08:00
09:00
10:00
11:00
12:00
13:00
14:00
15:00
16:00
17:00
8:30 - 9:00 (30min)
Arrival
Registration
9:00 - 9:15 (15min)
Welcome and introduction
Lainey Moseley and Manuela Mallamaci
9:15 - 12:25 (3h10)
CHOPS Syndrome - clinical aspects
Conference Rooms in Abramson 123ABC
9:15 - 9:40 (25min)
Genetics
Dr. Ian Krantz, Sarah Raible, MS, CGC
9:40 - 10:05 (25min)
Child Development
Dr. Mary Pipan
10:05 - 10:30 (25min)
Immunology and inhibitor treatment therapy
Dr. Alix Seif
10:30 - 10:45 (15min)
Coffee break
10:45 - 11:10 (25min)
The communicative-linguistic and oro-alimentary function development in subjects with CHOPS syndrome
Dr. Gemma Levantino
11:10 - 11:35 (25min)
Speech & Alternative Communication methods
Stephanie A. Zibowski, MS, CC-SLP
11:35 - 12:00 (25min)
Cardiology
Dr. Catherine Avitabile
12:00 - 12:25 (25min)
Pulmonology
Dr. Lisa Young
12:25 - 13:30 (1h05)
Lunch
13:30 - 17:00 (3h30)
Family consultations with experts
Conference Rooms in Abramson 123ABC
8:30 - 9:00 (30min)
Arrival
Registration
CHOPS Syndrome - Research and perspectives for a cure
What it means to be a family advocate for rare disease
Fondazione CHOPS Journey
The scientific committee of Fondazione CHOPS: our task and our goals
Roadmap to clinical trials for CHOPS
Coffee break
Toward the identification of therapeutic target(s) in CHOPS syndrome using genomic methodologies
Deciphering AFF4 expression dynamics: insights into neurodevelopmental disorders and targeted interventions
MeCP2 interacts with the super elongation complex to regulate transcription
Path to a cure in rare diseases and CHOPS
Patients First: Rapid Prototyping of Repurposed Drugs for CHOPS Syndrome
Super elongation complex and study of disruptors/inhibitors of the complex and their use for treatment of cancer and other diseases
Closing Remarks
What it means to be a family advocate for rare disease
Fondazione CHOPS Journey
The scientific committee of Fondazione CHOPS: our task and our goals
Roadmap to clinical trials for CHOPS
Coffee break
Toward the identification of therapeutic target(s) in CHOPS syndrome using genomic methodologies
Deciphering AFF4 expression dynamics: insights into neurodevelopmental disorders and targeted interventions
MeCP2 interacts with the super elongation complex to regulate transcription
Path to a cure in rare diseases and CHOPS
Patients First: Rapid Prototyping of Repurposed Drugs for CHOPS Syndrome
Super elongation complex and study of disruptors/inhibitors of the complex and their use for treatment of cancer and other diseases
Closing Remarks
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
