Study Participants Needed for 'Born A Hero' Study...See If You Qualify

Lots of research is happening across the country. Born A Hero needs your help!  See if you qualify for this research opportunity. Read the flyer below and email Carolina Sommer with your name, phone number, email address, and age to receive a questionnaire. Thanks!

Craniofacial Researchers Across the Country Need Your Help!

Many researchers across the country are conducting studies to better understand craniofacial conditions. You can help improve the future of medical care for those born with facial differences by sharing your personal experiences. 

There are countless examples of research papers that benefitted from participants like YOU! Recently, Gabriella Miller and the Kids First Pediatric Research published a study thanks to the assistance of people affected by orofacial clefts. Read their study results here Orofacial Clefts Genetics Study. This publication is informative for medical professionals to better understand how orofacial clefts occur. 

You can help provide insight for current studies to pave the way for major breakthroughs in treatment AND to assist medical providers move toward a more patient-centered care approach.

YOUR willingness to participate is one vital way to give back.

CURRENT OPPORUTNITIES

Review the links below to see if there is a study that you are eligible for and can contribute your family or personal experience to help brighten the future for those born wth facial differences.

ALL CRANIOFACIAL CONDITIONS
Directed at CCA Retreat Attendees and regional Utah families

• University of Utah Study

At the University of Utah and Primary Children's Hospital, we are trying to better understand the impact craniofacial abnormalities have on children and families.  This study will help us both understand and measure the many ways this disorder has affected your child and your family. 

If your child has a craniofacial abnormality (CFA), you may qualify to participate in a study.  We are working with families to create a quality of life (QOL) questionnaire.  The CFA quality of life questionnaire will help providers understand how CFA impacts quality of life of families and those who care for young children with CFA. The goal is to give providers better understanding of the impact the disorder has on families’ lives, while also providing a framework for discussing and solving the problems families face.  We hope the development of this instrument will help other families impacted by CFA .

We will be conducting some focus groups during the upcoming CCA Retreat in Salt Lake. We hope you will share your family’s experiences with CFA with us, so that it can be reflected in the instrument we develop.  The survey here will allow you to sign up for a focus group. It also asks for a limited amount of information about you and your child, to allow us to plan the focus groups and analyze the transcripts. All personal information is very carefully protected.

If you have additional questions, you can email our study team at Cleft-Research@hsc.utah.edu. The lead researcher and doctor for this study is Jonathan Skirko, MD

• Born A Hero.org Study 

Families and individuals with Pfeiffer Syndrome, Apert Syndrome, Crouzon Syndrome, and Muenke Syndrome are invited to inquire about the reserch being conducted by Dr. Jabs and Carolina Sommer with the Born A Hero, an organization empowering kids born with Pfeiffer Syndrome. 

APERT SYNDROME

• Apert Syndrome Study

Dr. Drorit Gaines in California is conducting research on the connection between ADHD, Autism and sensory disorders among children born with Apert syndrome. All that is required for this study is an Apert Syndrome diagnosis, copies of your medical records, and the completion of a questionnaire. Click the link above for more information. 

UNDIAGNOSED

• Rare Genomes Study Project at Massachusetts General Hospital

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. 

Participants will complete an online form about their family and childhood onset rare and genetically undiagnosed craniofacial condition. 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. Click the link above for more information. 

#WonderWednesday: Elementary School in Newington, CT Dances to Raise $4,000

John Patterson Elementary School in Newington, CT danced the night away on June 11th to generously raise money for CCA. The students raised a whopping $4,000. On June 5th, they performed a reader's theater performance of the book "Wonder." Many thanks to the students and teachers of John Patterson Elementary. Check out these great pictures from the event. 

Dance-A-Thin in full swing!

(Left to Right Andrea Obert-Hahn and Denise MacDonald

Special thanks you to teachers, Andrea Obert-Hahn and Denise MacDonald for organizing the fundraiser. 

Please see the video below of the reader's theater to see there dramatic performance of R.J. Palacio's book. We are so grateful for your acts of kindness and celebration of a book that means so very much to our kids and families.

Speech Therapy Camp in Escondido, California July 9-13th

Study Participants Needed for Rare Genomes Project

The Rare Genomes Project sponsored by Massachusetts General Hospital, Broad Institute, and Brigham and Women's Hospital, 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.

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?

 The cost of the sample collection kit, sample collection at Quest Diagnostics, genomic sequencing, and clinical confirmatory genetic testing will be covered by us.