All activities take place at the Arnold J. Capute, MD, MPH, Conference Center, on the eighth floor of 1741 Ashland Avenue, Baltimore, unless noted otherwise.
All times are listed in Eastern Daylight Time.
Tentative Agenda
Friday, July 26
All Day
LBSL Research Lab Tours
Clinic and Research Visits (by appointment only)
Afternoon Hotel Check-In
5 - 7 p.m. Welcome Reception
Location: Residence Inn by Marriott Baltimore at the Johns Hopkins Medical Campus, 800 North Wolfe Street, Baltimore
Saturday, July 27
Full breakfast is available at the hotel for overnight guests starting at 6:30 a.m.
8:30–9 a.m. Child Care Drop-Off and Continental Breakfast
9–9:15 a.m. Welcome
Brad Schlaggar, MD, PhD
President and CEO, Kennedy Krieger Institute
Beth McGinn
Executive Director and Co-Founder, Cure LBSL
Mike McGinn
Co-Founder, Cure LBSL
9:15–9:35 a.m. Introduction to LBSL and Goals for the Conference
Ali Fatemi, MD, MBA
Chief Medical Officer and Director of the Moser Center for Leukodystrophies, Kennedy Krieger Institute
9:35–9:50 a.m. Self-Care: Yoga for Mitochondrial and Neurological Disorders
Cristy Balcells, RN
Yoga Lemonade
Eduardo Balcells, MD
Yoga Lemonade
Julie Wallace
Yoga Lemonade
9:50–10:50 a.m. Natural History Study Updates
Amena Smith Fine, MD, PhD
Assistant Professor of Neurology and Developmental Medicine, Kennedy Krieger Institute
10:50–11 a.m. Break
11 a.m.–12 p.m. Infection and Fever
Peter McGuire, MS, MBBCh
National Institutes of Health MINI Study
Eliza Gordon-Lipkin, PhD
National Institutes of Health MINI Study
Shannon Kruk, RN
National Institutes of Health MINI Study
12–1 p.m. Lunch and Learn
1–1:50 p.m. Gene Therapies and Trial Readiness
Michelle Campbell, PhD
Associate Director of Stakeholder Engagement and Clinical Outcomes, U.S. Food and Drug Administration Office of Neuroscience
Zollie Yavarow, PhD
Postdoctoral Fellow, COMBINEDBrain
Ali Fatemi, MD, MBA
1:50–2 p.m. Break
2–2:50 p.m. Caring for Medically Complex Individuals
Maura Ruzhnikov, MD
Moser Center for Leukodystrophies,
Kennedy Krieger Institute
Nancy Yeh, MD
Medical Director of the Pediatric Comprehensive Neurorehabilitation Unit, Kennedy Krieger Institute
Melanie Brown, MD
Medical Director of Pediatric Palliative Care,
Johns Hopkins University School of Medicine
Sydney Faw, LMSW
FMR1 and Related Conditions Clinic,
Kennedy Krieger Institute
Mikaila Jones
Parent of a child with LBSL
2:50–3 p.m. Break
3–3:50 p.m. Sleep, Energy and Rest
Jennifer Accardo, MD, MSCE
Assistant Professor for the Department of Pediatrics, Children’s Hospital of Richmond at VCU
Alexander Sercel, PhD
Director of Scientific Affairs, Mitochondrial Disease and Biology, MitoWorld
Ed Blakey, Esq.
Cure LBSL
3:50–4 p.m. Break
3:50 p.m. Research and Scientific Social Reception (off-site)
4–4:50 p.m. Physical Therapy and Rehabilitation
Jennifer Keller, MS, PT
Kennedy Krieger Institute
Ed Blakey, Esq.
Cure LBSL
4:50–5:15 p.m. Capturing the Patient Voice and Closing Remarks
Melody Kisor
Beth McGinn
Mike McGinn
Sunday, July 28
Full breakfast is available at the hotel for overnight guests starting at 6:30 a.m.
8:30–9 a.m. Child Care Drop-Off and Continental Breakfast
9:15–10:30 a.m. Moser Center for Leukodystrophies Research Update:
Gene Therapies for LBSL
Christina Nemeth Mertz, PhD
Assistant Professor of Neurology at the Moser Center for Leukodystrophies, Kennedy Krieger Institute
Ines Garofolo, BS
Research Technician at the Moser Center for Leukodystrophies, Kennedy Krieger Institute
Bayley Lindsay, BS
Research Technician at the Moser Center for Leukodystrophies, Kennedy Krieger Institute
10:30–10:45 a.m. Break
10:45–11:45 a.m. Biomarkers Panel
Georg Oeltzschner, PhD
Assistant Professor of Radiology and Radiological Science, Johns Hopkins University School of Medicine
Johan Van Hove, MD PhD
Professor of Pediatrics, Clinical Genetics and Metabolism,
University of Colorado School of Medicine
11:45 a.m.–12 p.m. Question-and-Answer Session
12–1 p.m. Lunch and Poster Session
1–1:30 p.m. RNA-Targeting Therapies for Monogenic Disorders
Kathryn Morelli, PhD
Assistant Professor for the Department of Neurological Sciences at the Larner College of Medicine,
University of Vermont
1:30–2:15 p.m. Alternative Functions of tRNA Synthetases—and Their Consequences
Haissi Cui, PhD
Assistant Professor for the Department of Chemistry, University of Toronto
2:15–2:30 p.m. Question-and-Answer Session and Break
2:30–3 p.m. Novel Mouse Models of LBSL
Marc Engelen, MD, PhD
Neurologist and Clinical Researcher, Amsterdam University Medical Centers
3–3:30 p.m. Nontraditional DARS2 Model Systems
Marni Falk, MD
Executive Director of the Mitochondrial Medicine Frontier Program, Children’s Hospital of Philadelphia
Cristina Remes, PhD, MSc
Postdoctoral Research Fellow for the Mitochondrial Medicine Program, Children's Hospital of Philadelphia
3:30–3:45 p.m. Question-and-Answer Session and Break
3:45–4:15 p.m. Is LBSL More Prevalent Than We Think?
Carmen Glaze, BS
Variant Curator, Broad Institute
Kathryn Russell, BS
Variant Curator, Broad Institute
4:15–4:45 p.m. NCATS: New Tools to Study Disease
Tyler Beck, PhD
Program Director for the Office of Drug Development Partnership Program, National Center for Advancing Translational Sciences (NCATS)
David Fajgenbaum, MD, MBA, MSc*
Co-Founder and President, Every Cure
Morgan Voigt, LBSL parent*
*Video Recording
4:45–5:15 p.m. Review, Acknowledgements and Closing Remarks
Beth McGinn
Mike McGinn
Ali Fatemi, MD, MBA
Monday, July 29
Clinic and Research Visits (by appointment only)
Patient Voice Activities
Patient and Family Resource Fair
LBSL Research Lab Tours