08:00
09:00
10:00
11:00
12:00
13:00
14:00
15:00
16:00
›8:30 (30min)
8:30 - 9:00 (30min)
Arrival
Registration
›9:00 (3h30)
› Conference Rooms in Abramson 123ABC
9:00 - 12:30 (3h30)
CHOPS Syndrome - Research and perspectives for a cure
Conference Rooms in Abramson 123ABC
›9:00 (15min)
9:00 - 9:15 (15min)
What it means to be a family advocate for rare disease
Lainey Moseley
›9:15 (15min)
9:15 - 9:30 (15min)
Fondazione CHOPS Journey
Manuela Mallamaci, PhD
›9:30 (15min)
9:30 - 9:45 (15min)
The scientific committee of Fondazione CHOPS: our task and our goals
Dr. Valentina Massa
›9:45 (15min)
9:45 - 10:00 (15min)
Roadmap to clinical trials for CHOPS
Dr Neil Hackett
›10:00 (15min)
10:00 - 10:15 (15min)
Coffee break
›10:15 (20min)
10:15 - 10:35 (20min)
Toward the identification of therapeutic target(s) in CHOPS syndrome using genomic methodologies
Dr. Kosuke Izumi
›10:35 (20min)
10:35 - 10:55 (20min)
Deciphering AFF4 expression dynamics: insights into neurodevelopmental disorders and targeted interventions
Dr. Ilaria Parenti
›10:55 (20min)
10:55 - 11:15 (20min)
MeCP2 interacts with the super elongation complex to regulate transcription
Dr. Jun Young Sonn
›11:15 (20min)
11:15 - 11:35 (20min)
Path to a cure in rare diseases and CHOPS
Ethan Perlstein, PhD
›11:35 (20min)
11:35 - 11:55 (20min)
Patients First: Rapid Prototyping of Repurposed Drugs for CHOPS Syndrome
Richard Novak, PhD
11:55 - 12:15 (20min)
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 (15min)
12:15 - 12:30 (15min)
Closing Remarks
Lainey and Manuela
›12:30 (1h30)
12:30 - 14:00 (1h30)
Lunch
›14:00 (2h)
14:00 - 16:00 (2h)
RARE | A Documentary by Lainey Moseley
