![]() “The team at Akouos was interested in the potential of genetic therapy to treat a variety of hearing disorders,” says Alagramam. The company has licensed the rights to develop and commercialize the technology developed in Alagramam’s lab, pending demonstration of safety and efficacy in future clinical trials. Alagramam and his team generated the first mouse models for progressive hearing loss associated with Y176X and N48K mutation.įounded in 2016, Akouos is developing precision gene therapies that have the potential to restore and preserve hearing. USH3A is caused by mutations in the clarin-1 gene Y176X and N48K are the most common mutations in this gene among USH3A patients. Maniglia Chair for Research and Education and Professor at Case Western Reserve University School of Medicine. The partnership is based on research developed in the lab of Kumar Alagramam, PhD, Director of Research for University Hospitals Ear, Nose & Throat Institute, and Anthony J. Innovations in Ear, Nose & Throat | Fall 2019 Kumar Alagramam, PhDīoston-based Akouos has entered into an exclusive license to develop a gene therapy jointly owned by University Hospitals Cleveland Medical Center and Case Western Reserve University The pioneering technology has the potential to treat hearing loss associated with Usher syndrome type 3A (USH3A), a rare, progressive genetic disorder characterized by sensorineural hearing loss and retinitis pigmentosa that advances to complete vision loss. JD148539 - Sequence 129563 from Patent EP1572962.ĪK024943 - Homo sapiens cDNA: FLJ21290 fis, clone COL01954.Researchers develop pioneering gene therapy technology JF432227 - Synthetic construct Homo sapiens clone IMAGE:100073392 Usher syndrome 1C (autosomal recessive, severe) (USH1C) gene, encodes complete protein.ĬU677569 - Synthetic construct Homo sapiens gateway clone IMAGE:100019808 5' read USH1C mRNA.ĪB006955 - Homo sapiens mRNA for AIE-75, complete cds.īX641129 - Homo sapiens mRNA cDNA DKFZp686A09227 (from clone DKFZp686A09227). KU178499 - Homo sapiens Usher syndrome 1C isoform 2 (USH1C) mRNA, partial cds. KU178498 - Homo sapiens Usher syndrome 1C isoform 1 (USH1C) mRNA, partial cds, alternatively spliced. ![]() KJ904644 - Synthetic construct Homo sapiens clone ccsbBroadEn_14038 USH1C gene, encodes complete protein. Position: hg19 chr11:17,515,879-17,565,854 Size: 49,976 Coding Exon Count: 27ĭescriptions from all associated GenBank mRNAsĪF039699 - Homo sapiens antigen NY-CO-37 (NY-CO-38) mRNA, complete cds.ĪF039700 - Homo sapiens antigen NY-CO-38 (NY-CO-38) mRNA, complete cds.ĪB018687 - Homo sapiens mRNA for autoimmune enteropathy-related antigen AIE-75, complete cds.īC016057 - Homo sapiens Usher syndrome 1C (autosomal recessive, severe), mRNA (cDNA clone MGC:23100 IMAGE:4867369), complete cds.ĪK225614 - Homo sapiens mRNA for harmonin isoform a variant, clone: REC01285.ĪK300936 - Homo sapiens cDNA FLJ51329 complete cds, highly similar to Harmonin.ĪK290788 - Homo sapiens cDNA FLJ77086 complete cds, highly similar to Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. RefSeq Summary (NM_153676): This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. Description: Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant b3, mRNA.
0 Comments
Leave a Reply. |
Details
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |