CHOPS Syndrome Symposium - Sciencesconf.org

8:30 - 9:00 (30min)

Arrival

Registration

9:00 - 12:30 (3h30)

CHOPS Syndrome - Research and perspectives for a cure

Conference Rooms in Abramson 123ABC

9:00 - 9:15 (15min)

What it means to be a family advocate for rare disease

Lainey Moseley

9:15 - 9:30 (15min)

Fondazione CHOPS Journey

Manuela Mallamaci, PhD

9:30 - 9:45 (15min)

The scientific committee of Fondazione CHOPS: our task and our goals

Dr. Valentina Massa

9:45 - 10:00 (15min)

Roadmap to clinical trials for CHOPS

Dr Neil Hackett

10:00 - 10:15 (15min)

Coffee break

10:15 - 10:35 (20min)

Toward the identification of therapeutic target(s) in CHOPS syndrome using genomic methodologies

Dr. Kosuke Izumi

10:35 - 10:55 (20min)

Deciphering AFF4 expression dynamics: insights into neurodevelopmental disorders and targeted interventions

Dr. Ilaria Parenti

10:55 - 11:15 (20min)

MeCP2 interacts with the super elongation complex to regulate transcription

Dr. Jun Young Sonn

11:15 - 11:35 (20min)

Path to a cure in rare diseases and CHOPS

Ethan Perlstein, PhD

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 - 12:30 (15min)

Closing Remarks

Lainey and Manuela

12:30 - 14:00 (1h30)

Lunch

14:00 - 16:00 (2h)

RARE | A Documentary by Lainey Moseley

Planning