Reversing Rett

The following is excerpted from the Rett Syndrome Research Trust website

There are 30,000 individual genes in the human genome. A gene may code for wavy hair or blue eyes, or susceptibility or resistance to disease. But there is another category of genes, studied in the emerging field of epigenetics. These are the master genes which function as controllers, switching other genes on or off in response to developmental requirements or environmental stressors to maintain normal growth and health. Epigenetics is impacting research in everything from cancer to psychiatric disorders.

Mutations in a gene called MECP2 are the cause of Rett Syndrome. MECP2 governs many other genes. Recent work suggests that it orchestrates, directly or indirectly, the activity of perhaps thousands of genes that must be properly coordinated to produce a correctly functioning brain and nervous system. Restoration of adequate levels of MECP2 has been shown to undo the damage caused by a mutated copy of the gene. This shows us the powerful reach of MECP2's influence, as symptom after symptom disappeared in fully mature models of Rett Syndrome.

This astonishing preclinical breakthrough presents us with the urgent challenge of determining whether such results can be achieved in human sufferers of Rett Syndrome.

The Rett Syndrome Research Trust is currently supporting key projects which not only offer the possibility of curing Rett Syndrome and related disorders, but may also identify drugs that could rapidly enter clinical trials to improve the lives of suffering individuals in the near term.

To read more detail about the Rett Syndrome Research Trust's strategic portfolio of projects and how your generous donations are being used, click here...