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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Pontocerebellar hypoplasia type 6


Other Names for this Disease
  • Encephalopathy fatal infantile with mitochondrial respiratory chain defects
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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.

  • Challenges and Opportunities in Primary Mitochondrial Diseases, Thursday, March 08, 2012 - Friday, March 09, 2012
    Location: Rockville, MD
    Description: The National Institutes of Health, Office of Rare Diseases Research and The United Mitochondrial Disease Foundation offer a 2-day meeting in March 2012 in Rockville, Maryland. The purpose of the meeting is to survey obstacles and needs of the Primary Mitochondrial Diseases Research and Development Community that could enhance translation of basic science discoveries to the development of diagnostics and therapeutics.An executive summary and white paper from the meeting can be accessed from the conference website below.