Resources for the LBSL Patient and Scientific Conference.

2024

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

2022

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

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

2020

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 

2020 LBSL Conference Videos

2018

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