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Finding the Better Solutions
CHORI Scientist Receives Distinguished Schroepfer Medal

CHORI is pleased to announce that CHORI scientist Cedric Shackleton, PhD, of the Center for Genetics, has received the 2010 Schroepfer Medal of the American Oil Chemists Society (AOCS) for his contributions to the development and use of mass spectrometry in the study of disorders of sterol and steroid synthesis and metabolism. The members of this long-established society are not interested in petroleum oil, but rather lipids – or fats – naturally found in the body.

"George J. Schroepfer, Jr. was a famed research in sterols, or compounds related to cholesterol, who died about ten years ago," explains Dr. Shackleton. "This biannual award was established in his memory, and it's a great honor to receive it after my lifetime of working in this field."

“It's a great honor to receive this biannual award after my lifetime of working in this field.”

As part of the award, Dr. Shackleton presented a scientific address at the annual meeting of the AOCS on "The Role of a Disordered Steroid Metabolome in the Elucidation of Sterol and Steroid Biosynthesis and Metabolism," which discussed more recent developments in Dr. Shackleton's research.

Dr. Shackleton's 46-year career has included significant contributions to the field of of steroid biosynthesis and metabolism, including developing novel mass spectrometry techniques for analyzing both steroids and proteins, as well as the identification of a unique metabolite present in maternal urine that can indicate the presence of Smith-Lemli-Opitz Syndrome (SLOS).

"Patients with this disorder do not make enough cholesterol from the beginnings of fetal development and throughout the rest of their lives," explains Dr. Shackleton.
“Cholesterol is so fundamental to life that affected individuals can have serious physical and mental abnormalities as a result.”
"In spite of the bad name cholesterol has in the world of heart heath, it is so fundamental to life that affected individuals can have serious physical and mental abnormalities as a result," says Dr. Shackleton.

SLOS can be a devastating disorder, with an incidence of approximately 1 in 20,000 births in the US, Canada and Europe. Dr. Shackleton's completely non-invasive and entirely risk-free urine analysis test, however, has the potential to replace amniocentesis as the gold standard for prenatal SLOS screening.
Not content to stop there, Dr. Shackleton has been working with CHORI scientist Gordon Watson, PhD, to develop new treatment options for SLOS. The current best, but unsatisfactory, treatment is dietary supplementation with sterol, a dietary form of cholesterol. Dr. Shackleton hopes, as with his novel urine analysis test, to find a better solution – using gene therapy.

"SLOS is caused by the loss of activity of an enzyme involved in cholesterol biosynthesis," explains Dr. Shackleton. "We are trying to develop a way to introduce a gene that will result in the production of an active enzyme in order to make more cholesterol."

While currently utilizing a SLOS mouse model, if Dr. Shackleton is successful, the research could provide the key to finding a way of getting human patients to make more cholesterol on their own as well.

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Tuesday, May 17, 2011 8:19 AM

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