Request for info from Moms

Monica Coenraads is the Executive Director of the Rett Syndrome Research Trust. She feels that there might be something useful for understanding both Rett Syndrome and MECP2 Duplication Syndrome to be learned from women who carry the MECP2 duplication but do not have symptoms. Typically these would be moms or sisters of boys with MECP2 Duplication syndrome. She is looking for women or girls who have the duplication, are free of symptoms, have been tested for skewing (the selective inactivation of the X chromosomes with the duplication), and have been found to have normal skewing. If you happen to fit this profile, please consider contacting Monica.

Dr. Zoghbi’s June 2009 NIH Lecture

Dr. Huda Zoghbi agve a great lecture on “Neurobiology of Rett syndrome and related disorders” in June 2009 for the National Institute of Health. parts of the one-hour lecture are technical but much of it in plain language. The lecture does a great job of describing how MECP2 Duplication Syndrome was discovered and some of the similarities and differences between MECP2 Duplication Syndrome. Its well worth watching.

Is all autism related to the MECP2 Gene?

29 October 2009 – The relationship between MECP2 Duplication syndrome, Rett Syndrome, and autism appears to be a complex one.  Boys with MECP2 Duplication syndrome and girls with Rett syndrome clearly have autistic features associated with atypical MECP2 genetics. In some other cases of autism, atypical MECP2 genes also seem to be implicated. It has generally been believed, however, that most autism was not related to the MECP2 gene or its expression.

The Strength of Families: Solving Rett Syndrome

This is a great 2003 “Research Channel” video from the Howard Hughes Medical Institute abiut the genetic basis for Rett syndrome. Although this is about Rett syndrome, not  MeCP2 Duplication Syndrome, Dr. Huda Zoghbi does a great job of explaining the role of the MeCP2 gene. It’s an hour long, but it is well worth watching.

Dr. Huda Zoghbi: The Strength of Families: Solving Rett Syndrome