2024
Glut1 Deficiency Summit
Summit Agenda
We are sharing the preliminary agenda for the 2024 Glut1 Deficiency Summit in Dallas below. Speaker names in bold are confirmed. Topics listed are general in nature and will be updated with specific presentation titles as planning moves along.
We'll continue to update this page with more details as plans are finalized, and please keep in mind there may be slight changes.
* general agenda overview below - find more detailed agenda here
scientific
WEDNESDAY, JUNE 26
Omni Dallas Downtown
Opening Lunch
AFTERNOON GENERAL SESSIONS: Lightning Talks
Team Science Collaborations
- Juan Pascual, MD, PhD: research collaborations Weill Cornell
- Joseph Pancrazio, PhD: Glut1 Deficiency mouse slices UT Dallas
- Stuart Cogan, PhD: Glut1 Deficiency mouse neuronal UT Dallas
- Levi Good, PhD: brain activity in Glut1 Deficiency mice UT Dallas
- Vikram Jakkamsetti, MD, PhD: cell activity in Glut1 Deficiency (virtual) Weill Cornell
- Trey Putnam, PhD: Glut1 Deficiency mouse metabolism Texas Tech
- Richard Wang MD, PhD: red blood cell in Glut1 UT Southwestern
- Christopher Webb, MD: red blood cell exchange UT Southwestern
- Matthew Gentry, PhD: spatial metabolism University of Florida
- Craig Malloy, MD: 7 Tesla MRI brain metabolism imaging in Glut1 Deficiency UT Southwestern
New Method Collaborations
- Andrea Gropman, MD: infrared studies of brain activity in Glut1 Deficiency Children's National
- Aksharkumar Dobariya, MS: pig model Weill Cornell
- Xiaoqian Ge, PhD: therapeutic delivery into the CNS with optical resolution UT Dallas
Poster Session and Reception
scientific
THURSDAY, JUNE 27
Omni Dallas Downtown
GENERAL SESSIONS:
Electrophysiology
- Jong Rho, MD: metabolism, circuitry, and epilepsy UC San Diego
- Mark Beenhakker, PhD: glucose roles in circuits and signaling University of Virginia
- Jianzhong Su, PhD: source of seizures in Glut1 Deficiency UT Arlington
Glut1 and SLC2A1
- Caroline Pearson, PhD: Glut1 in neural progenitor cells Weill Cornell
- Christina Gurnett, MD, PhD: multiplex variant analysis Washington University
- Maoxue Tang, PhD: low Glut1 protein and brain dysfunction Columbia University
Brain Metabolism
- Matthew Gentry, PhD: central role of glucose in brain metabolism University of Florida
- Hudson Freeze, PhD: glycosylation Sanford Burnham Prebys
- Prof. Dr. Michél Willemsen: hexokinase and glucose physphorylation Radboud University
- Paul Thornton, MD: targeting blood glucose Cook Children's
Therapy Development
- Pierre Magistretti, MD, PhD: critical lactate King Abdullah University of Science and Technology
- Umrao Monani, PhD: gene therapy Columbia University
- Rajagopal Sekhar, MD: GlyNac and glutathione Baylor
- Bruce Posner, PhD: high throughput screening UT Southwestern
- Aiman Baig, PhD candidate: Glut1 activators University of Ottowa
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 (virtual) Emeritus - Columbia University
- Prof. Dr. Jörg Klepper: clinical overview Children's Hospital Aschaffenburg
- Andrea Gropman, MD: neurodevelopment Children's National
- Prof. Dr. Michél Willemsen: seizures Radboud University
- Toni Pearson, MBBS, MD: movements Nationwide Children's
- Alice Holland, PhD: cognition UT Southwestern
- Adam Vogel, PhD: speech and oral motor University of Melbourne
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
- compliance
- 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
- triheptanoin (C7) and MCT's
- GliaPharm
- gene therapy
- movement medications
- seizure medications
- other treatments
- decisions to make
GENERAL SESSIONS:
- Patient Panel: Ask Me Anything
- Closing
Evening Social
family
SATURDAY, JUNE 29
Omni Dallas Downtown
GENERAL SESSIONS:
Summit Snapshots
- Juan Pascual, MD, PhD: scientific sessions summary
- Prof. Dr. Jörg Klepper: clinical sessions summary
Perspectives
- Sandra Ojeda, PhD: family perspectives
- Parent Panel: Ask Me Anything
Support
- Sara Rapaport, ND: caring for yourself while caring for others
- Cecilia Mendiola, CCLS: supporting the whole Glut1 child
- Jess Kruger: sibling support and Sibshops
BREAKOUT SESSIONS:
Deep Dive #1: promoting teamwork at school: IEP, 504, advocacy, support
Deep Dive #2: fostering independence and preparing for adulthood
Deep Dive #3: social relationships and challenges with Glut1 across the ages
Deep Dive #4: fostering diet independence, keto kitchen safety, diet tips and tools, kitchen hacks, sharing strategies
Deep Dive #5: PCORI Research Ready Series research fundamentals training
Additional Sessions: (times to be determined)
- Special SibShop sessions for siblings of all ages
- Special sessions for teens and adults with Dana Pottschmidt
- Special activities for patients and siblings of all ages on both Clinical and Family days
GENERAL SESSIONS:
- Recaps from Breakouts
- Closing
Evening Social
check back for more details as planning moves along!