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Genetic disease treatments and pharmacogenetics: From scientific discovery to medical delivery
Date:11/14/2008

racts with the huntingtin protein, and altered function of PPARd contributes to HD neurodegeneration. If PPARd is involved in this neurological disease, then tractable therapies to boost PPARd would be immediately available, as two recent lines of investigation make PPARd an attractive therapeutic target: (1) highly selective and powerful pharmacological agonists for PPARd have been developed and are currently being studied in clinical trials in humans; and 2) PPARd mediates pro-survival signaling in response to retinoic acid, a compound that has been used for years to treat human patients with leukemia and brain tumors.

"My colleagues and I are very excited about the surprising results of our most recent research on Huntington's disease, since the findings could ultimately lead to the first potential treatment for this currently fatal disease," LaSpada said. "Furthermore, our findings suggest there are drugs that are already available and currently being used in human patients that could be possible new therapies for Huntington's disease."

Albert R. La Spada, M.D., Ph.D., FACMG, is Director of the Center for Neurogenetics and Neurotherapeutics and Associate Professor of Laboratory Medicine, Medicine (Medical Genetics), Pathology, and Neurology at the University of Washington, Seattle. La Spada's research efforts have uncovered a number of connections between pathways involved in transcription and neuron dysfunction. His current work focuses on investigating the molecular basis of neurodegenerative disease.

EIGHT-YEAR CLINICAL OUTCOMES OF ENZYME REPLACEMENT THERAPY IN 884 CHILDREN WITH TYPE I GAUCHER DISEASE

Gaucher disease is a rare genetic disorder that occurs when a person lacks an enzyme called glucocerebrosidase. The most common form of this disorder is type 1 Gaucher disease. Type 1 Gaucher disease can start at any age, but recently it has been shown that about half of all patients are diagnosed before 18 years of age
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Contact: Kristen Long
klong@ashg.org
240-281-2386
American Society of Human Genetics
Source:Eurekalert

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