Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA
Other Names for this Disease
- Proximal tubulopathy, diabetes mellitus and cerebellar ataxia
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.
Mitochondrial Physiology and Medicine, Wednesday, September 07, 2011 - Sunday, September 11, 2011
Location: Marine Biological Laboratory, Woods Hole, MA
Description: An incredibly enriched and ambitious program has been developed including a speaker list that represents a veritable “Who’s Who” in mitochondrial research plus two internationally-acclaimed leaders in mitochondrial research and disease as keynote speakers: Drs. D. Clapham and D. Wallace, both members of National Academy of Sciences. The symposium will focus on 5 overarching themes: (1) mitochondrial morphology, movement, and dynamics, (2) mitochondrial systems biology, (3) mitochondrial ion channels and transporters, (4) mitochondrial communication and signaling, and (5) mitochondria in cell death and disease. These topics represent an integration of mitochondrial physiology and medicine from molecular to human levels with a special emphasis on the role of mitochondria as agents and therapeutic targets in combating disease. We expect that this conference will attract approximately 150-200 basic and clinical scientists across all career stages working at the cutting edge of mitochondrial research. The Society of General Physiologists and the members of organization committee are poised to ensure the success of this symposium. It is our aim that through open dialogue and communication, new and important ideas and novel therapies will emerge as a direct result of this timely meeting.
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.
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.
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.
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.