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Diseases

Genetic and Rare Diseases Information Center (GARD)

Osteopetrosis and infantile neuroaxonal dystrophy


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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.

  • Mechanistic and Therapeutic Insights into Skeletal Biology Learned from the Study of Rare Bone Diseases, Thursday, September 11, 2014
    Location: Hilton Americas, Houston, TX
    Description: <p>This workshop, coordinated by the National Bone Health Alliance (NBHA) in partnership with the Rare Bone Disease Patient Network and with the support of the American Society for Bone and Mineral Research (ASBMR) and the United States Bone and Joint Initiative (USBJI) aims to: 1)Convene a multi-disciplinary group of experts including researchers, clinicians, and patients with rare bone diseases to advance our understanding of skeletal biology and encourage the development of novel therapies to improve outcomes for individuals with both common and rare bone diseases;<span>&nbsp; </span>2)Identify gaps in our knowledge regarding the biologic mechanisms underlying rare bone disorders and share effective research strategies in translational and therapeutic areas;<span>&nbsp; </span>3)Encourage broad participation both by holding the event the day before the ASBMR 2014 Annual Meeting and providing funding for a significant number of young investigators to attend; and 4)Disseminate the results broadly by publishing the proceedings of the program in a peer-reviewed journal.</p>

  • Third Genome Dynamics in the Neurosciences Conference, Sunday, July 18, 2010 - Thursday, July 22, 2010
    Location: The Hilton Metropole, Brighton, England
    Description: The goal of this meeting was to integrate basic processes of DNA damage signaling and repair and clinical aspects of neurological and neurodegenerative disease. The program was designed to bring together leading scientists with primary interests in DNA damage signaling with those working in specific related neurodegenerative disease areas as a means for integrating these fields. It was anticipated that this would generate insights into how normal processes of genome maintenance in the brain contribute to the prevention of a wide range of diseases.

  • Nutritional Challenges in the High-Risk Infant, Monday, September 14, 2009 - Tuesday, September 15, 2009
    Location: DC Metro Area,
    Description: Evidence was critically evaluated at this workshop. Current gaps in knowledge in this area were identified and research priorities were formulated. The workshop summary will provide NICHD and the scientific community a template to address the scientific and clinical issues related to nutrition and neonatal care.

See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.