The CHOPS syndrome symposium will be held on July 19-20, 2024 at the Children's Hospital of Philadelphia. Clinicians,  researchers, CHOPS patient advocates and families will gather to share their research, knowledge, and experiences.

The CHOPS Syndrome is an ultra-rare and multi-organ neurodevelopmental genetic disease. It involves several abnormalities that are present from birth. The name CHOPS is the acronym of Cognitive impairment and Coarse facies, Heart defects, Obesity, Pulmonary involvement, Short stature and Skeletal dysplasia, or the list of the main characteristics of the syndrome.

It is caused by mutations in the AFF4 gene, which provides instructions for building a protein complex known as a super elongation complex (SEC). During embryogenesis, the ECS is involved in a process called transcription, the first step in the production of proteins from genes. Mutations in the AFF4 gene are thought to cause accumulation of the AFF4 protein. The excess of the latter interferes with transcription, with consequent problems in the development of various organs and tissues, which give rise to the typical symptoms of CHOPS. The same mechanisms are involved in the cohesins, whose mutations are responsible for other syndromic conditions known as “cohesynopathies”, of which Cornelia de Lange syndrome is a part.

This syndrome was discovered in 2015 by Dr. Krantz and Dr. Izumi and it counts only 34 cases documented around the world.

This symposium will be an opportunity to explore and debate on the new horizons for CHOPS syndrome, to accelerate research and therapy development.

 This event is supported by

• Dr. Ian D. Krantz, MD
• Sarah Raible, MS, CGC

• Dr. Ian D. Krantz, MD
• Lainey Moseley
• Sarah Raible, MS, CGC
• Manuela Mallamaci, PhD 

PLEASE REGISTER TO JOIN THE SYMPOSIUM.
See instructions on the left column menu.

IF YOU ARE A SPEAKER, PLEASE UPLOAD YOUR PRESENTATION HERE