Bears Run for Connor Mansalis

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On November 19 a team from the Executive MBA class of 2018 is running the Berkeley Half Marathon to raise funds for a very important cause that directly affects the son of one of their classmates. Here is more about that cause from Kate Mansalis:

Connor Mansalis was born Sept 3, 2012 and was diagnosed with MECP2 Duplication Syndrome shortly after, when a respiratory arrest and feeding issues landed him in the neonatal intensive care unit at Children’s Hospital of Oakland. We had no idea what this diagnosis meant, and neither did the team of doctors who was caring for Connor. Through extensive internet searching, we came across the Rett Syndrome Research Trust (RSRT) and the 401 project. A non-profit made up of families of children with this diagnosis, the 401 project has raised over $1.2 million and is the largest single source of research funding for MECP2 Duplication. The progress that has been achieved so far has inspired us to join the fight in raising awareness and much needed funds for the very promising cures that are closer than ever. Please join us in supporting this work and donate in honor of Connor, who struggles every day against the hardships of the REVERSIBLE syndrome! Click here for more information.

Thank you!

What is MECP2 Duplication Syndrome?

Unlike Rett Syndrome, which is caused by mutations or deletions in the MECP2 gene, the symptoms that arise from the duplication syndrome are caused, as the name suggests, by having an area of the X chromosome (Xq28), which includes the MECP2 gene, erroneously duplicated. The section duplicated may vary from individual to individual and may also contribute to the severity of the disease.
The syndrome has been diagnosed mostly in boys. The majority inherits the duplication from their mothers who are typically asymptomatic due to favorable X chromosome inactivation (the moms have inactivated the X chromosome that harbors the duplication). Carrier mothers have a 50% chance of passing on the duplication to their children, meaning MECP2 Duplication Syndrome may be quite prevalent.

Learn more about MECP2 Duplication here.

What is the MECP2 Duplication Syndrome Fund at RSRT?

In an effort to immediately leverage RSRT's deep knowledge base and well established global scientific networks the MECP2 Duplication Syndrome Fund at RSRT was created in late 2010. The Fund puts the intellectual and scientific resources of RSRT immediately to work for the MECP2 Duplication/Triplication Syndrome community.
The Fund exclusively supports projects devoted to the study and means of treatment of MECP2 Duplication Syndrome. 100% of every dollar contributed is invested in research - not a single penny goes to overhead.
In 2012, a parent-driven effort was established to raise funds for the initial reversal experiments conducted at the Baylor College of Medicine. Families pledged to raise $401 to cover the cost of the experiments. The initiative was a success, and the 401 Project was born. All funds raised through the 401 Project initiative are directly deposited into the MECP2 Duplication Syndrome Fund at RSRT.

Learn more about RSRT here.

Supporters (3)

  1. Martha scurr 
    5 days ago
  2. Camille Wall 
    6 days ago
  3. Gary Mullaney 
    7 days ago

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