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National Institute of Child Health and Human Development (NICHD)

Smith-Lemli-Opitz Syndrome and Inborn Errors of Cholesterol Synthesis
June 28–30 2007 Portland, OR



Thursday, June 28
8:30 a.m. Welcome
Dr. Porter and Dr. Steiner
9:00 a.m. Etiology of Metabolic and Physical Abnormalities in SLOS/RSH or Was Anyone Really Surprised When Dhcr7 Knockout Mice Did Not Replicate the Syndrome?
Dr. G. Steven Tint
9:40 a.m.

Effects of Dietary Cholesterol and Simvastatin on Cholesterol Absorption and Synthesis in Smith-Lemli-Opitz Syndrome
Peter Jones

10:40 a.m. The Impact of Bile Acid Composition on Cholesterol Absorption in Humans
James Heubi
11:20 a.m. Mechanisms of Inflammatory Disease in Murine Mevalonate Kinase (MvK) Deficiency
Michael Gibson
1:00 p.m. Sources of Cholesterol for the SLOS Fetus and Embryo
Laura Woollett
1:40 p.m. Adverse Birth Outcome Among Mothers with Low Serum Cholesterol
Max Muenke
2:20 p.m. Cholesterol and other Lipids in Hedgehog Signaling
Phil Beachy
3:30 p.m. Cholesterol and the Placenta: Functional Studies Using Nsdhl-Deficient Mice
Gail Herman
4:00 p.m. Gene Therapy for SLOS: Preliminary Investigations
Gordon Watson
4:30 p.m. The Molecular and Metabolic Basis of SLOS: Thinking Beyond Sterols
Steven Fliesler
5:00 p.m. Retinal Studies of Patients with Smith-Lemli-Opitz Syndrome
Ellen Elias
Friday, June 29
8:30 a.m. Introduction
8:40 a.m. Cholesterol Balance Across the CNS
John Dietschy
9:20 a.m. Cholesterol and Apo E in Neurons and Glial Cells
Jean Vance
10:25 a.m. Lanosterol, a Regulatory Cornerstone in Cholesterol Biosynthesis
Dieter Lotjohann
11:05 a.m. Defective Caveolar Signaling in Smith-Lemli-Opitz Syndrome (SLOS)
Thomas Tulenko
11:45 a.m. Desmosterol is Elevated in the Fetal Brain because, unlike other Cholesterol Biosynthetic Genes, the DHCR24 Promoter Contains NRSE Sequences that Bind REST
Steven Tint
1:30 p.m. Dehydrosteroid Measurements in Maternal Urine or Serum for the Prenatal Diagnosis of Smith-Lemli-Opitz Syndrome (SLOS)
Cedric Shackleton
2:10 p.m. Oxsterol Cross Talk at the Blood-Brain Barrier
Steven Meaney
2:50 p.m. 27-hydroxy-7-dehydrocholesterol is an Endogenous Teratogen in Smith-Lemli-Opitz Syndrome that Decreases Cholesterol Levels in Patients and Increases Phenotypic Severity in Mice
Forbes D. Porter
4:00 p.m. Mechanism of Neurosteroid Protection in a Mouse Model of Niemann-Pick Disease
Daniel Ory
4:30 p.m. SLOS has Cellular Features of Niemann-Pick Disease Type C: Implications for SLOS Therapy
Emyr Lloyd-Evan
5:00 p.m. Discussion
Saturday, June 30
8:30 a.m. Introduction
8:40 a.m. Mechanisms of Disease: The Blood Brain Barrier
Edward Neuwelt
9:10 a.m. Insights Gained from a Large Screening Trial, aimed at Detecting SLOS Prenatally
Marie Roberson
10:00 a.m. Smith-Lemli-Optiz Syndrome in Poland: Diagnosis, Incidence, and Management
Malqorzata Krajewska
10:30 a.m. Cholesterol in Autism
Alka Aneja
11:00 a.m. DHCR7 Mutation Carrier Rates and Prevalance of the RSH/Smith-Lemli-Opitz Syndrome: Where are the Patients?
Malgorzata J.M. Nowaczyk
11:30 a.m. NIH Smith-Lemli-Opitz Syndrome Clinical Trials
Forbes D. Porter
11:50 a.m. Closing Remarks

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Last Reviewed: November 6, 2007
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