MSD Virtual Summit Schedule
9:00 am
Opening Remarks
Sarah Cortell Vandersypen, CFRE
9:15 am
Disease Categorization: Natural History Study Updates
Dr. Laura Adang, MD, PhD
9:27 am
Disease Categorization: Comprehensive Analysis of Brain MRI in MSD
Dr. Lars Schlotawa, MD, PhD
9:39 am
Disease Categorization: Comprehensive Biomarker Profiling in MSD, followed by
Disease Categorization Q&A Session
Dr. Xinying Hong, PhD
10:00 am
Expanding the Spectrum: Hypomorphic SUMF1 Genotypes associated with attenuated MSD
Dr. Siying Lin, PhD
10:15 am
PAG Perspective of the expanding spectrum, followed by
Expanding the Spectrum Q&A Session
Brenna Bentley, MS, CGC
10:25 am
Advancing Small-Molecule Stabilizers of FGE: An Update
Dr. Matthew Baud, PhD
10:35 am
Crystallographic fragment screening identifies small molecules that bind to FGE
Dr. Hartmut Niemann, PhD
10:45 am
Strategies for the Synthesis & Testing of Small-Molecule Stabilisers of FGE
Dr. Hugh Britton, PhD
10:55 am
Microglia-based gene therapy for MSD, followed by
Pre-Clinical Session Q&A + BREAK
Dr. Rebecca Ahrens-Nicklas, MD, PhD
11:15 am
Drug Repurposing: Clinical Testing of Tazarotene & Identification of Backup Compound Candidates for MSD Treatment
Dr. Lars Schlotawa, MD, PhD
11:25 am
CHAMPION Project, followed by
Q&A Session
Dr. Lars Schlotawa, MD, PhD
11:45 am
AAV9 Gene Therapy Clinical Trial: Design of a patient-centric clinical trial for rare diseases, followed by
Q&A Session
Dr. Laura Adang & Dr. Rebecca Ahrens-Nicklas
12:15 pm
Newborn Screening Panel with special guests TBA
Amy Gaviglio, MS, CGC
12:45 pm
NBS: Patient Identification, consensus guidelines
Dr. Laura Adang, MD, PhD
12:55 pm
Closing Keynote
Dr. Peter Marks, MD, PhD
1:55 pm
Closing Remarks
Sarah Cortell Vandersypen, CFRE
9:00 am
Opening Remarks, Logistics & Schedule
Sarah Cortell Vandersypen, CFRE
9:15 am
Science Day Recap
Dr. Lars Schlotawa, Dr. Laura Adang, Dr. Rebecca Ahrens-Nicklas
10:15 am
Q&A Session
10:30 am
Clinical Trials: The True Struggles of Participants
Dr. Amy Waldman
11:10 am
Break
11:25 am
Burnout is NOT inevitable
Brad Thompson, MS, LPC-S
12:05 pm
Ichthyosis & MSD
12:45 pm
Beyond Calories: The Secret Life of Nutrients
Anne Kozek, MS, RD, LDN
1:25 pm
Remembrance Activity & Grounding Exercise
Brenna Bentley, MS, CGC
1:50 pm
Closing Remarks
Sarah Cortell Vandersypen, CFRE
Sponsorship questions
General
Questions
Media / Press Opportunities
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