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ORDR Co-Sponsored Conferences
AKT/PI3KCA Pathway-associated Mosaic Disorders, Wednesday, September 11, 2013 - Wednesday, September 11, 2013
Location: Building 45, NIH Campus, Bethesda, MD
Description: The goals of this workshop are to: (1.) Aggregate clinical and molecular data on patients from the groups to draw conclusions on the range of phenotypes and clinical delineation of the disorders. (2.) Develop consensus on clinical diagnostic categories, proper names for the entities, and molecular correlations. (3.) Propose an agenda for moving forward with considerations for both symptomatic and primary treatment.
Xeroderma Pigmentosum and other Diseases of Human Premature Aging and DNA Repair: Molecules to Patients, Tuesday, September 05, 2006
Location: National Conference Center, Lansdowne, VA
Description: This meeting was a follow-up of one held in 2004. The purpose of this workshop was to gather leading scientists and clinicians in this very active area of research. The clinical and mechanistic aspects of Cowden's syndrome (CS) and related DNA repair/transcription defective disorders such as xeroderma pigmentosum (XP) and trichothiodystrophy (TTD) were explored. Our goals were to develop new multidisciplinary collaborations, interactions, and relationships that can lead to a greater understanding of the pathophysiological mechanisms involved in these disorders and to conceive new therapeutic strategies for their treatment.
Workshop on Phacomatoses Revisited (Neurofibromatosis 1 and 2, Tuberous Sclerosis 1 and 2 [TSC1, 2], von Hippel-Lindau syndrome [VHL], Gorlin syndrome [PTCh], Cowden's disease [PTEN], Familial Adenomatous Polyposis [APC]), Wednesday, March 03, 1999