2024
Glut1 Deficiency Summit
Summit Agenda
We are sharing a list of invited speakers, suggested topics, and daily schedule outline below for the 2024 Glut1 Deficiency Summit in Dallas as a sneak preview of the planned agenda. Names in bold have been confirmed as presenters.
We'll continue to add to this page with more details as plans are finalized, so please continue checking back in for updates.
scientific
WEDNESDAY, JUNE 26
UT Southwestern Campus: Thompson Family Conference Center
Opening Lunch
AFTERNOON GENERAL SESSIONS: Lightning Talks
Dallas Collaborations
- Juan Pascual, MD, PhD: research collaborations UT Southwestern
- Joseph Pancrazio, PhD: Glut1 Deficiency mouse slices UT Dallas
- Stuart Cogan, PhD: Glut1 Deficiency mouse neuronal UT Dallas
- Trey Putnam, PhD: Glut1 Deficiency mouse metabolism Texas Tech
- Levi Good, PhD: brain activity in Glut1 Deficiency mice UT Dallas
- Muhammad Shariff: isolated brain in Glut1 Deficiency UT Southwestern
- Aksharkumar Dobariya, MS: modeling Glut1 Deficiency in a pig UT Southwestern
- Richard Wang MD, PhD: red blood cell exchange UT Southwestern
- Ravi Sarode, MD: red blood cell exchange UT Southwestern
- Zhenpeng Qin, PhD: therapeutic delivery into the CNS with optical resolution UT Dallas
- Jianzhong Su, PhD: source of seizures in Glut1 Deficiency UT Arlington
- Vikram Jakkamsetti, MD, PhD: cell activity in Glut1 Deficiency UT Southwestern
- Craig Malloy, MD: 7 Tesla MRI brain metabolism imaging in Glut1 Deficiency UT Southwestern
- Andrea Gropman, MD: infrared studies of brain activity in Glut1 Deficiency Children's National
- Bruce Posner, PhD: high throughput screening UT Southwestern
Poster Session and Reception
scientific
THURSDAY, JUNE 27
Omni Dallas Downtown
GENERAL SESSIONS:
Epilepsy and Circuits
- Juan Pascual, MD, PhD: thalamacortical focus in Glut1 Deficiency UT Southwestern
- John Huguenard, PhD: thalamacortical circuits Stanford
- Mark Beenhakker, PhD: glucose roles in circuits and signaling University of Virginia
- Jeffrey Noebels, MD, PhD: genetic absence epilepsy Baylor
Glut1 and SLC2A1
- Umrao Monani, PhD: gene therapy Columbia University
- Christina Gurnett, MD, PhD: multiplex variant analysis Washington University
- Caroline Pearson, PhD: Glut1 in neural progenitor cells Weill Cornell
Brain Metabolism
- Matthew Gentry, PhD: central role of glucose in brain metabolism University of Florida
- Pierre Magistretti, MD, PhD: critical lactate King Abdullah University of Science and Technology
- Hudson Freeze, PhD: Glut1 and fucose Sanford Burnham Prebys
- Ramon Sun, PhD: glycogen University of Florida
- Rhagopal Sekhar, MD: GlyNac and glutathione Baylor
Closing and Next Steps
- Juan Pascual, MD, PhD UT Southwestern George Umanah, PhD NINDS
Summit Social - science, clinical, family attendees
clinical
FRIDAY, JUNE 28
Omni Dallas Downtown
GENERAL SESSIONS:
Overview and Symptoms
- Darryl De Vivo, MD: history Emeritus - Columbia University
- Prof. Dr. Jörg Klepper: clinical overview Children's Hospital Aschaffenburg
- Prof. Dr. Michél Willemsen: seizures Radboud University
- Toni Pearson, MBBS, MD: movements Nationwide Children's
- Alice Holland, PhD: cognition UT Southwestern
- Ruth Braden, PhD/Adam Vogel, PhD: speech and oral motor University of Melbourne
- Andrea Gropman, MD: neurodevelopment Children's National
Patient Experiences
- Sandra Ojeda, PhD: natural history study insights Glut1 Deficiency Foundation
- Mackenzie Cervenka, MD: adult experiences Johns Hopkins
- Adrian Avila, BS and Ignacio Malaga-Diequez, MD, PhD: genotype/phenotype relationships UT Southwestern and Universitario Central de Asturias
Treatments
- Jong Rho, MD: the case for ketogenic diets UC San Diego
- Juan Pascual MD, PhD: overview of potential new treatments UT Southwestern
BREAKOUT SESSIONS:
Deep Dive: Ketogenic Diets
Jong Rho, MD
Marisa Armeno, MD
Victoria Whitely, RD
- diet viersions
- infancy and breastfeeding
- supplements and labs
- managing triggers & obstacles
- care coordination
- decisions to make
Deep Dive: Puberty and Adulthood
Mackenzie Cervenka, MD
Elizabeth Felton, MD, PhD
Kelly Faltersack, RD
- hormones
- long term keto
- best practices
- care coordination
- transitions
- independence and support
- pregnancy
Deep Dive: Treatment Horizons
Juan Pascual MD, PhD:
Prof. Dr. Jörg Klepper
Prof. Dr. Michél Willemsen
- acetazolamide
- diazoxide
- triheptanoin and C7
- other MCT's
- GliaPharm
- gene therapy
- others
- decision making
GENERAL SESSIONS:
- patient panel: Ask Me Anything
- closing
Evening Social
family
SATURDAY, JUNE 29
Omni Dallas Downtown
GENERAL SESSIONS:
Session Summaries
- Juan Pascual, MD, PhD: Scientific Sessions Summary
- Prof. Dr. Jörg Klepper: Clinical Sessions Summary
Perspectives
- Sandra Ojeda, PhD and Glenna Steele: Family Perspectives
- Patient Advisory Board: Patient Perspectives
Support
- Sara Rapaport, ND: Self Support
- Texas Parent to Parent: Family Support and Advocacy
- Jess Kruger: Sibling Support
BREAKOUT SESSIONS:
Deep Dive #1: topic TBD
Deep Dive #2: topic TBD
Deep Dive #3: topic TBD
Deep Dive #4: topic TBD
Deep Dive #5: PCORI research fundamentals training
*Special SibShop sessions for siblings of all ages
*Special activities for patients and siblings of all ages on both Clinical and Family days
GENERAL SESSIONS:
- recaps from breakouts
- parent panel: Ask Me Anything
- closing
Evening Social
check back for more details as planning moves along!