Gaucher ichthyosis restrictive dermopathy
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.
Lysosomal Disease Network's 10th Annual WORLD Symposium 2014, Monday, February 10, 2014 - Friday, February 14, 2014
Location: Manchester Grand Hyatt San Diego, San Diego, CA
Description: This symposium is designed for basic, translational and clinical researchers, patient advocacy groups, clinicians, and all others who are interested in learning more about the latest discoveries in the management and treatment of lysosomal diseases, and the clinical investigation of these advances. This meeting will help researchers and clinicians to better manage and understand diagnostic options for patients with lysosomal diseases; to identify areas requiring additional basic and clinical research, public policy and regulatory attention; and to identify and explore the latest findings in the natural history of lysosomal diseases.
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.
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.
2011 Lysosomal Disease Gordon Research Conference, Sunday, January 23, 2011 - Friday, January 28, 2011
Location: Hotel Galvez, Galveston, TX
Description: This Gordon Research Conference had sessions on topics ranging from the basic science of lysosomal biology and function (but with strong emphasis on pathogenic mechanisms of lysosomal disease), relationships of lysosomal diseases to other neurological diseases, pathogenic cascades, biomarkers, recent advances in therapy, and clinical trials and design. In addition, there was a hot topics session (with speakers chosen close to the time of the meeting so as to include the most recent developments) and a poster session (nine short talks chosen at the meeting on the basis of the posters that generated the most interest during the afternoon poster sessions). In addition, a number of short talks were chosen prior to the meeting based on abstract submissions.
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.
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.