HumanDBs

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NBDC Research ID:hum0202-v1

Release info

Latest

Title

Study of genetic background and time course of congenital hearing loss to increase efficacy of auditory, speech, and language therapy.

Research overview

Aims: To analyze genetic background of congenital to prelingual childhood-onset hearing loss to increase efficacy of auditory, speech, and language therapy.

Methods: DNA samples extracted from peripheral blood samples of prelingual childhood-onset hearing loss patients and their parents were subjected for subsequent genomic analyses. Auditory tests were also underwent.

Targets: Patients and their parents

Datasets

	Dataset ID	Access type	Type of data	Release date
	JGAD000493	Controlled-access (Type I)	NGS (Exome)	2021-11-05

Data provider

Principal Investigator: Tatsuo Matsunaga
Affiliation: Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center

Research projects

Name	URL
No data

Grants

Name	Title	Project number
KEKENHI Gran-in-Aid for Scientific Research (C)	Molecular functional analysis of ZBTB10, the novel candidate deafness gene associated with cochlear nerve hypoplasia	15K10773
KEKENHI Gran-in-Aid for Scientific Research (C)	Molecular, Cellular, and in vivo analysis of SLC12A2, a novel candidate of deafness gene	18K09336
Tailor-Made Medical Treatment with the BioBank Japan Project (BBJ), Japan Agency for Medical Research and Development (AMED)	Multi-Centered Genome-Associated Research for Congenital Hearing Loss and H7N9 Vaccine and Development of the Sample Banking System to BBJ for the Collected Samples	JP15km0305011
National Hospital Organization Collaborative Clinical Research	Study of Genetic Background and Time Course of Congenital Hearing Loss to Increase Efficacy of Auditory, Speech, and Language Therapy.	H27-NHO(感覚)-02

Related publications

Title	DOI	Datasets
Variants Encoding a Restricted Carboxy-Terminal Domain of SLC12A2 Cause Hereditary Hearing Loss in Humans	https://doi.org/10.1371/journal.pgen.1008643	JGAD000493

Controlled access users

Principal Investigator	Affiliation	Country/Region	Research title	Period of data use	Data in use (Dataset ID)
No data