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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Ataxia telangiectasia


Other Names for this Disease
  • AT
  • Cerebello-oculocutaneous telangiectasia
  • Immunodeficiency with ataxia telangiectasia
  • Louis-Bar syndrome
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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.

  • 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.

  • 2011 Neurobiology of Disease in Children Symposium: Childhood Ataxia, Tuesday, October 25, 2011
    Location: Savannah, GA
    Description: The overall aims of this NDC symposia are to (1) review scientific advances and determine their relevance to current and future clinical practice in child neurology; (2) coordinate efforts among various clinical and basic science disciplines, lay organizations, and the NIH to review current research initiatives and define future directions; and (3) disseminate symposia proceedings to ensure that clinical and basic science disciplines are informed about scientific advances, current research initiatives, and future directions. NDC symposia have brought together clinicians, scientists, caregivers, and NIH program officers to determine how research findings can be translated to enhance clinical understanding and affect clinical practice.

  • 14th International Workshop on Ataxia-Telangiectasia and ATM, Sunday, April 11, 2010 - Wednesday, April 14, 2010
    Location: Crowne Plaza Hotel, Redondo Beach, California
    Description: The goals of this conference were to extend the findings in the area of ATM’s role in the DNA damage response into a better understanding of the neurologic phenotype of A-T.

  • 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.

  • 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.

  • Improving Cellular Therapy for Primary Immune Deficiency Diseases: Recognition, Diagnosis and Management, Thursday, May 21, 2009 - Friday, May 22, 2009
    Location: EPN, 6130 Executive Blvd., Rockville, MD
    Description: The first objective of this conference was to facilitate continued discussion and team building of pediatric hematopoietic cell transplant physicians and pediatric immunologists to work together to develop a North American consortium for treatment of children with PID. The workshop of May 2008 set in motion an important collaborative effort. This new workshop focused on challenging aspects of SCID/CID not previously addressed. Other objectives were to (2) conduct a survey of current practices in the workup and management of children with SCID/CID in preparation for HCT, (3) identify questions for future clinical research by utilizing the results of the survey, and (4) develop best current practice parameters (or guidelines) in this area. The document will be published in a respected peer-reviewed journal.