Dr Melissa Ramocki Receives Funding for Pilot Project

26 January 2012 Baylor College of Medicine announced awards of the first Alkek Center for Metagenomics and Microbiome Research pilot project grants. The Press release list six funded projects. At the top of their list is:

Dr. Melissa Ramocki, assistant professor in pediatrics – neurology – Organismal Shift in the MECP2 Duplication Syndrome.

Project 401

25 January 2012 Families of individuals with MECP2 Duplication Syndrome have formed Project 401. The goal of the project is to raise $80,000 by April 1, 2012 to make a down payment on a research project that represents an important first step toward treatment for MECP2 Duplication Syndrome. The name project 401 alludes both to the date 4-01 (April First) and the amount ($401) that each of 200 family members is hoping to raise or contribute in the next two months. 

Advanced Directives and Intellectual Disabilities: Part 1

PART 1

I have heard some concerns from parents of children with MECP2 Duplication Syndrome about the appropriateness of “DNR Orders.” I am writing this entry to provide some facts and my opinion about DNRs (Do Not Resuscitate Orders) , DNIs (Do Not Intubate Orders), Advanced Directives, Substituted Judgement, and Best Interests.

MECP2X2: 2011 in review

The WordPress.com stats helper monkeys prepared a 2011 annual report for this blog.

Here’s an excerpt:

The concert hall at the Syndey Opera House holds 2,700 people. This blog was viewed about 8,500 times in 2011. If it were a concert at Sydney Opera House, it would take about 3 sold-out performances for that many people to see it.

Click here to see the complete report.

Pam Albert’s Plea to Tim Tebow

Here is Pam Albert’s Plea to Tim Tebow. She is trying to get this video to be viewed by as many people as possible to help get Tim Tebow on board to support her efforts to raise awareness of MECP2 Duplication Syndrome and raise funds for research.

Pam Albert’s MECP2 Duplication Syndrome Website

Most people who read this blog will already been very familiar with Pam Albert’s MECP2 Duplication Syndrome website. For those who are not familiar with it, it is a great resource for families and anyone else interested in the syndrome. It has a lot of great information, including individual information on many of the individuals affected and their families.

This video highlights the contribution of Penn State students’ work to the development of the Website.

Three Approaches to Antibiotics

The immune disorder present in most individuals with MECP2 Duplication Syndrome is a major challenge to health. The exact nature of the disorder is not well understood, although there has been considerable progress in understanding the nature of the disorder that has resulted in improved prevention and treatment of respiratory infections.

MECP2 Meeting in Manchester

Families of individuals with MECP2 Duplication from across the UK and Europe will be meeting in Manchester, UK on January 28, 2012 at the Greater Manchester Police Sports and Social Club. Professor Jill Clayton-Smith geneticist at St. Mary’s Hospital and University of Manchester will give a presentation and answer questions. For more information, contact Rhona Connelly by e-mail at  rhonaconnelly1@aol.com or telephone 07806470290. Please feel free to pass along word of this event to anyone who may be interested.

New Study on Role of MECP2

A new study from scientists from Harvard Medical School adds evidence to the role of the MECP2 gene as a modifier of cell’s reaction to environmental stimuli. In short, too much or too little MECP2 may result in the inability of the brain or other cells to adapt to the environment. This role has been emerging from various evidence over time, and the new study, published in Neuron, adds to this theory and provides evidence on how this happens. It may help to explain why many individuals with MECP2 Duplication or Rett syndrome like routine and show disinterest or avoidance when they encounter new situations or stimuli.

More from the Rett Syndrome Research Trust

For more information on the MECP2 Consortium and how the Rett Syndrome Research Trust is approaching MECP2 Duplication Syndrome, see MECP2 Consortium and MECP2 Duplication Syndrome. Also, for a limited time you can listen to the October 5, 2011 conference call between Monica Coenraads, Executive Director of the Rett Syndrome Research Trust, and parents of children with MECP2 Duplication Syndrome. (This link will only be available until approximately October 19, 2011)