Registration includes in-person and virtual attendance options. Link and password will be sent before the event via email for virtual attendees.
| Time | Title | Delivery mode(s) | Location |
|---|---|---|---|
| 7:45 – 8:15 a.m. | Rare patient and family breakfast | In-person | 3rd floor, Rm 301 |
| 8:00 – 8:15 a.m. | Continental breakfast | In-person | Lobby |
| 8:15 – 8:30 a.m. | Welcome | In-person/ Virtual | Auditorium |
| 8:30 – 9:00 a.m. | Living with Rare Disease: Finding Hope Through Community Nathan Grant, MPhil (Nik’s brother) Founder, Siblings with a Mission President, Siblings with a Mission | In-person/ Virtual | Auditorium |
| 9:00 – 9:30 a.m. | Navigating therapeutic development in the changing CF landscape JP Clancy, MD Senior Vice President, Clinical Research for the Cystic Fibrosis Foundation (CFF) | In-person/ Virtual | Auditorium |
| 9:30 – 10:00 a.m. | Tolerating the Unknown – Finding More Comfort and Peace Despite a Rare, Undiagnosed Disease Genny Jessee (June’s mom) Executive Director, June Jessee Memorial Foundation Co-founder, June Jessee Memorial Foundation | In-person/ Virtual | Auditorium |
| 10:00 – 11:00 a.m. | At The Forefront of Genomics: Making Genomic Medicine a Reality Eric Green, MD, PhD Director, National Human Genome Research Institute (NHGRI) | In-person/ Virtual | Auditorium |
| 11:00 – 12:00 p.m | Break and Poster session (odd) – Rare patient and family meet and greet | In-person | Great Room – 3rd floor, Rm 301 |
| 12:00 – 12:30 p.m. | Grab-n-go box lunches served – Abstract presentations (12 min each + 3 min Q&A) | In-person | Lobby – Auditorium |
| 12:00 – 12:15 p.m. | Center for Rare, Undiagnosed and Genetic Disorders Patricia Dickson, MD | In-person/ Virtual | Auditorium |
| 12:15 – 12:30 p.m. | Mechanistic basis of the Hao-Fountain syndrome Hao Chen | In-person/ Virtual | Auditorium |
| 12:30 – 12:45 p.m. | Understanding and treating dysphagia in mouse models of Batten disease via gene therapy Ewa Ziolkowska, PhD | In-person/ Virtual | Auditorium |
| 12:45 – 1:00 p.m. | Clinical characterization and patient-reported outcomes among parents identified as heterozygous for a GLA variant following an abnormal newborn screening in their child. Margaret Erpelding | In-person/ Virtual | Auditorium |
| 1:00 – 1:15 p.m. | Recombinant human alpha-N-acetylglucosamine-6-sulfatase delivered to Sanfilippo D mice with repeated intracerebroventricular injections corrects CNS pathology Grant Austin, MD | In-person/ Virtual | Auditorium |
| 1:15 – 1:30 p.m. | Seeding competent TDP-43 persists in human patient and mouse muscle Eileen Lynch, PhD | In-person/ Virtual | Auditorium |
| 1:30 – 1:45 p.m. | The Marfan Syndrome and Aortopathy Center at WashU/BJH: Patient Care, Education, Research, and Advocacy Alan Braverman, MD | In-person/ Virtual | Auditorium |
| 1:45 – 2:00 p.m. | Tatton-Brown-Rahman-Syndrome associated mutations in DNMT3A de-represses cortical interneuron maturation Gareth Chapman, PhD | In-person/ Virtual | Auditorium |
| 2:00 – 3:00 p.m. | Break and Poster session (even) | In-person | Lobby |
| 3:00 – 3:15 p.m. | Sequence Variants in HECTD1 Result in a Variable Neurodevelopmental Disorder Hieu Hoang, PhD | In-person/ Virtual | Auditorium |
| 3:15 – 3:30 p.m. | Knockout of ATP8A2 causes lethal neuroinflammation in a model of CAMRQ4 James O’Connor, PhD | In-person/ Virtual | Auditorium |
| 3:30 – 3:45 p.m. | Advancing Diagnostic Outcomes in Rare Diseases: The Evolving Role of Exome Sequencing and Gene Reclassification Alexa Dickson, PhD | In-person/ Virtual | Auditorium |
| 3:45 – 4:00 p.m. | Whole-genome sequencing as a first assay has the potential to shorten diagnosis time for neurodevelopmental disorders Akash Kumar, MD, PhD | In-person/ Virtual | Auditorium |
| 4:00 – 4:15 p.m. | Research analysis of clinical exome sequence data to detect diabetes-related genetic variation Matheus Wilke, MD, PhD | In-person/ Virtual | Auditorium |
| 4:15 – 4:30 p.m. | Effect of High Fat Diet on Glucose Tolerance and Liver Dysfunction in a Model of Insulin Mediated Pseudoacromegaly Stephen Stone, MD | In-person/ Virtual | Auditorium |
| 4:30 – 4:45 p.m. | Siblings with Hypomyelinating Leukodystrophy, Microcephaly, and Polymicrogyria due to Biallelic Pathogenic Variants in POLR3A identified through the WUSTL Undiagnosed Diseases Network (UDN) Clinical Site Marina Metzler, DO | In-person/ Virtual | Auditorium |
| 4:45 – 5:00 p.m. | Insights into Nasu-Hakola disease through iPSC-microglia models Fabia Filipello, PhD | In-person/ Virtual | Auditorium |