Other Names for this Disease
- 3-methylglutaconic aciduria type 2
- 3-methylglutaconic aciduria type II
- Cardioskeletal myopathy with neutropenia and abnormal mitochondria
- Cardioskeletal myopathy-neutropenia
News & Events
ORDR Co-Sponsored Conferences
The Spectrum of Caregiving and Palliative Care in Rare Diseases, Tuesday, June 09, 2015 - Wednesday, June 10, 2015
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.
Nutritional Interventions in Primary Mitochondrial Disorders: Developing an Evidence Base, Tuesday, December 02, 2014 - Wednesday, December 03, 2014
Location: NIH Campus, Bethesda, MD
Description: The goal of this meeting is to explore the use of nutritional interventions, including dietary supplements, in primary mitochondrial disorders (PMD); identify gaps in knowledge; develop a research agenda; and identify research opportunities to promote an evidence base for the use of nutritional interventions in primary mitochondrial disorders.
Scientific and Medical Conference about Barth Syndrome, Thursday, June 26, 2014 - Friday, June 27, 2014
Location: Hilton Clearwater Beach Hotel, , Clearwater, FL
Description: <p>The main objective of the conference is translation of scientific advances discussed at this Conference into therapy for rare diseases like BTHS.<span> </span>The strategy is to assemble interested physicians/researchers to communicate experimental results and clinical findings and stimulate new work, collaborations, and publications.<span> </span>This Conference also provides a forum for critically discussing clinical advances or potential treatments.</p>
2013 Neurobiology of Disease in Children Symposium: Mitochondrial Disease, Wednesday, October 30, 2013 - Wednesday, October 30, 2013
Location: Austin, TX
Description: The topic for the 2013 NDC Symposium is Mitochondrial Disease. The NDC Symposium is a forum for preeminent investigators assembled to discuss recent accomplishments and future directions with a large group of child neurologists, program officers from the National Institutes of Health, and members of dedicated foundations and associations.
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.
Scientific and Medical Meeting about Barth Syndrome , Thursday, July 29, 2010 - Friday, July 30, 2010
Location: Panama City Beach, Florida
Description: The anticipated outcomes of this meeting series were increased collaborations among the participants; an outline of future research strategy, focused on finding a treatment for Barth syndrome; in-depth evaluations of approaches to the treatment of Barth syndrome; and increased communication and publication of material directly relevant to Barth syndrome.
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.
United Mitochondrial Disease Foundation Annual Symposium , Wednesday, June 24, 2009 - Saturday, June 27, 2009
Location: Washington, DC
Description: The objectives of this symposium were to (1) describe the latest findings regarding mitochondrial diseases; (2) share research findings and award new research grants; (3) explore the clinical manifestations of mitochondrial disorders, including diagnosis and treatment considerations, and understand the concepts of mitochondrial disease therapy; and (4) evaluate the links between mitochondrial disease and a host of more well-known diseases.