The Rare Genomes Project, a study conducted by the Broad Institute, is looking for participants for a research study on rare, undiagnosed or unnamed facial differences. The genetics of those born with craniofacial conditions may tell some of the story behind why these syndromes occurred. I interviewed researcher, Kassandra Nealon about the study via email. She was kind enough to answer questions about the purpose of the study, what participants are required to do, and what they expect to accomplish with your help. Learn more about the Rare Genomes Project on their website.
What is expected of the research participants?
Participants will complete an online form about their family and childhood onset rare and genetically undiagnosed craniofacialcondition. From there, a member of our study team will set up a live video conference with the family to explain this research study and make sure that all of their questions are answered. With permission, we’ll reach out to the patient’s doctors directly to collect a copy of their medical records. Then, we’ll mail a sample collection kit directly to their house. Upon returning the kit to The Broad Institute of MIT and Harvard, samples will be registered in our tracking system and DNA will be processed for exome or genome sequencing. We will then begin analyzing data, comparing it to healthy individuals and identify which mutations in the genome are common, and which are rare and potentially related to their craniofacial condition. If we find results that explain the underlying cause of the rare condition present, we will request a second sample that will be sent to the Partner’s Laboratory for Molecular Medicine (LMM) in Cambridge, MA and will be confirmed in their clinical lab. LMM will provide a clinical report explaining the genetic findings, and these results will be shared with you and your local doctor.
Participants will complete an online form about their family and childhood onset rare and genetically undiagnosed craniofacialcondition. From there, a member of our study team will set up a live video conference with the family to explain this research study and make sure that all of their questions are answered. With permission, we’ll reach out to the patient’s doctors directly to collect a copy of their medical records. Then, we’ll mail a sample collection kit directly to their house. Upon returning the kit to The Broad Institute of MIT and Harvard, samples will be registered in our tracking system and DNA will be processed for exome or genome sequencing. We will then begin analyzing data, comparing it to healthy individuals and identify which mutations in the genome are common, and which are rare and potentially related to their craniofacial condition. If we find results that explain the underlying cause of the rare condition present, we will request a second sample that will be sent to the Partner’s Laboratory for Molecular Medicine (LMM) in Cambridge, MA and will be confirmed in their clinical lab. LMM will provide a clinical report explaining the genetic findings, and these results will be shared with you and your local doctor.
What kind of samples would they need to provide? (Blood, urine, cheek swab, saliva swab, etc.)We will send a collection kit to enrolled families who can choose to have their blood drawn at a Quest Diagnostics Patient Service Center (www.questdiagnostics.com/appointment) or by a phlebotomist of their choice (including at their local physician’s or hospital’s lab). Saliva kits are also available for participants who are unable to have a blood draw. The sample collection kits will be mailed back to the Broad Institute Genomics Platform, where DNA extraction and DNA sequencing will be performed.
What do you plan to do with the information? / What will the study look at?
The overall goal of this project is to connect rare and undiagnosed families directly with genomic researchers to discover all of the genes that cause rare craniofacial diseases, and use this information to increase the rate of rare craniofacial disease diagnosis. We believe it should be easy for rare and undiagnosed patients to participate in research. The vast majority of rare and undiagnosed patients have not participated in research, because doing so often depends on traveling far distances to a doctor’s office. We hope to provide the community with an opportunity to have a direct impact on our understanding of the genes that cause rare disease, by allowing patients to participate, no matter where in the country they live.
Who is eligible to participate?
Patients and families with a rare and genetically undiagnosed condition who live in the US, understand English, had appearance of severe symptoms before the age of 13 and are currently under the care of a doctor that is helping to understand the cause of the patient’s condition are qualified to participate in the craniofacial rare genomes project. At this time, we are unable to include patients and families that have a suspected or known environmentally caused condition, have any condition known not to involve a genetic link or have a genetic diagnosis that fully explains the patient’s condition.
Are there any costs to participate?
Are there any costs to participate?
The cost of the sample collection kit, sample collection at Quest Diagnostics, genomic sequencing, and clinical confirmatory genetic testing will be covered by us.
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