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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Muscular dystrophy, congenital, infantile with cataract and hypogonadism


Other Names for this Disease
  • Familial congenital muscular dystrophy with gonadal dysgenesis
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Conferences



ORDR-Sponsored Conferences

  • RDCRN 3rd Conference on Clinical Research for Rare Diseases, Tuesday, October 02, 2012
    Location: Hilton Washington DC/Rockville Hotel & Executive Meeting Center, Rockville, MD
    Description: Clinical research in rare diseases presents a number of challenges and unique issues that are not usually considered in the training of clinical investigators through existing training programs. Goals of the conference include: direct instruction of trainees and new investigators in rare disease research methodology; development of a reusable curriculum/syllabus on rare disease research methodology; and stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases.

  • Congenital Muscular Dystrophy: From Clinical Pathology to Underlying Scientific Mechanisms, Exploring the Role of the Myomatrix, Sunday, April 22, 2012 - Tuesday, April 24, 2012
    Location: University of Nevada School of Medicine, Center for Molecular Medicine, Reno, NV
    Description: The goals of the conference are to: 1) Establish the current state of knowledge in different myomatrix research areas germane to the CMDs and to dystrophic pathology, 2) Explore novel mechanisms, intersections and crosstalk of relevant mechanisms and perform comparative analysis across disease models, 3) Design effective strategies and platforms to pursue treatment development for key aspects of CMD clinical pathology to drive future translational opportunities

  • Translational Neuromuscular Research, Diverse Diseases, Convergent Themes, Monday, September 19, 2011 - Wednesday, September 21, 2011
    Location: Beaver Hollow Conference Center, Java Center, NY
    Description: The infrastructure for this conference was developed by the MSG, whose investigators have worked for the past 10 years to secure extramural funding and to develop outcome measures for clinical research/experimental muscle and other neuromuscular diseases. The goal of this conference is to help identify commonalities across therapy development in neuromuscular disease to help ensure that lessons learned in any one disease are disseminated across the neuromuscular community.

  • The Ottawa Conference on New Directions in Biology and Disease of Skeletal Muscle, Wednesday, May 05, 2010 - Thursday, May 06, 2010
    Location: Ottawa, Ontario, Canada
    Description: The conference highlighted current developments in muscle biology, disease, and therapy with presentations by leading international researchers.

  • VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010): Global Approach to Accessibility in Rare Diseases, Orphan Drugs and Neglected Diseases , Thursday, March 18, 2010 - Saturday, March 20, 2010
    Location: Palais Rouge Convention Center, Palermo, Buenos Aires, Argentina
    Description: For the first time, the VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010) was convened in the southern hemisphere in agreement with its aim of globalization of rare diseases research and orphan products development activities.

  • 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.