Simple and Fast Detection of Glut1 Deficiency Syndrome
Vincent Petit, DVM, PhD: METAFORA Biosystems, Paris, France
recording - Closing
recording
Poster Session
Scientific sessions
TUESDAY, JULY 12th
Welcome Back
- Opening Message Day 2
recording
Glut1 in Focus
- Role of GLUT1 in Regulating the Muscle Vascular Niche
Prof. Dr. Katrien De Bock: Swiss Federal Institute of Technology (ETH), Zurich, Switzerland
recording - Identification of GLUT1 Activating Compounds in a Mouse Model
Jason Park, MD, PhD: UT Southwestern Medical Center, Dallas, Texas USA
recording - Identifying Therapeutic Leads for GLUT1 Deficiency Syndrome through High Through-put FDA Drug Screen and Testing in in vitro and in vivo Disease Models
Aiman Baig: University of Ottowa, Ottowa, Canada
recording - Glucose Metabolism, GLUT1DS and the Human Blood-brain Barrier - What Can our Induced Pluripotent Stem Cell-based Model Teach Us?
Abraham Al-Ahmad, PhD: Texas Tech University Health Sciences Center, Amarillo, Texas USA
recording - Blood-brain Barrier, GLUT1 and Alzheimer’s Disease
Berislav Zlokovic, MD, PhD: University of Southern California, Los Angeles, California USA
recording - Glut1 is Essential for Normal Retinal Function and Survival of Rod Photoreceptors
Ivy Samuels, PhD: Cleveland VA Medical Center; Cole Eye Institute, Cleveland Clinic
recording
Brain Metabolism
- Alternative Energy Substrates for Brain Metabolism
Mary McKenna, PhD: University of Maryland School of Medicine, Baltimore, Maryland USA
recording - Surprise: GLUT1 is Also a Fucose Transporter
Hudson Freeze, PhD: Sanford Burnham Prebys Medical Discovery Institute, San Diego, California USA
recording - Leveraging Spatial Metabolomics and Artificial Intelligence to Study Neurodegeneration
Ramon Sun, PhD: University of Kentucky, Lexington, Kentucky USA
recording - Metabolic Basis in LD and Glut1 Diseases
Matthew Gentry, PhD: University of Kentucky, Lexington, Kentucky USA
recording - The Astrocyte-Neuron Lactate Shuttle : A Pharmacological Target for GluT1 Deficiency Syndrome
Pierre Magistretti, MD, PhD: GliaPharm SA, Geneva, Switzerland
recording King Abdullah University of Science and Technology, Thuwal, Saudi Arabia
Ketogenic Diets
- Ketogenic Diets: History, Clinical Implementation, Scientific Foundations, and Therapeutic Spectrum
Jong M. Rho, MD: University of California San Diego, California USA
recording - How to Determine When a Treatment is Working or Not
Juan Pascual, MD, PhD: UT Southwestern Medical Center, Dallas, Texas USA
recording
Special Interest Roundtables
small group topics and facilitators
- clinical care Toni Pearson, MBBS, MD
- brain metabolism Matthew Gentry, PhD
- ketogenic diets Jong M. Rho, MD
- new therapy targets Umrao Monani, PhD
- family insights Jason Meyers
Closing Session
- roundtable small group reports and sharing
- closing remarks and next steps
recording
Family sessions
THURSDAY, JULY 14th
General Session
- Welcome and Special Reports: How Patients and Families Can Drive Research Progress
Glut1 Deficiency Foundation, Dr. Anna Pfalzer, Jim and Pat Hemlock
recording summary from the Hemlocks - Touching the Rainbow: The Complex Story of Glut1 Deficiency Syndrome
Prof. Dr. Jörg Klepper: Aschaffenburg Children’s Hospital, Aschaffenburg, Germany
recording - New Findings in the G1D Brain (Human and Mouse)
Juan Pascual, MD, PhD UT Southwestern Medical Center, Dallas, Texas USA
recording - Unanswered Questions about Diagnosis, Symptoms and Treatment
Toni Pearson, MBBS, MD: Washington University | St. Louis Children’s Hospital, St. Louis, Missouri USA
recording - Ketogenic Diets: History, Clinical Implementation, Scientific Foundations, and Therapeutic Spectrum
Jong M. Rho, MD: University of California San Diego, California USA
recording - Diazoxide: Old Drug, New Tricks
Santhi Logel, MD: University of Wisconsin - Madison, Madison, Wisconsin, USA
recording - Scientific Sessions Summary and Highlights
Sandra Ojeda, PhD: Glut1 Deficiency Foundation and Matthew Gentry, PhD: University of Kentucky
recording
Breakout Focus Session A
SESSION 1
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ADULT PATIENT EXPERIENCES AND SUPPORT:
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SESSION 2
KETOGENIC KIDS - 2022 UPDATE AND Q&A SESSION:
Case-based presentation followed by discussion. Bring your toughest keto questions!
Case-based presentation followed by discussion. Bring your toughest keto questions!
- Eric Kossoff, MD
Johns Hopkins Hospital - Baltimore, Maryland USA - Stacey Bessone, RDN, LDN
Johns Hopkins All Children’s Hospital - St. Petersburg, Florida USA - Open discussion/Q&A
Family sessions
FRIDAY, JULY 15th
General Session
- Launching the Natural History Study: Telling the Life-long Story of Glut1 Deficiency
Glut1 Deficiency Foundation, Dr. Terry Jo Bichell
recording - Practicalities of Ketogenic Diets – Acknowledging the Burdens & Moving Towards Sustainable Therapy
Jennifer Fabe, BSc, MSc, RD: McMaster Children’s Hospital, Toronto, Canada
recording - Self-Care for Caregivers
Sara Rapaport, ND, LMT, BCB The REN Clinic, Portland, Oregon USA
recording slides - Patient Panel: Ask Me Anything
recording
Breakout Focus Session B
SESSION 2
STRETCHING THE SUPPORT:
OT, PT, speech, cognitive insights and strategies
Speakers and Topics:
- Cognitive Insights: Ana Hernandez, MS, CBIS
- Occupational Therapy: Erin Meisner, OT
- Speech Therapy: Catherine Dabasinskas, MA, CCC-SLP
- Physical Therapy: Jennifer Blazer, PT and Hannah Walter, PT
recording
Breakout Focus Session C
SESSION 2
LIFE HACKS:
Parent to parent tips and strategies to make life easier
Speakers and Topics:
Exhibitors and Sponsors
