Planning
| 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 ) |
|
| 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 |
|
|
Loading...