Patient Advocacy Foundation, Ear Community, Collaborates in New Kids First Research Project Studying Microtia-title-h1

Patient Advocacy Foundation, Ear Community, Collaborates in New Kids First Research Project Studying Microtia

 

Last month, the Gabriella Miller Kids First Pediatric Research Program (Kids First) selected Dr. Jonathan Seidman of Harvard Medical School – in collaboration with Drs. Ron Eavey (Vanderbilt University Medical Center), and Christine Seidman (Harvard Medical School) – for an opportunity to generate whole genome sequence data for a project on the study of Microtia in Hispanic Populations. This work will be complemented by another Kids First project helmed by Dr. Daniela Luquetti (of the University of Washington) on hemifacial microsomia.

 

Approximately one in every 6,000 children in the U.S. is born with Microtia, a rare congenital birth defect in which the outer ear does not fully develop during the first trimester of pregnancy; along with Atresia, a condition where a person has underdeveloped ear canals, causing hearing loss and craniofacial anomalies. Affecting one or both ears, Microtia and Atresia are diagnosed at birth.

 

For this research project, 400 samples of genetic materials will be sequences by the Broad Institute, in hopes of finding a gene in common and discovering why Microtia and Atresia occur. Ear Community, the first parent-driven nonprofit organization that directly helps children and adults who have Microtia and Atresia, is a collaborator of the project, and is playing an instrumental role in connecting researchers with individuals and families affected by these conditions who wish to participate in these research efforts.

 

Since 2010, Ear Community has worked to foster Microtia and Atresia awareness and assistance to those affected by these conditions. The organization has brought over 8,500 people together from around the world at events that make it possible to share experiences and resources, and to ensure that anyone born with these conditions know that they are not alone. The Ear Community is made up of not only children and adults with Microtia and Atresia and their families, but also teachers, advocates, and medical professionals from around the world who foster awareness and assistance for this population.

 

The organization has donated over 100 new hearing devices and 10 college scholarships. Board members for Ear Community either have these conditions themselves or are a family member of a person who does. According to the organization’s founder, Melissa Tumblin, “I think that if more people learn about Microtia and Atresia, they will be kinder and more accepting.”

 

She added, “As a mother of a child who has Microtia...my hope is that families who have new babies born with Microtia will leave the hospital armed with more answers than questions, and their dreams for their children intact.”

 

Learn More about Ear Community at: EarCommunity.org