Posts

Rare Genomes Project-Genetic Testing Opportunity

We are thrilled to be collaborating with the Rare Genomes Project! If you are a patient or parent who had severe symptoms before the age of 13 I highly encourage you to reach out to them for a genetic testing opportunity.

“The Rare Genomes Project aims to increase rare and undiagnosed families’ access to genomic research, empowering patients to directly accelerate the pace of rare disease diagnosis. This project was designed to be a direct partnership between researchers and patients, so we can better understand their conditions.”

Who should apply to participate?

Patients and families with a rare and genetically undiagnosed condition who:

    • Understand English
    • Live in the United States
    • Had an appearance of severe symptoms before the age of 13
    • Are currently under the care of a doctor that is helping to understand the cause of the patient’s condition

The Rare Genomes Project is being launched by researchers Daniel MacArthur and Heidi Rehm at The Broad Institute of MIT and Harvard, in collaboration with Massachusetts General Hospital and Brigham and Women’s Hospital. All genomic sequencing is performed at The Broad Institute’s Genomics Platform.

Our team is made up of scientists, clinicians, genetic counselors, coordinators, and patient advocates.

There are no costs to you to participate in this study. Funding for this project is currently provided by the National Institutes of Health (NIH) and The Broad Institute of MIT and Harvard.

Everything you need to participate – including the cost of the sample collection kit, sample collection at Quest Diagnostics, genomic sequencing, and clinical confirmatory genetic testing will be covered by us.

Visit their website for more information, application and contact information:  https://raregenomes.org/home

Many of our beautiful Aware of Angels portraits are featured on their website. Thank you Rare Genomes for this opportunity!

Rare Genomes Project

AOA at Global Genes Summit 2016

Aware of Angels was so honored to have portraits on display this year at the annual Global Genes Advocacy Summit. I was able to bring 12 of my Angels with me and the photos were a larger than life 48″x48″. I honestly was so excited (and a bit emotional:) to have them on display, raising awareness for these beautiful children and their rare diagnoses has been a goal since day 1. What a great opportunity this was to get them in front of hundreds of people.

I was also able to network with amazing people and connect with great organizations like the Mauli Ola Foundation http://www.mauliola.org/   Rare Science http://www.rarescience.org/rare-bear-program/  and Little Miss Hannah Foundation  http://littlemisshannah.org/ In a special collaboration with Rare Science, all of our Angels were sent an invitation to participate in the RARE bear army. I brought one home for my RARE Angel and several more of our Angels have been receiving theirs in the mail. This organization is dedicated to finding cures for rare disease. If you haven’t found them all ready look them up!

The Summit experience was very educational and I had an amazing time with some of my best rare friends! If you have the opportunity I recommend going. Until next time! Thank you so much Global Genes! https://globalgenes.org/

My Sillies