- CFC syndrome
- Congenital heart defects characteristic facial appearance ectodermal abnormalities and growth failure
- Cardio-facio-cutaneous syndrome
News & Events
ORDR Co-Sponsored Conferences
2016 Rare Disease Day at NIH, Monday, February 29, 2016
Location: Building 10, Masur Auditorium, National Institutes of Health, Bethesda, MD
Description: The 2016 Rare Disease Day at NIH will take place on February 29. The event, sponsored by NCATS and the NIH Clinical Center, aims to raise awareness about rare diseases, the patients they affect and the research collaborations that are addressing rare disease challenges. The day will feature tours, posters and exhibits, and presentations.
Third International Meeting on Genetic Syndromes of the Ras/MAPK Pathway , Friday, August 02, 2013 - Sunday, August 04, 2013
Location: Renaissance Orlando at SeaWorld, Orlando, FL
International Meeting on Genetic Syndromes of the Ras/MAPK Pathway, Friday, July 29, 2011 - Sunday, July 31, 2011
Location: The Westin O’Hare, Chicago, IL
Description: The ultimate goals of this meeting are to develop better medical management and establish novel therapies. The overall goal is to provide a forum for researchers, clinicians, physician-scientists, trainees, and affected persons/families to share and discuss basic science and clinical issues in order to set forth a solid framework for future research, translational applications directed toward therapy, and best practices for individuals with Ras/MAPK pathway syndromes.
Genetic Syndromes of the Ras/MAPK Pathway: From Bedside to Bench and Back, Saturday, August 01, 2009 - Sunday, August 02, 2009
Location: DoubleTree Hotel and Executive Meeting Center at the Berkeley Marina, Berkeley, CA
Description: The overall goal of this symposium was to provide an open forum for researchers, clinicians and physician–scientists, trainees, and families to share and discuss basic science and clinical issues to set forth a solid framework for future research, translational applications directed toward therapy, and best practices for individuals with these syndromes. Formalization of basic science and clinical research through this symposium would also provide insight into the cause and progression of cancer as well as the understanding of how this critical signal transduction pathway is involved in the regulation of normal human development.
Fifth International Conference on Pediatric Mechanical Circulatory Support Systems and Pediatric Cardiopulmonary Perfusion , Thursday, May 28, 2009 - Saturday, May 30, 2009
Location: Hilton Anatole, Dallas, TX
Description: The main objective of this conference was to focus on the current problems associated with pediatric cardiac patients during and after acute or chronic cardiac support. At this conference, we brought together many distinguished physicians and scientists to define precisely the current problems and to suggest solutions with novel approaches.
- Neurofibromatoses and RASopathies: Their Management, Diagnosis, Current and Future Therapeutic Avenues
Monday, September 30, 2013 - Tuesday, October 01, 2013
Location: Radisson Blu Hotel, Cardiff, Wales
Description: This international meeting will provide a most comprehensive and up to date account of recent developments in this field. Internationally recognized experts from the UK, Europe and the USA will speak on neurofibromatoses and rasopathies. This meeting will be suitable for medical geneticists, oncologists, dermatologists, neurologists, endocrinologists, psychiatrists, molecular and cellular biologists, genetic counsellors and general practitioners.