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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Harlequin ichthyosis


Other Names for this Disease

  • Harlequin fetus
  • Ichthyosis congenita, Harlequin fetus type
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Conferences


ORDR-Sponsored Conferences

  • The Spectrum of Caregiving and Palliative Care in Rare Diseases, Winter 2014
    Location: NIH Natcher Conference Center, Bethesda, MD
    Description: The findings and recommendations resulting from the Workshop will provide guidance to the extramural community as well as to NINR and other Institutes, Offices (e.g., ORDR), and agencies in developing strategies for advancing the science of palliative care and caregiving in rare disease and research programs. It is anticipated that a funding opportunity announcement will result from the Workshop.

  • The 11th Annual North American Genetic Analysis of ABC Transporters Workshop, Wednesday, September 24, 2014 - Thursday, September 25, 2014
    Location: NCI-Frederick, Frederick, MD
    Description: <p>This workshop features presentations from graduate students, post-docs., and senior investigators studying the role of ATP Cassette Binding Proteins in human disease. Phylogenetic studies, model systems, and bioinformatic techniques that shed light in this rapidly developing research area are presented. Because student presentations predominate, unpublished results often are first disclosed at these workshops.</p>

  • Pediatric Dermatology Research Alliance (PeDRA) Annual Conference, Friday, October 18, 2013 - Sunday, October 20, 2013
    Location: Westin O’Hare Hotel , Rosemont, IL
    Description: The goals of the PEDRA annual meetings are to provide an educational platform that will enhance the research skills of PeDRA investigators and establish a forum for the critical review of research proposals developed by PeDRA disease-focused groups and to create a bridge between basic scientists and clinicians to enhance opportunities for research. Each group will identify and prioritize the clinical needs and therapeutic opportunities.

  • The 10th Annual North American Genetic Analysis of ABC Transporters Workshop, Thursday, September 19, 2013 - Friday, September 20, 2013
    Location: NCI-Frederick, Frederick, MD
    Description: The goals of this conference are to bring together multidisciplinary experts in ciliary motility, mucus, mucociliary interactions and other cilia/fluid systems to discuss the latest results in these fields and to investigate new ways of approaching these dynamic interactive systems to further understanding of their properties and impact in human health and disease.

  • 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.

  • 2010 Genetic Alliance Annual Conference , Thursday, July 15, 2010 - Sunday, July 18, 2010
    Location: Bethesda North Marriott Hotel and Conference Center , Bethesda, Maryland
    Description: The Genetic Alliance Annual Conference is consistently inspirational and enables partnership among all stakeholders: advocates and community leaders, health and industry professionals, policymakers and academicians.

  • Frontiers in Ichthyosis Research, Wednesday, June 23, 2010 - Friday, June 25, 2010
    Location: Regal Sun Resort in Lake Buena Vista, Orlando, Florida
    Description: The goals of this conference were to (1) provide an opportunity for investigators to become inspired by ichthyosis patients, thereby helping them focus on facilitating diagnosis, improving understanding of long- and short-term medical and social issues, and developing new therapeutic approaches to treatment and (2) identify new ways in which the investigators, patients, and patient support groups can achieve ongoing synergistic interactions.

  • 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.

  • The Sixth Annual North American Genetic Analysis of ABC Transporters Workshop, Thursday, September 24, 2009 - Friday, September 25, 2009
    Location: Frederick, MD
    Description: The objectives of the meeting were to bring together researchers in the field of ABC transporters to discuss advances in the field and new research findings. Presentations included talks by students and postdoctoral scientists on their current research, overview presentations by leading researchers in the field, and poster presentations. In addition, presentations were given by representatives of rare disease foundations to provide interaction between scientists in the field and the disease foundations. The goals were to bring the top research groups in the field together with representatives from major disease foundations to discuss new data and educate new investigators in the field. New research ideas and funding ideas, productive collaborations, and job opportunities for young investigators were generated.

Other Names for this Disease
  • Harlequin fetus
  • Ichthyosis congenita, Harlequin fetus type
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.