Resources for the LBSL Patient and Scientific Conference.
Previous Conference Recaps
Introductions & First Presentation
Genotype-Phenotype Associations in LBSL
Clinical Trials: What do they look like and feel like?
LBSL Outcome Measures for Trials
LBSL and Gene Therapy Q&A Panel
Magnetic Resonance Spectroscopy: How to use it for biomarker development in LBSL
Taking Care of Ourselves: Panel on wellness, energy conservation and mental health
From Surviving to Thriving: Navigating Physical Therapy and Rehabilitation When the Roadmap Doesn't Exist
Learning with LBSL: Panel on education and schools
Patient Registries: Opportunities and why to participate
Thank you to all those who helped make the 2024 LBSL Conference such a success.
This was an outstanding landmark event for LBSL. The LBSL team has grown into an international community that includes multiple research groups and patients from all over the world.
Presentations from the event can be viewed below:
Welcome & Introductions
Presenter: Ali Fatemi, MD, MBA
LBSL Natural History and Advancing Towards Clinical Trial Readiness
Presenter: Amena Smith Fine, MD, PhD
Viral Infection in Children with Mitochondrial Disease
Presenter: Peter J. McGuire, MS, MBBCh
Infections and Immunity in Mitochondrial Disease
Presenter: Eliza Gordon-Lipkin, MD
Understanding Patient-Focused Drug Development: A Regulatory Overview
Presenter: Michele Campbell, PhD
Panel Discussion on What are Genetic Medicines
Panel Discussion on Caring for Medically Complex Individuals
Panel Discussion on Sleep, Energy and Rest
Rehabilitation and Exercise
Presenter: Jennifer Keller, PT
Yoga Session
RNA-Targeting Therapies for Monogenic Disorders
Presenter: Kahtryn H. Morelli, PhD
Alternative Functions of tNRA Synthetases and Their Consequences
Presenter: Haissi Cui
Modeling LBSL; A Mouse Model with Human Pathogenic Variants
Presenter: Marc Engelen
Precision Mitochondrial Medicine
Presenter: Marni J. Falk, MD, FACMG
Non-Traditional DARS2 Model Systems
Presenter: Cristina Remes, PhD
Introduction to RPG Genetic Prevalence Study
Presenter: Carmen Glaze
Translator; Funded by the NIH's Center for Advancing Translation Science
Presenter: Tyler F. Beck, PhD
Thank you to all those who helped make the 2022 LBSL Conference such a success.
This in-person and virtual event brought together patients and families from around the globe. They learned from one another and heard from some of the world's top doctors and scientists specializing in leukodystrophies.
Presentations from the event can be viewed below:
Welcome & Introductions
Presenter: Ali Fatemi, MD, MBA
LBSL Natural History Study: An Update of 3 Years of Tracking Patient Changes Using Virtual Assessments
Presenter: Amena Smith Fine, MD, PhD
Mitochondrial Cocktails: How to Access
Presenter: Hilary Vernon, MD, PhD
Patient Advocacy Updates
Presenter: Michael McGinn
Patient Advocacy Updates
Presenter: Melody Kisor
Physical Therapy and LBSL: Management and Treatment Strategies with Demo
Presenter: Jennifer Keller, MS, PT
- Presentation Video
- Resources
Sick Days & Emergency Protocols: Helpful and Potentially Harmful
Presenter: Mark Korson, MD
Rehab Medicine and Tone Management — Transitions
Presenter: Nancy Yeh, MD
What are we trying to achieve with basic research?
Presenter: Ali Fatemi, MD, MBA
rRNA Synthetases - What Do They Do?
Presenter: Christopher Francklyn, PhD
Moser Center Lab Research Update: An Overview of Progress and Current Work
Presenter: Christina Nemeth Mertz, PhD and team
LBSL Research Around the Globe
Presenter: Jose Abdenur, MD
LBSL Research Around the Globe
Presenter: Enrico Bertini, MD
Improving Your Care and Quality of Life in LBSL
Presenter: Melanie Brown, MD
How to Prepare for an IEP Meeting
Presenter: Molly O'Brien
The Current Gene Therapy Landscape: Opportunities and Challenges in Advancing LBSL Gene Correction in Humans
Presenter: Florian Eichler, MD
The LBSL Conference was held virtually November 14-16.
It was a success, with more than 70 people in attendance, representing 14 countries and 4 continents.
View the video sessions from the conference
Thank you to all those who helped make "Help for Today, Hope for Tomorrow," the first annual LBSL Conference, such a success.
This two-day event brought together patients and families from around the globe to learn from one another and to hear some of the world's top doctors and scientists specializing in leukodystrophies.
Presentations from the event can be viewed below:
Clinical Discussion of LBSL and Clinical Trial
Presenter: Ali Fatemi, MD, MBA
Management of Mitochrondrial Disease: The Role of Supplements and Emergency Protocols
Presenter: Hilary Vernon, MD, PhD
Overcoming Social Challenges Associated with Leukodystrophy and Chronic Illness
Presenter: Kiley Morgart, LCSW-C
Advocating for Yourself/Advocating for Your Child
Presenter: Maureen van Stone, Esq., MS
Genetics 101: What Does It Mean to Have an LBSL-Specific Mutation?
Presenter: Rebecca McClellan
One Man's Perspective on LBSL
Presenter: Ed Blakely
Fundraising to Find a Cure
Presenter: Leslie Marsiglia
Nutrition and LBSL
Presenter: Elizabeth Enagonio, MS, RD, CSP, LDN
Function and Malfunction of Mirochondria and tRNA Synthetases Made Easy
Presenter: Aleksandra Trifunovic
Clinical Studies Update
Presenter: Amena Smith, MD, PhD
Research Update
Presenter: Christina Nemeth Mertz, PhD
