Registre

September 26, 2020

Simons Searchlight Registry

If you have a child diagnosed with CTNNB1 syndrome it is important that you enroll. Your participation is essential to the future development of treatment. There are a few simple steps to follow. Visit https://research.simonssearchlight.org/account/create and create an account. You will need to upload your child’s genetic report. This is followed by a call with a genetic counselor to discuss your child’s medical history and development. Families can email Simons Searchlight Coordinator with any questions on how to enroll (coordinator@simonssearchlight.org).

September 26, 2020

2020 Survey Results

We have just released our 2020 results.  You can continue to update your submission as things change, as long as you use the same codename for your child.  

June 14, 2017

Comprehensive CTNNB1 Syndrome Survey

We have developed a survey that captures the detail of the diagnosis, symptoms, treatments, and therapies related to CTNNB1 Syndrome.  You may update this as time progresses...just be sure to use the same codename for your child.  Be sure to use very unique codenames so that someone else's submission doesn't overwrite yours.

June 14, 2017

Location Survey

We are hoping to get the location of everyone who has been diagnosed with CTNNB1 Syndrome. For the privacy of our children, we want to have just the country and city/state pinned on the map (we will place the pin at the city center). For your child's privacy, please use a codename that doesn't identify your child to anyone else but you! Currently, you may need be signed into a Google Account to access the map. Please note that this is a partially automated process that has to be manually initiated by the website admin, so it may take up to a week for your pin to be added.(The fully automated process costs more money than we can afford right now!).  

 

You should be able to zoom and pan the map to see all of the pins.  Also, you might find that isn't optimized for some phones. However you may be able to click on the [ ] box in the upper right to open a full window.

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The first two facebook link requires acceptance to closed facebook groups. The first is for parents only and the second is for extended family members.  

Site © 2017 par Anthony W. Rose (anthony.rose@ctnnb1.org) pour la sensibilisation mondiale au syndrome du CTNNB1. L’information présente sur ce site ne se substitue pas à un conseil médical personnalisé. Veuillez consulter un clinicien qualifié pour toutes questions concernant le diagnostic génétique, la gestion de la maladie et
la santé.