Glycogen storage disease type 2
- Acid maltase deficiency disease
- Aglucosidase alfa
- Alpha-1,4-glucosidase acid deficiency
- Alpha-1,4-glucosidase deficiency
- Cardiomegalia glycogenica diffusa
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ORDR Co-Sponsored Conferences
The Spectrum of Caregiving and Palliative Care in Rare Diseases, Tuesday, June 09, 2015
Location: Building 31, 6C, Room 6, 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.
American Society of Gene & Cell Therapy (ASGCT) 18th Annual Meeting, Wednesday, May 13, 2015 - Saturday, May 16, 2015
Location: New Orleans, LA
Description: From our plenary lectures, this year to be given by Drs. Steven Rosenberg and Anthony Atala, to our 19 scientific symposia featuring invited speakers from across our discipline, to our nightly abstract poster receptions, where the majority of the over 700 abstracts submitted to the Annual Meeting are presented, the ASGCT Annual Meeting is certain to be the premiere scientific meeting in our field.
Economic Considerations in the Development of Therapies for Neuromuscular Disease, Sunday, September 21, 2014 - Tuesday, September 23, 2014
Location: Beaver Hollow Conference Center, Java Center, NY
Description: <p>The goals of the conference are:<span> </span>1.) To provide an informal environment away from competing activities for the interaction/ development of collaborations among established investigators and between senior and new/junior investigators, and to present a collaborative environment for new project development among investigators.<span> </span>2.) To offer senior investigators opportunities to determine the appropriateness of sites/investigators to participate in new trials, providing an entry point for junior trainees/investigators to become involved in studies.<span> </span>3.) To provide an opportunity for industry representatives to interact with clinical investigators to discuss collaboration.<span> </span>These discussions will increase investigator involvement with new industry therapeutics.</p>
Gordon Research Conference and Gordon Research Seminar on Lysosomes and Endocytosis, Sunday, June 15, 2014 - Friday, June 20, 2014
Location: Proctor Academy, Andover, NH
Description: <p>The main goal of the Lysosomes and Endocytosis GRC is to foster the dissemination of current research results and the establishment of new research areas and new collaborations in the area of the cell biology of endocytosis, lysosomes, endosomes and related organelles. We hope that many of these new directions and collaborations will be directed toward the etiology, diagnosis and treatment of rare genetic diseases such as lysosomal storage disorders, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, Niemann Pick disease and tuberous sclerosis, among others.</p>
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.
2013 Lysosomal Disease Gordon Research Conference and Gordon Research Seminar, Saturday, April 13, 2013 - Friday, April 19, 2013
Location: Lucca (Barga), Italy
Description: Conference goals: To support participation by junior investigators, including graduate students, postdoctoral fellows and new investigators who do not yet have individual and/or independent sources of funding to support their participation in such conferences. The goal is to have at least 40% of the participants at this meeting in this category and NIH funding will help ensure this level of participation. Indeed, at the 2011 inaugural meetings, fully one-third of the participants were graduate students/postdoctoral fellows/junior faculty. The selection of the meeting as host to a GRS will further enhance such participation by the next generation of leaders in the lysosomal disease research community. To further stimulate applications by investigators-in-training, a number of short talks will be chosen prior to the meeting based on abstract submissions, and moreover, a poster session, comprising nine short talks, will be chosen at the meeting on the basis of the posters which generate the most interest during the afternoon poster sessions.
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.
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.
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.
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.
Research Challenges in CNS Manifestations of Inborn Errors of Metabolism Workshop, Monday, December 07, 2009 - Wednesday, December 09, 2009
Location: Bethesda North Marriott, Bethesda, Maryland
Description: Jointly sponsored by the National Institute of Health's Office Rare Diseases Research, the National Institute of Neurological Disorders and Stroke, and the Food and Drug Administration's Center for Drug Evaluation and Research, Division of Gastroenterology Products, the goal of this workshop is to bring together those involved in research and investigational treatments for central nervous system aspects of inborn errors of metabolism, and to discuss ways to translate these therapies to clinical trials and beyond.
Society for Inherited Metabolic Disorders Annual Meeting, Saturday, August 29, 2009 - Wednesday, September 02, 2009
Location: Manchester Grand Hyatt, San Diego, CA
Description: The rarity, uniqueness, variability, and the need for an individual approach to treatment make inborn errors of metabolism a very complicated subspecialty. As such, most geneticists do not know these disorders well and only very specialized metabolic centers deal with them. For the United States to remain preeminent in both clinical and research aspects of inborn errors of metabolism, it is critical that young physicians and scientists be attracted to and remain in this important field.