- 7-Dehydrocholesterol reductase deficiency
- Lethal acrodysgenital syndrome
- Polydactyly, sex reversal, renal hypoplasia, and unilobular lung
- RSH syndrome
- Rutledge lethal multiple congenital anomaly syndrome
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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.
Smith-Lemli Opitz and other Inborn Errors of Cholesterol Synthesis, Thursday, June 27, 2013 - Saturday, June 29, 2013
Location: Embassy Suites-International Airport, Pittsburgh, PA
Description: The goals of the meeting are to incorporate new investigators into the STAIR research community, form collaborations and cooperation’s among those investigators, continue the success of trainees in their academic career paths and research funding and productivity, and invest into cutting-edge research strategies to development therapeutic interventions for disorders of sterol and isoprenoid metabolism. The study of inborn errors of sterol metabolism provides a unique opportunity to study the role of cholesterol synthesis and homeostasis in more frequent multifactorial-based birth defects and neurological disturbances such as autism. The conference will provide a forum to tackle rare sterol related disorders and will also contribute to a better understanding of the pathogenesis of cholesterol-based diseases that affect millions of individuals world-wide such as atherosclerosis, hypertension, and autism.
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.
Smith-Lemli-Opitz Syndrome and Inborn Errors of Cholesterol Synthesis, Wednesday, June 27, 2007 - Friday, June 29, 2007
Location: Embassy Suites Hotel, Portland, OR
Description: The goal of this meeting was to promote interactions between scientists with expertise in cholesterol homeostasis, brain cholesterol metabolism, embryonic development, and oxysterol and neurosteroid biology with clinician-scientists studying and treating patients with inborn errors of cholesterol synthesis. It was anticipated that these interactions would lead to collaborative projects that will ultimately improve our understanding and treatment of these genetic disorders.
Workshop on Smith-Lemli-Opitz Syndrome, Tuesday, September 26, 1995 - Wednesday, September 27, 1995
Location: Bethesda, MD
Description: The goals of this workshop were for participants to establish collaborative arrangements in pursuing their research interests and plan to establish a registry for Smith-Lemli-Opitz syndrome to facilitate research in the various aspects of this disease.