Current Research News

  • Three drugs are to be tested to treat conditions related to autism, including Rett syndrome, as well at fragile X and tuberous sclerosis complex, as reported in Technology Review. Existing drugs treat the symptoms of the conditions, but not the root cause. The treatment under test for Rett syndrome uses insulin-like growth factor to induce immature synapses to mature.
  • The reported incidence of epilepsy in Rett syndrome may be an overestimate and many cases may be misdiagnosed. Read Victoria Low's essay (pdf) for her University of Otago neuropharmacology course. Victoria is Gabriella's sister.
  • Studies on mice by Australian scientists have shown that mental and physical exercise can improve coordination and movement problems in Rett syndrome. Read the press release (Word document) or download the paper (pdf).
  • A study into the MECP2 gene, which is linked to Rett syndrome, has found that the gene has many more functions than orignally believed. It is known that MECP2 acts as a repressor, or "off" switch, for several genes. The new research has demonstrated that it is also an activator, or "on" switch, for many other genes. This discovery opens the possibility of a treatment for Rett syndrome aimed at MECP2's target genes. (read more)
  • Researchers at Baylor College of Medicine have found that a peptide known to play a role in anxiety is overly plentiful in a mouse model of Rett syndrome. The peptide appears to underlie anxiety-like behavior observed in these mice. The finding, which appears in a recent issue of the Proceedings of the National Academy of Sciences, could provide a clue to treatment for this symptom of Rett Syndrome. (read more)
  • A French group has made a study on the affect of epilepsy on the quality of life in Rett syndrome. The results were obtained by a postal survey of parents, and found that 70% of children experienced seizures and that the seizures had a negative impact on quality of life in 68% of cases. The paper can be read here.
  • Investigators in the US have found a hormone that causes anxiety in Rett syndrome. Hopefully this work will contribute to developing drugs to treat anxiety in Rett syndrome sufferers. We have a copy of a news article on the research here.
  • A recent paper (October 2003) by researchers at the Whitehead Institute for Biomedical Research, led by Professor Rudolf Jaenisch and Michael Greenberg, has identified the function of the MeCP2 protein implicated in Rett Syndrome.
  • In April 2004 Professor Jaenisch and his colleague Sandra Luikenhuis published further important findings on potential therapeutic approaches for Rett Syndrome. Click here to read a press release on this research or follow this link for the full article.
  • In April 2005 a team led by Dr K Makedonski at the Hebrew University in Jerusalem, discovered important links between the deficiency in MeCP2 protein and clinical features of another disorder, Angelman Syndrome, that shares some key features with Rett syndrome.