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Rubinstein-Taybi Syndrome
Reducing the risk of birth defects and cognitive delay caused by this genetic syndrome

Rubinstein-Taybi Syndrome (RTS) is a combination of mental retardation and bone deformities due to a mutation in the regulatory gene that turns other genes "on" and "off". Although rare, this disease has devastating consequences, causing developmental abnormalities and severe learning disabilities.

Columbia University's Dr. Eric Kandel, a Nobel Prize laureate for his work in the field of memory, finds Rubinstein-Taybi Syndrome a fascinating challenge. Having identified the genes responsible for memory loss in patients with Alzheimer's or Parkinson's diseases, Dr. Kandel's team has devised drugs that could reverse age-related memory loss. But is it possible to restore a memory deficit in a person suffering from a cognitive disease since birth?

Dr. Kandel and his team have modeled RTS in mice and have been able to cure the mice of the mental retardation caused by RTS. Repeatedly turning the affected gene on and off, the team has found it can rescue a major part of the cognitive deficit. Even the behavioral problems expected because of the abnormality at birth have been reversed.

Dr. Kandel and his fellow researchers are committed to helping RTS sufferers and their families find a cure for this disabling disease.
© 2005 Columbia University