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!
Diagnosis-INAD(Infantile Neuroaxonal Dystrophy)
Diagnosis Found through whole exome sequencing-INAD (Infantile Neuroaxonal Dystrophy)