Smith Lemli Opitz Syndrome News and Research

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Scientists uncover unique cellular defects linked with SLOS using novel stem-cell model

Studies performed by a Sanford Research scientist using an innovative stem-cell model for a fatal developmental disorder is the focus of a recent study published in Nature Medicine. Kevin Francis, Ph.D. uncovered unique cellular defects associated with Smith-Lemli-Opitz syndrome (SLOS) by modeling this disease using induced pluripotent stem cells.

21 Apr 2016

UNMC researcher receives $3.3 million grant to study rare diseases that affect children

University of Nebraska Medical Center researcher, William Rizzo, M.D., has received a five-year, $3.3 million grant to study 10 rare diseases that affect children beginning in infancy or early childhood and throughout their life.

20 Oct 2014

Rockefeller University researchers gain new insight into how cholesterol processes in our body

In spite of its dangerous reputation, cholesterol is in fact an essential component of human cells. Manufactured by the cells themselves, it serves to stiffen the cell's membrane, helping to shape the cell and protect it. By mapping the structure of a key enzyme involved in cholesterol production, Rockefeller University researchers and a colleague in Italy have gained new insight into this complex molecular process.

12 Oct 2014

New technique provides better understanding of factors causing Smith-Lemli-Opitz Syndrome

The first proteomic analysis of an animal model of a rare, sometimes deadly birth defect, Smith-Lemli-Opitz Syndrome (SLOS), has revealed that the molecular mechanisms that cause it are more complex than previously understood.

12 Sep 2013

ASHG to honor U of U geneticist with William Allan Award

As a teenager just moved to Iowa from war-ravaged Germany in 1951, John M. Opitz, M.D., wanted to study developmental biology, but his "very Prussian" mother insisted he go to medical school instead.

12 Oct 2011