Agenda

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

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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

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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

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Monday, July 29

Clinic and Research Visits (by appointment only)

Patient Voice Activities

Patient and Family Resource Fair

LBSL Research Lab Tours