Friday, July 19, 2024
Time | Event | (+) |
08:30 - 09:00 | Arrival - Registration | |
09:00 - 09:15 | Welcome and introduction - Lainey Moseley and Manuela Mallamaci | |
09:15 - 12:25 | CHOPS Syndrome - clinical aspects (Conference Rooms in Abramson 123ABC ) | |
09:15 - 09:40 | Genetics - Dr. Ian Krantz, Sarah Raible, MS, CGC | |
09:40 - 10:05 | Child Development - Dr. Mary Pipan | |
10:05 - 10:30 | Immunology and inhibitor treatment therapy - Dr. Alix Seif | |
10:30 - 10:45 | Coffee break | |
10:45 - 11:10 | The communicative-linguistic and oro-alimentary function development in subjects with CHOPS syndrome - Dr. Gemma Levantino | |
11:10 - 11:35 | Speech & Alternative Communication methods - Stephanie A. Zibowski, MS, CC-SLP | |
11:35 - 12:00 | Cardiology - Dr. Catherine Avitabile | |
12:00 - 12:25 | Pulmonology - Dr. Lisa Young | |
12:25 - 13:30 | Lunch | |
13:30 - 17:00 | Family consultations with experts (Conference Rooms in Abramson 123ABC ) |
Saturday, July 20, 2024
Time | Event | (+) |
08:30 - 09:00 | Arrival - Registration | |
09:00 - 12:30 | CHOPS Syndrome - Research and perspectives for a cure (Conference Rooms in Abramson 123ABC ) | |
09:00 - 09:15 | What it means to be a family advocate for rare disease - Lainey Moseley | |
09:15 - 09:30 | Fondazione CHOPS Journey - Manuela Mallamaci, PhD | |
09:30 - 09:45 | The scientific committee of Fondazione CHOPS: our task and our goals - Dr. Valentina Massa | |
09:45 - 10:00 | Roadmap to clinical trials for CHOPS - Dr Neil Hackett | |
10:00 - 10:15 | Coffee break | |
10:15 - 10:35 | Toward the identification of therapeutic target(s) in CHOPS syndrome using genomic methodologies - Dr. Kosuke Izumi | |
10:35 - 10:55 | Deciphering AFF4 expression dynamics: insights into neurodevelopmental disorders and targeted interventions - Dr. Ilaria Parenti | |
10:55 - 11:15 | MeCP2 interacts with the super elongation complex to regulate transcription - Dr. Jun Young Sonn | |
11:15 - 11:35 | Path to a cure in rare diseases and CHOPS - Ethan Perlstein, PhD | |
11:35 - 11:55 | Patients First: Rapid Prototyping of Repurposed Drugs for CHOPS Syndrome - Richard Novak, PhD | |
11:55 - 12:15 | Super elongation complex and study of disruptors/inhibitors of the complex and their use for treatment of cancer and other diseases - Dr. Shilatifard | |
12:15 - 12:30 | Closing Remarks - Lainey and Manuela | |
12:30 - 14:00 | Lunch | |
14:00 - 16:00 | RARE | A Documentary by Lainey Moseley |