Conference 
Agenda

preliminary agenda - subject to change

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Monday, July 11  Scientific Session

10:00 AM to 2:00 PM  REGISTRATION

Opening Session

2:00-2:15 PM  Opening Welcome and Glut1 Deficiency Foundation Updates
                            Glut1 Deficiency Foundation

Glut1 Deficiency Disease Insights

2:15-3:00 PM  Glut1 Deficiency Syndrome Scientific and Clinical Overview                  
​                            Prof. Dr. Jörg Klepper:  Aschaffenburg Children’s Hospital, Aschaffenburg, Germany
3:00-3:45 PM  lab and clinic updates (title to come)
                             Juan Pascual, MD, PhD: UT Southwestern Medical Center, Dallas, Texas USA
3:45-4:15 PM  Novel CSF Biomarkers of GLUT1 Deficiency Syndrome:  Implications Beyond the Brain's Energy Deficit
                            Prof. Dr. Michèl Willemsen:  Radboud University Medical Center, Nijmegen, Netherlands
4:15-4:30 PM  BREAK

Current Research

4:30-5:00 PM  Gene therapy for Glut1 deficiency syndrome
                              Hitoshi Osaka, MD, PhD:  Jichi Medical University, Tochigi, Japan
5:00-5:30 PM  A novel Glut1 regulatory element
                              Umrao Monani, PhD:  Columbia University Irving Medical Center, New York City, New York USA
5:30-6:00 PM  research updates (title to come)
                              T.S. (Stefan) Barakat, MD, PhD:  Erasmus MC/Sophia Children’s Hospital, Rotterdam, Netherlands
6:00-6:30 PM  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

Poster Session and Reception

6:30-7:30 PM  Poster Session
6:30-8:30 PM  Reception - Kona Kai Beach

Tuesday, July 12  Scientific Session

7:00-8:00 AM  ​BREAKFAST

Glut1 in Focus

8:00-8:30 AM  Role of GLUT1 in regulating the muscle vascular niche
                              Prof. Dr. Katrien De Bock:  Swiss Federal Institute of Technology (ETH), Zurich, Switzerland
8:30-9:00 AM  Identification of GLUT1 activating compounds in a mouse model
                               Jason Park, MD, PhD:  UT Southwestern Medical Center, Dallas, Texas USA
9:00-9:30 AM  BBB modeling and drug screening (title to come)
                              Alex MacKenzie, MD, PhD:  University of Ottowa, Ottowa, Canada
9:30-10:00 AM  BREAK
10:00-10:30 AM  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
10:30-11:00 AM  Blood-brain barrier, GLUT1 and Alzheimer’s disease
                                 Berislav Zlokovic, MD, PhD:  University of Southern California, Los Angeles, California USA
11:00-11:30 AM  Glut1 is essential for normal retinal function and survival of rod photoreceptors
                                Ivy Samuels, PhD:  Cleveland VA Medical Center; Cole Eye Institute, Cleveland Clinic
11:30 AM - 12:30 PM  LUNCH

Brain Metabolism

12:30-1:00 PM  Alternative energy substrates for brain metabolism
                              Mary McKenna, PhD:  University of Maryland School of Medicine, Baltimore, Maryland USA
1:00-1:30 PM  Surprise:  GLUT1 is also a fucose transporter
                             Hudson Freeze, PhD:  Sanford Burnham Prebys Medical Discovery Institute, San Diego, California USA
1:00-1:30 PM  Leveraging spatial metabolomics and artificial intelligence to study neurodegeneration
                             Ramon Sun, PhD:  University of Kentucky, Lexington, Kentucky USA
2:00-2:30 PM  Metabolic basis in LD and Glut1 diseases
                              Matthew Gentry, PhD:  University of Kentucky, Lexington, Kentucky USA
2:30-3:00  PM  The Astrocyte-Neuron Lactate Shuttle : A pharmacological target for GluT1 Deficiency Syndrome
​                               Pierre Magistretti, MD, PhD:  GliaPharm SA, Geneva, Switzerland
​                                                                                     King Abdullah University of Science and Technology, Thuwal, Saudi Arabia
3:00-3:30 PM  BREAK

Ketogenic Diets

3:30-4:00 PM  Ketogenic Diets: History, Clinical Implementation, Scientific Foundations, and Therapeutic Spectrum
                               Jong M. Rho, MD:  University of California San Diego, California USA
4:00-4:30 PM  ketogenic diets in Glut1 Deficiency (title to come)
                               Juan Pascual, MD, PhD: UT Southwestern Medical Center, Dallas, Texas USA

Special Interest Roundtables

4:30-5:15 PM  small group discussions and facilitators:

Closing Session

5:15-5:45 PM  roundtable small group reports and sharing
5:45-6:00 PM  closing remarks and next steps
DINNER ON YOUR OWN

​Wednesday, July 13  Scientific and Family Session

Scientific Session

9:00-11:00 AM  Core Research Network Meeting
​                                discussions, debriefing, and planning
                                open invitation to those interested in growing the research network through collaboration

Scientific and Family Session

Noon-4:00 PM  REGISTRATION FOR FAMILY SESSION ATTENDEES

Welcome Social

4:00-7:00 PM
​Welcome Social Beach Party
  • ​unique social event to kick off the family conference sessions - scientific session attendees welcome!
  • chance for scientific attendees and patients and families to meet each other
  • families introduce themselves
  • fun and games
  • photo booth
  • buffet meal
  • music and dance party afterward

​Thursday, July 14  Family Session                                                                     

8:45 AM to 5:15 PM   Activity Room open (no supervision)
8:30 AM to 5:00 PM  Exhibits open
7:00-7:30 AM  ​MINDFULNESS ON THE BEACH
                               ​with Glut1 mom Vivian "Lulu" Mathis
8:00-9:00 AM BREAKFAST

General Session

9:00-9:30 AM  Welcome and Special Reports:  How Patients and Families Can Drive Research Progress
                               Glut1 Deficiency Foundation
9:30-10:15 AM  Touching the Rainbow:  The Complex Story of Glut1 Deficiency Syndrome
                              ​Prof. Dr. Jörg Klepper:  Aschaffenburg Children’s Hospital, Aschaffenburg, Germany
10:15-11:00 AM  patient and research relationships (title to come)
                                 Juan Pascual, MD, PhD   UT Southwestern Medical Center, Dallas, Texas USA
11:00-11:30 AM  BREAK
11:30 AM-12:00 NOON  Unanswered questions about diagnosis, symptoms and treatment
​                                               Toni Pearson, MBBS, MD:  Washington University | St. Louis Children’s Hospital, St. Louis, Missouri USA
12:00-12:30 PM  ​Ketogenic Diets: History, Clinical Implementation, Scientific Foundations, and Therapeutic Spectrum
                                 Jong M. Rho, MD:  University of California San Diego, California USA
12:30-1:00 PM  ​Alternatives to Ketogenic Diets:  why and when?
                              Prof. Dr. Michèl Willemsen   Radboud University Medical Center, Nijmegen, Netherlands
1:00-2:00 PM  LUNCH
2:00-2:15 PM   Group Photo
2:15-2:45 PM  Scientific Sessions summary and highlights
                            Sandra Ojeda, PhD: Glut1 Deficiency Foundation and Matthew Gentry, PhD: University of Kentucky
2:45-3:00 PM  ​research project updates (title to come)
                             T.S. (Stefan) Barakat, MD, PhD:  Erasmus MC/Sophia Children’s Hospital, Rotterdam, Netherlands
3:00-3:30 PM  BREAK

Breakout Focus Sessions

3:30-5:00​ PM  CHOOSE ONE

session 1

ADULT PATIENT EXPERIENCES AND SUPPORT:
Introduction:
Mackenzie Cervenka, MD 
Johns Hopkins Hospital - Baltimore, Maryland USA
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Family Story:
Breen Family
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Transition from pediatric to adult neurologic care:
Elizabeth Felton, MD, PhD
University of Wisconsin - Madison, Wisconsin
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Accessing services for adults with intellectual and developmental disabilities:
Dana Pottschmidt, MSW, LSW, RBC
​-------
Long-term management of ketogenic diet therapies in adults with Glut1DS:
​Tanya McDonald, MD, PhD
​Johns Hopkins Hospital - Baltimore, Maryland USA
​-------
Open discussion/Q&A

session 2

KETOGENIC KIDS - 2022 UPDATE AND Q&A SESSION:
Ketogenic Diet Overview:
Eric Kossoff, MD
Johns Hopkins Hospital - Baltimore, Maryland USA
-------
Best Practices in Ketogenic Diets and Glut1 Deficiency:
​Stacey Bessone, RDN, LDN  
Johns Hopkins All Children’s Hospital - St. Petersburg, Florida USA
​-------
Open discussion/Q&A
DINNER ON YOUR OWN
7:00-9:00 PM  EVENING SOCIAL
​                              Kona Kai Beach Hangout
                              special social event for adults with Glut1 Deficiency

Friday, July 15   Family Session

8:45 AM to 5:15 PM     Activity Room open (no supervision)
8:30 AM to 5:00 PM   Exhibits open
7:00-7:30 AM  MINDFULNESS ON THE BEACH 
                               ​with Glut1 mom Vivian "Lulu" Mathis
8:00-9:00 BREAKFAST

General Session

9:00-9:30 AM  Launching the natural history study:  telling the life-long story of Glut1 Deficiency
                              ​Glut1 Deficiency Foundation
9:30-10:00 AM  diets and diseases - acknowledging the burdens (title to come)
                                Jennifer Fabe, BSc, MSc, RD:  McMaster Children’s Hospital, Toronto, Canada
10:00-10:30 AM  Self-Care for Caregivers
                                  Sara Rapaport, ND, LMT, BCB The REN Clinic, Portland, Oregon USA
10:30-11:00 AM  Patient Panel:  Ask Me Anything
11:00-11:30 AM  ​BREAK

Breakout Focus Sessions

11:30 AM-1:00 PM  ​CHOOSE ONE

session 1

STRETCHING THE SUPPORT: 
​OT, PT, speech, cognitive insights and strategies 
​Speakers:
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

session 2

KETOGENIC DIET ALTERNATIVES:
​family perspectives and experiences
Speakers:
Community overview and precision medicine:  Glenna Steele
Diazoxide:  Chris Shelsta
C7 oil (triheptanoin):  Mike Proett
"open mic" - other experiences from audience
1:00-2:00 PM LUNCH

Breakout Focus Sessions

2:00-3:30 PM   CHOOSE ONE

session 1

FUTURE PLANNING:
independence, waivers, disability, trusts, ABLE, ARC
Speakers:
​​Disability, Medicaid, and Waivers:  Glenna Steele
Special Needs Trusts:  James Davis
​Resources and support:  The Arc of San Diego
​Gifting a good life: advice from parents
              Jim and Pat Hemlock
​              Beverly Wray
​Q&A

session 2

LIFE HACKS:  Parent to Parent
tips and strategies to make life easier
Speakers:
Life with feeding tubes - Kelly Jones
Kitchen keto tips - Dawn Martenz
Surviving rare disease parenthood - Vivian Mathis
Life with a service dog - Keri Meyers
Preparing for emergencies - Maria Rebbecchi
"open mic" - favorite tips from the audience
​Q&A
3:30-4:00 PM  BREAK

General Session

4:00-4:45 PM  Parent Panel:  Ask Me Anything
4:45-5:00 PM ​ Closing:  wrap up and sharing, next steps, announce 2024
DINNER ON YOUR OWN
7:00-9:00 PM  EVENING SOCIAL
                               movie night at the pool