This page is dedicated to the Childhood Hearing Loss research study, one of 57 studies supported by the Boston Children’s Rare Disease Collaborative (CRDC). For more information about the CRDC, please visit our home page. Established in 2018, the CRDC supports pediatric rare disease research and provides families with genetic diagnoses that enable personalized treatments, including precision medicine and targeted therapies.
The Childhood Hearing Loss research study, established at Boston Children’s in 2019, and led by Dr. Margaret Kenna and Dr. Eliot Shearer, has enrolled more than 650 patients and their families to date. The study aims to identify genetic causes of undiagnosed childhood hearing loss and provide personalized medicine.
Disease Information
Childhood hearing loss can affect one or both ears and ranges from mild to profound. Even mild hearing loss can interfere with a child’s speech and language skills. Hearing loss in children can be present at birth (congenital) or develop later in childhood (acquired). Childhood hearing loss encompasses the following conditions:
- Sensorineural hearing loss
- Conductive hearing loss
- Mixed conductive-sensorineural
- Auditory neuropathy
- Enlarged vestibular aqueduct
- Cochlear nerve hypoplasia
- Syndromic hearing loss
- Usher syndrome
It is estimated that 50-60% of individuals with childhood hearing loss have an underlying genetic cause for their condition. Learn more about childhood hearing loss at Boston Children’s.
Key Outcomes
Through advanced genomic technologies, 14 percent of patients with previously negative genetic testing received diagnostic findings.
Genes Identified in Study Patients
ACTB ADGRV1 ALMS1 CABP2 CDH23 CHD7 COL11A1 COL11A2 COL2A1 DIAPH1 DMXL2 DSPP EYA1 FGFR3 GJB2 KITLG KMT2C LOXHD1 MITF MYH14 MYO15A MYO3A MYO6 MYO7A NPC1 OTOG OTOGL PAX3 PTPN11 SLC26A4 STRC TBC1D24 TCOF1 TECTA TMPRSS3 TRIOBP TYR USH2A WNT10A GATA2 TMC1 PKHD1L1
Participate in Research
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 their studies, including the Childhood Hearing Loss study, on the Translational Hearing Genomics Lab.
Patient Care
Patients and their families with childhood hearing loss can be seen by an expert multidisciplinary team in the Deaf and Hard of Hearing Program at Boston Children’s. Learn more about childhood hearing loss.
Patient Stories
In 2020, our team evaluated a 10-year-old patient with hearing loss and found no cause of genetic hearing loss within the known hearing loss genes. Dr. Shearer’s team used new genome sequencing technologies to look outside the already established hearing loss genes. They uncovered genetic variants in a gene called polycystic kidney and hepatic disease 1-like 1 (PKHD1L1). The team then initiated an international collaboration and identified three other patients with hearing loss due to likely pathogenic variants in the PKHD1L1 gene. The family now has an answer to why their child has hearing loss and uncovering this diagnosis is the first step towards possible future gene therapy for this type of hearing loss.
Investigators
Divisions
Notable Publications by Investigators
Disease Support Organizations
American Speech-Language-Hearing Association
The American Speech-Language-Hearing Association (ASHA) is the national professional, scientific, and credentialing association of audiologists, speech-language pathologists, scientists, assistants, and other affiliated professionals, dedicated to transforming lives.
American Society for Deaf Children
The American Society for Deaf Children (ASDC) is committed to empowering all families with deaf and hard-of-hearing children and youth by embracing full language and communication access in inclusive environments through mentoring, advocacy, resources, and collaborative networks.
Beginnings
Beginnings for Parents of Children who are Deaf or Hard of Hearing is a non-profit that serves families across North Carolina whose children from birth to age 22 are deaf or hard of hearing, to understand hearing loss as well as the diverse needs of children who are deaf or hard of hearing. This support helps families make informed decisions and empowers them to advocate for their child’s needs.
Hands & Voices
Hands & Voices is a parent-driven organization that supports families with children who are Deaf or Hard of Hearing without a bias around communication modes or methodology.
Hearing Loss Association of America
Hearing Loss Association of America (HLAA) is the nation’s leading organization whose mission is to open the world of communication to people with hearing loss by providing information, education, support, and advocacy.
National Deaf Children's Society
NDCS is a nonprofit organization dedicated to overcoming social and educational barriers for deaf children and young people.