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USHER SYNDROME COALITION
Usher Syndrome Coalition’s mission raise awareness and accelerate research for most common genetic cause of combined deafness and blindness
Feb 1, 2023
Novel mutations in the BEST1 gene cause distinct retinopathies in two Chinese families
To describe the clinical heterogeneity of patients with novel mutations in BEST1.
Feb 18, 2022
ProQR seeking Clinical Trial Participants
Usher Syndrome Coalition announces partnership with ProQR to support clinical trial enrollment for a potential therapy for USH2A.
Jan 31, 2022
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.
Dec 21, 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 24, 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...
May 17, 2021
Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL
CERKL mutations are an uncommon cause of arRP, but they are a significant cause of disease in populations with founder mutations
Dec 12, 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...
Jul 9, 2020
CRISPR start, RP first, 50-year case
By Keng Jin Lee and Kanaga Rajan
Published JAN 31, 2020
Jan 31, 2020
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 31, 2019
Retinitis Pigmentosa and Allied Disorders
From such work, a “multiprotein scaffold complex” model has been proposed for harmonin, whirlin, and sans.
Dec 15, 2018
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.
Apr 22, 2016
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 . . .
Aug 31, 2015
Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protein trafficking to the plasma membrane
To determine the effects of USH3 mutations on CLRN1 function, we examined the cellular distribution and stability of both normal and mutant
Sep 8, 2009
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