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Diseases

Genetic and Rare Diseases Information Center (GARD)

Fucosidosis type 1


Other Names for this Disease
  • Infantile fucosidosis
  • Macrocephaly, brachycephaly, depressed nasal bridge, hypertelorism, thick eyebrows/scalp hair, short stature/neck, seizures, progressive dementia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

News & Events


NCATS Co-Sponsored Conferences

  • 2013 Lysosomal Disease Gordon Research Conference and Gordon Research Seminar, Saturday, April 13, 2013 - Friday, April 19, 2013
    Location: Lucca (Barga), Italy
    Description: Conference goals: To support participation by junior investigators, including graduate students, postdoctoral fellows and new investigators who do not yet have individual and/or independent sources of funding to support their participation in such conferences. The goal is to have at least 40% of the participants at this meeting in this category and NIH funding will help ensure this level of participation. Indeed, at the 2011 inaugural meetings, fully one-third of the participants were graduate students/postdoctoral fellows/junior faculty. The selection of the meeting as host to a GRS will further enhance such participation by the next generation of leaders in the lysosomal disease research community. To further stimulate applications by investigators-in-training, a number of short talks will be chosen prior to the meeting based on abstract submissions, and moreover, a poster session, comprising nine short talks, will be chosen at the meeting on the basis of the posters which generate the most interest during the afternoon poster sessions.

  • WORLD Symposium 2010 (Lysosomal Disease Network's 6th Annual Research Meeting), Wednesday, February 10, 2010 - Friday, February 12, 2010
    Location: Miami Hilton Downtown, Miami, Florida
    Description: The specific aims of this meeting were to (1) emphasize the strategies for, and identify the obstacles to, moving from translational research to clinical trials; (2) coalesce members of the LD network into functional research collaborations and present to the LDN community progress on the specific projects that are part of the funded U54 RDCRN grant; (3) foster interdisciplinary collaboration with the overall goal of improving knowledge of basic discoveries and clinical manifestations of these diseases; (4) provide an educational forum for young investigators, clinicians, and researchers in the field; (5) identify and discuss the latest findings in the natural history of lysosomal diseases, diagnostic testing and screening, and treatment, with specific focus on (a) inflammatory components of lysosomal diseases and autophagy, especially in the central nervous system, (b) new treatments of the central nervous systems, and (c) ethics and efficacy in treating the presymptomatic or asymptomatic patient; and (6) identify areas requiring additional basic and clinical research and public policy and regulatory attention, such as ethics and economics, and factors that impact implementation of therapy, including newborn screening.

  • 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.

Other Conferences

  • 2012 International Conference for Glycoprotein Storage Diseases, July 27, 2012 - July 30, 2012
    Location: Crowne Plaza Hotel, Charleston, SC
    Description: The International Society for Mannosidosis & Related Storage Diseases (ISMRD) is sponsoring the 2012 International Conference for Glycoprotein Storage Diseases. The Scientific/Family meetings will be held concurrently on July 28th and 29th. Alongside this meeting, they are hosting the extension of the Natural History Study, with clinic days on July 27th and 30th.
Other Names for this Disease
  • Infantile fucosidosis
  • Macrocephaly, brachycephaly, depressed nasal bridge, hypertelorism, thick eyebrows/scalp hair, short stature/neck, seizures, progressive dementia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.