Bilateral and Unilateral Genetic Hearing Loss (BAGHL) and Comprehensive GenOmics For Full Evaluation of Pediatric HEaring Loss (COFFEE)
Principal Investigators: Dr. Margaret Kenna and Dr. Eliot Shearer
It is estimated that 50 to 60 percent of individuals with childhood hearing loss have an underlying genetic cause for their condition. Childhood hearing loss can affect one or both ears, ranges from mild to profound, and encompasses a broad range of conditions including sensorineural hearing loss, conductive hearing loss, auditory neuropathy, and syndromic forms such as Usher syndrome.
The BAGHL and COFFEE research studies, established at Boston Children's in 2019, aim to identify genetic causes of undiagnosed childhood hearing loss and provide tailored approaches to treatment. Methods used include exome and genome sequencing, tailored to each patient and family. To date, the studies have enrolled more than 700 patients and their families, and through advanced genomic technologies, 14 percent of patients with previously negative genetic testing have received diagnostic findings.
Physicians may refer their patients with diagnoses of childhood hearing loss to Dr. Kenna or Dr. Shearer. Once study eligibility is confirmed, a research coordinator will reach out to the family to consent and enroll them. Read more about these and other studies at the Translational Hearing Genomics Lab website.
Gene Therapy for Genetic Hearing Loss
Principal Investigator: Dr. Eliot Shearer
Genetic forms of hearing loss occur when changes in a child's DNA affect how the inner ear develops or functions. Unlike hearing aids or cochlear implants, which help children make better use of available sound, gene therapy aims to address the underlying genetic cause of these forms of hearing loss. Our current research focuses on mutations in the OTOF gene, which provides instructions for making otoferlin, a protein involved in sound signal transmission within the inner ear. We are currently enrolling patients in clinical trials investigating gene therapy for this form of hearing loss.
Hearing Loss in Patients with Usher Syndrome
Principal Investigator: Dr. Margaret Kenna
Usher syndrome is a rare genetic condition that causes hearings loss, retinitis pigmentosa (RP), and balance dysfunction. The degree and onset of the impairments associated with the syndrome vary.
There are three clinical types of Usher syndrome (types 1, 2, and 3) which are grouped according to degree of hearing loss, balance dysfunction, and vision impairment profiles. Our current research focuses on the various clinical assessments that measure these three aspects of Usher syndrome in pediatric patients. We are working closely with doctors in Boston Children’s Department of Ophthalmology and the Otolaryngology Balance Lab to collect patient data from these assessments and analyze these results. Our primary aim is to describe the onset and degree of the symptoms associated with each type of Usher syndrome, and the associated genetic mutations, to ultimately improve the care and treatment of these patients. We also aim to determine which exams most accurately detect Usher syndrome, to possibly facilitate earlier diagnosis.
fasT genOmic heAring loSs Testing (TOAST) Study
Principal Investigator: Dr. Eliot Shearer
Hearing loss is the most common sensory deficit in children and has profound effects on speech and language development. In the United States, most hearing loss in children is due to a genetic cause.
More than 98 percent of newborns in the U.S. undergo newborn hearing screening. This screen identifies many cases of congenital hearing loss, but it has a considerable false-negative rate and provides no information on the underlying cause.
In this study, we enroll newborns and use a cheek swab sample to perform a rapid, comprehensive newborn hearing screen that combines physiologic, genetic, and viral screening. Our aim is to significantly decrease the time to diagnosis of an underlying cause of pediatric hearing loss compared with standard clinical pathways.