- Faciocutaneoskeletal syndrome
- FCS syndrome
- Intellectual disability - nasal papillomata
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.
4th International RASopathies Symposium, Friday, July 17, 2015 - Sunday, July 19, 2015
Location: Doubletree by Hilton at SeaTac, Seattle, WA
Description: This symposium will provide a venue for a scientific conversation between clinicians, researchers, trainees and affected families to share and discuss clinical issues and basic science and set forth a framework for future research, translational applications directed towards therapy, and best clinical practices for RAS/MAPK pathway syndromes.
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.
David W. Smith Workshop on Malformations and Morphogenesis, Friday, August 27, 2010 - Wednesday, September 01, 2010
Location: Alderbrook Resort, Union, Washington
Description: The goal of the Smith Workshop was to bring together a diverse group of clinicians and scientists to advance general understanding of human dysmorphogenesis as well as normal morphogenesis. To meet this goal, the descriptions of new syndromes, more detailed phenotypic characterization of already established syndromes, studies of the natural history of human malformations, development of an understanding of the molecular and genetic mechanisms of normal and abnormal morphogenesis, and understanding the role that embryogenesis and organogenesis play in the development of human malformations were the central topics of this meeting. The organizers placed emphasis on the interplay between the environment and genes as the causes of human birth defects.
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.
- 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.