| 8:00am |
Welcome
- Jill Hawkins, Founder & President, FAM177A1 Research Fund
- Ethan Perlstien, CEO, Perlara PBC
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| 8:15am |
Genetics 101: Unravelling FAM177A1
- Charlie Steward, Ph.D., Head of Patient and Participation Engagement at Genomics England
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| 8:30am |
Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder; Q&A
- Dr. Nicole Legro, MD; Georgetown Medstar University Hospital
- Jennefer Kohler, MS LGCS; Stanford Center for Undiagnosed Diseases
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| 8:50am |
Family Story
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| 8:55am |
FAM177A1 Zebrafish; Q&A
- Lilianna Solnica-Krezel, Ph.D Head Department of Developmental Biology Co-Director, Center of Regenerative Medicine Washington University School of Medicine
- Jimann Shin, Ph.D., Solnica-Krezel Lab WUSTL
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| 9:15am |
The elusive role of FAM177A1 in the Golgi complex; Q&A
- Berrak Ugur, Ph.D; Associate Research Scientist; De Camilli Lab, Yale University
Not Available
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| 9:35am |
Family Story
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| 9:45am |
The FAM177A1-Associated Disease murine (mouse) model; Q&A
- Matt Simon, Ph.D; Study Director, Rare Disease Translational Center, The Jackson Laboratory
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| 10:00am |
Drug Repurposing and Biomarker Studies; Q&A
- Ethan Perlstein, Ph.D. CEO Perlara PBC
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| 10:15am |
Family Story
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| 10:20am |
Introduction to gene therapy and considerations for FAM177A1; Q&A
- Matt Fuller, Ph.D., Executive Director; Gene Therapy Research at Ultragenyx
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| 10:40am |
Natural History is Power: The Rare Patient’s Most Valuable Resource; Q&A
- Terry Jo Bichell, Ph.D., Founder/Director at COMBINEDBrain
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| 11:00am |
Closing remarks and discussion
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