Foundation Fighting Blindness and Blueprint Genetics Announce Collaboration to Support Genetic Testing and Patient Registry Process for IRD Patients

Published on March 21, 2017

(Columbia, Maryland) – The Foundation Fighting Blindness (FFB), the world’s leading private funder of research for cures for inherited retinal diseases and Blueprint Genetics today announced a collaborative research study to  grow the data in a Foundation-supported patient registry for inherited retinal diseases (IRDs), called “My Retina Tracker”, and, in doing so, advance the clinical trials process.

Read the whole article: Foundation Fighting Blindness and Blueprint Genetics announce collaboration to support genetic testing and patient registry process for IRD patients

Last modified: 07.13.2017

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A Finnish study finds evidence indicating the JPH2 gene to be causative in hypertrophic cardiomyopathy

Published on September 21, 2018

This study1 provides the first substantial evidence of the JPH2 gene associating with monogenic familial hypertrophic cardiomyopathy (HCM). The study ‘Heterozygous Junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure’ was published recently in PLOS ONE. Hypertrophic cardiomyopathy is considered the most common form of inherited cardiomyopathies,…

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