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Feb 1, 2023
USHER SYNDROME COALITION
Usher Syndrome Coalition | usher-syndrome.org | Westford, MA | 800.946.9203 Mission The Usher Syndrome Coalition’s mission is to raise...
Feb 18, 2022
Novel mutations in the BEST1 gene cause distinct retinopathies in two Chinese families
Zhi-Hong Zhu , Xin Jin , Yi-Xin Zhang , Rui Wang , Tong Wu , Wei Liu , Ze-Hua Chen , Hai-Nan Xie , Lan-Lan Chen , Zi-Hao Liu , Hou-Bin...
Jan 31, 2022
ProQR seeking Clinical Trial Participants
Usher Syndrome Coalition announces partnership with ProQR to support clinical trial enrollment for a potential therapy for USH2A.
Dec 21, 2021
First patients dosed in phase 2/3 gene therapy trial for retinitis pigmentosa
The first patients have been dosed in the phase 2/3 Sirius and Celeste clinical trials investigating QR-421a in patients with USH2A.
May 23, 2021
Clinical Trial News: Positive results in Usher syndrome and RP clinical study
ProQR news – Positive results achieved in our ongoing Usher syndrome and retinitis pigmentosa research.
May 16, 2021
Dissecting the role of EYS in retinal degeneration: clinical and molecular aspects and its implications for future therapy
Ana B. Garcia-Delgado , Lourdes Valdes-Sanchez , Maria Jose Morillo-Sanchez , Beatriz Ponte-Zuñiga , Francisco J. Diaz-Corrales , Berta...
Jul 8, 2020
A Review of Gene, Drug and Cell-Based Therapies for Usher Syndrome
Lucy S. French, Carla B. Mellough, Fred K. Chen, and Livia S. Carvalho | Frontiers Cell. Neuroscience | 09 July 2020 | Sec. Cellular...
Jan 31, 2020
CRISPR start, RP first, 50-year case
By Keng Jin Lee and Kanaga Rajan
Published JAN 31, 2020
Dec 31, 2019
USH2A Gene in Retinitis Pigmentosa: A Tale of Three Patients
By Patricia C Sanchez Diaz, DVM, PhD, FAAO Purpose This report aims to illustrate the impact of genetic testing in the diagnosis and...
Dec 15, 2018
Retinitis Pigmentosa and Allied Disorders
From such work, a “multiprotein scaffold complex” model has been proposed for harmonin, whirlin, and sans.
Apr 21, 2016
Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa
Targeted next-generation sequencing (NGS) has been demonstrated to be an effective strategy for the detection of mutations in RP.
Aug 30, 2015
Apparent Usher Syndrome Caused by the Combination of BBS1-Associated Retinitis Pigmentosa and SLC26A4-Associated Deafness
The clinical features of a known mendelian disease can occasionally be mimicked by the random co-occurrence of 2 different . . .
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