Refsum disease, infantile form
Other Names for this Disease
- Infantile form of phytanic acid storage disease
- Infantile Refsum 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.
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.
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.
Nutritional Challenges in the High-Risk Infant, Monday, September 14, 2009 - Tuesday, September 15, 2009
Location: DC Metro Area,
Description: Evidence was critically evaluated at this workshop. Current gaps in knowledge in this area were identified and research priorities were formulated. The workshop summary will provide NICHD and the scientific community a template to address the scientific and clinical issues related to nutrition and neonatal care.
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.