Delivery modes:
- In-person: This portion of the event is available to registered participants physically at the venue.
- Public Virtual: Talk is available virtually to registered public and WashU faculty, staff and students.*
- WashU Virtual: Talk is available virtually to only registered WashU faculty, staff and students.*
- * Link and password sent via email prior to event.
| Time | Title | Delivery mode(s) | Location |
|---|---|---|---|
| 8:00 – 8:15 a.m. | Continental breakfast | – | Lobby |
| 8:15 – 8:30 a.m. | Welcome | In-person/ Public Virtual | Auditorium |
| 8:30 – 9:00 a.m. | A family’s journey with Fragile X Sara Hamilton Clinic Manager, Fragile X parent and advocate | In-person/ Public Virtual | Auditorium |
| 9:00 – 9:30 a.m. | FDA accelerated approval pathway for treatments Peter Marks, MD, PhD Director, Center for Biologics Evaluation and Research | In-person/ Public Virtual | Auditorium |
| 9:30 – 10:00 a.m. | Replacement protein therapy – even before birth Holm Schneider, MD Head, Center for Ectodermal Dysplasias | In-person/ Public Virtual | Auditorium |
| 10:00 – 10:30 a.m. | The Heart of the Journey: SCN8A Diagnosis from A Mother’s Perspective Kacie Craig, MEd Executive Director, The Cute Syndrome Foundation | In-person/ Public Virtual | Auditorium |
| 10:30 – 11:00 a.m | Speaker Q&A panel | In-person/ Public Virtual | Auditorium |
| 11:00 – 11:30 a.m. | Break – Rare patient/parent meet & greet | – | Lobby – 3rd floor |
| 11:30 – 12:00 p.m. | Poster presentations – Grab-n-go box lunches served | In-person | Great Room – Lobby |
| 12:00 – 12:15 p.m. | Application and Measurement of Constraint-Induced Movement Therapy (CIMT) for Infants and Toddlers with Cerebral Palsy Maria Lopez Coxon, OTD, OTR/L, CLC | In-person/ WashU Virtual | Auditorium |
| 12:15 – 12:30 p.m. | Gene therapy treats the neuromuscular consequences of Cln3 deficiency in mice Ewa Ziolkowska, PhD | In-person/ WashU Virtual | Auditorium |
| 12:30 – 12:45 p.m. | A Novel Autosomal Dominant Childhood-Onset Disorder Associated with Pathogenic Variants in VCP Marwan Shinawi, MD | In-person/ WashU Virtual | Auditorium |
| 12:45 – 1:00 p.m. | Muscle defects in KATP channel gain-of-function and loss-of-function mutation-driven rare diseases Rosa Scala, PhD | In-person/ WashU Virtual | Auditorium |
| 1:00 – 1:15 p.m. | The role of WAC as a regulator of neuronal activity-dependent transcription Alyssa Erickson, BS | In-person/ WashU Virtual | Auditorium |
| 1:15 – 1:30 p.m. | Quality-of-Life and Healthcare Accessibility in Native American Myopathy: Study Design, Demographics, Diagnosis, and Chronic Health Conditions of Enrolled Subjects Magnolia Wang, BA | In-person/ WashU Virtual | Auditorium |
| 1:30 – 1:45 p.m. | Goals of the National Organization Center of Excellence designation program and WashU/BJC’s Rare Disease initiatives Michelle Oliva, MSN | In-person/ WashU Virtual | Auditorium |
| 1:45 – 2:00 p.m. | Cerebral oxygen extraction predicts brain lesion progression in Retinal Vasculopathy with Cerebral Leukocencephalopathy, a monogenic microvasculopathy Andria Ford, MD | In-person/ WashU Virtual | Auditorium |
| 2:00 – 2:30 p.m. | Break | – | Lobby |
| 2:30 – 2:45 p.m. | Triple therapy in Pyridoxine-Dependent Epilepsy: A Single Center Experience in Treatment of 7 Patients and Evaluation of Their Outcomes Angela Lee, MD | In-person/ WashU Virtual | Auditorium |
| 2:45 – 3:00 p.m. | Novel Presentation of a Mosaic STAT5B Gain-of-Function Variant Erica Schmitt, MD, PhD | In-person/ WashU Virtual | Auditorium |
| 3:00 – 3:15 p.m. | Enhancer hijacking of the IgH locus as a novel mechanism of inborn errors of immunity Joshua Tobin, MD | In-person/ WashU Virtual | Auditorium |
| 3:15 – 3:30 p.m. | Elucidating expression of a corrective enzyme for MPS I through administration of an adenoviral vector targeted to endothelial cells Sarah Hurt, BS | In-person/ WashU Virtual | Auditorium |
| 3:30 – 3:45 p.m. | Dual promoter AAV gene therapy for lysosomal β-glucocerebrosidase with high M6P content for treatment of neuronopathic Gaucher disease Andrew Hedman, PhD | In-person/ WashU Virtual | Auditorium |
| 3:45 – 4:00 p.m. | Overgrowth Syndromes Alliance: A New Collaboration to Gain Novel Insights into OGIDs Kerry Grens, MS | In-person/ WashU Virtual | Auditorium |
| 4:00 – 5:00 p.m. | Reception + poster presentations | In-person | Great Room |