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First genome-wide screen to modify HTT mutation in mice developed by NIBR Researchers
Huntington's is a genetic disorder in which nerve cells in certain parts of the brain degenerate due to a buildup of mutant protein encoded by the HTT gene. No cure is available. One possible therapeutic intervention is to reduce or delay the buildup of too much resulting HTT protein. NIBR researchers developed the first genome-wide screen to identify modulators of HTT protein level and test a potential intervention, reducing the amount of cell death in mouse and human neurons. While much more work needs to be done, the Nature Neuroscience paper offers hope for delaying or reducing symptoms of this terrible disease.
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NIBR and Cornell discover a virus that likely causes Theiler's disease in horses
The new Exploratory Virology group with Infectious Disease in Emeryville, CA was charged with finding previously unknown viruses that cause disease. To do this they needed access to epidemiologic data, well documented samples and collaborators who would work with them. The Theiler's disease project came to them through the Cornell Veterinary School and provided a perfect opportunity to develop their methods and to investigate a 100-year-old mystery.
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Rare Disease Research at NIBR
Rare diseases are a key focus of the research strategy at the Novartis Institutes for BioMedical Research (NIBR) where scientists are currently investigating treatments for more than 40 rare diseases.
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Ghanaian and Novartis researchers build scientific bridges
Building connections between NIBR and African scientists and medical communities is critical to solving major health problems that impact millions of people in Africa. By building scientific and medical capabilities in these countries, local scientists and physicians can more effectively address the health of their own populations. One effort is underway with University of Science and Technology (KNUST) in Kumasi, Ghana.
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Disease areas

Understanding the underlying molecular basis of disease has enabled NIBR to turn scientific insights into medical breakthroughs.
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Discovery and Pre/ Clinical Sciences