Senior Loken Syndrome
- Juvenile nephronophthisis with Leber amaurosis
- Loken-Senior syndrome
- Nephronophthisis with retinal dystrophy
- Renal dysplasia - retinal aplasia
- Renal dysplasia retinal aplasia
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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.
Joubert Syndrome Biennial Conference: Advancing Translational Ciliopathy Research, Enhancing Clinical Care, Monday, October 21, 2013 - Tuesday, October 22, 2013
Location: Westin Boston Waterfront Hotel, Boston, MA
Description: The development of updated healthcare recommendations will be a valuable product from the conference, as currently, there is little comprehensive evidence about the natural history of JSRD available to guide clinical management decisions, and in particular, the necessary frequency of screening for retinal, renal, and hepatic complications, which can be life-threatening. In addition, development of a research agenda going forward will be a valuable asset. As a result of the 2011 Scientific Conference, it was recommended that a study of mortality in JSRD was necessary; investigators have since partnered with the JSRDF to launch a campaign “Mortality matters” to identify the causes of death for those children and adults with JSRD who have died from its complications. In addition, there has been rapid progress in identifying genetic causes for JSRD, with now 19 documented genes, a significant increase over what was known about the genetic causes in 2011. This genetic information is providing some windows into genotype-phenotype correlations.
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.
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.