Research Institutions
Part 1

Recent HD Research: Where the Action Is

I. Biological Basis of HD

Johns Hopkins University School of Medicine
http://www.med.jhu.edu/bhdc/huntington.html
Director: Christopher A. Ross, M.D., Ph.D.

• Discovered a gene that, when mutated, causes a disorder called “Huntington’s disease-like 2,” or HDL2, which is very similar to HD.
• Found a way to make the CREB binding protein (a protein involved in the neuronal effects of HD) harmless by cutting out certain molecular areas.
• Determined that HD causes movement abnormalities by preventing the basal ganglia in the brain from correcting its mistakes.

University of California, Irvine

• Found that a certain protein called arfaptin 2 can prevent the huntingtin protein from aggregating, although it is still unclear whether or not these aggregates cause HD.
• Discovered that a class of drugs called “histone deacetylase inhibitors” can actually prevent, and in some cases reverse, brain cell death in fruit flies.

Weill College of Medicine at Cornell University

• Used metabolism studies to show that mice who have the HD allele do not use energy as efficiently as normal mice do.

University of Pennsylvania School of Medicine

• Used fruit flies to show that certain protein chaperones may suppress HD.
• First to discover that HD causes proteins to aggregate in the brain.

Stanford University

• Found that huntingtin aggregates cause proteasomes to malfunction, which creates problems when toxic proteins collect.
• For more information about research at Stanford, click here.

Mayo Clinic

• Researched why mutant proteins cannot be degraded in patients with HD.

Last Modified: 04/12/2007

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