Dyskeratosis congenita autosomal dominant
- Autosomal dominant dyskeratosis congenita
- Dyskeratosis congenita Scoggins type
News & Events
On this page
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.
2015 Epithelial Differentiation and Keratinization Gordon Research Conference & Gordon Research Seminar, Saturday, July 11, 2015 - Friday, July 17, 2015
Location: Sunday River Resort, Bethel, Maine
Description: Specific Aim: Provide an outstanding scientific program reflecting the latest conceptual advances: Invited speakers include leading investigators in epithelial biology and early career scientists with innovative and exciting stories. The program covers areas of persistent interest such as stem cells, regeneration and aging, epithelial adhesion and polarity, epithelial cancers and rare diseases, and explores new topics including the epithelial-environmental interactions, novel regulatory mechanisms involving long noncoding RNAs and chromatin modifiers, exciting advances in live imaging, and genomics approaches to understanding development, carcinogenesis and evolution.
2013 Epithelial Differentiation and Keratinization GRC/GRS, Saturday, May 11, 2013 - Sunday, May 12, 2013
Location: Renaissance Tuscany Il Ciocco Resort, Lucca (Barga), Italy
Description: Novel findings in rare disease gene identification, together with studies on disease mechanisms in human patients and in mouse models, will suggest novel therapeutic approaches and form the basis for new prenatal tests. Investigators including Drs. Tolar and Oro will report on the results of bone marrow stem cell therapies and small molecule therapeutics in human patients with rare skin diseases; successful outcomes of these clinical trials will spur expansion of the use of these approaches in patients. Gene correction in patient derived iPS is an exciting potential therapeutic approach to both recessive and dominant genetic skin diseases. Drs. Roop and Christiano will provide updates on derivation and characterization of iPS from patients, and will discuss approaches to gene correction and differentiation of iPS into skin cell lineages for potential use in grafting procedures