Nijmegen breakage syndrome
- Berlin Breakage syndrome
- Ataxia-Telangiectasia variant V1
- Microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies
- Nonsyndromal microcephaly autosomal recessive with normal intelligence
- Seemanova syndrome 2
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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.
15th International Workshop on Ataxia-Telangiectasia and ATM, Tuesday, February 07, 2012 - Saturday, February 11, 2012
Location: India at the Habitat Center, Delhi, India
Description: This meeting will bring together established and emerging basic and clinical scientists from various countries to participate in highly interactive scientific discourses through the presentation of their findings and dissemination of knowledge on A-T and related disorders. The outcome of the meeting could result in collaborations and new approaches that have potential for advancing therapies for A-T and related diseases.
American Society for Microbiology (ASM) Conference on DNA Repair and Mutagenesis, Saturday, May 30, 2009 - Friday, June 05, 2009
Location: Fairmont Chateau Whistler, British Columbia, Canada
Description: The major goals of this conference were to disseminate novel, unpublished results; identify new technologies and clinical therapies; and foster new collaborations among participants. A hallmark of this conference is the exceptionally broad cross-section of participants in terms of research focus (basic, translational, and clinical), age (the large meeting venue draws many younger scientists, graduate students, and senior investigators; ASM committed $20,000 to subsidize graduate student travel), institutional affiliation (academia, government, private industry, and publishing), and geography. Numerous opportunities were provided for in-depth discussion during and after sessions and at meals, including the popular evening poster sessions to promote informal interactions among all participants.