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A world in which treatments

are operative, effective,

and accessible.

Gene Insights Project. RP Hope is starting a new project. Over time, we will post academic papers, articles and personal stories for each gene mutation identified as a possible cause of non-syndromic retinitis pigmentosa.

Why do this? We regularly read academic papers, articles and anecdotal stories from social shares in the online community regarding RP. In these, different themes are discussed. Some examples: Does diet matter? Do hormonal changes affect RP? Could the progression of the disease dramatically change as a boy or girl begins puberty or a woman enters menopause? Researchers are looking into this, and patients are sharing their stories. Therefore, RP Hope would like to layer, side-by-side, the academic and the anecdotal to see if this could trigger new thinking toward a treatment. We plan to post, research, learn more and hopefully crowd source our understanding of this disease with the goal of increasing its profile in the medical research investor community.  

Organizations, research institutes, RP patients and their families have all created podcasts and videos to raise awareness, build community and search for a treatment. The hope: a future of independence and sight.

Latest academic papers and articles relevant to retinitis pigmentosa; articles that look at research, potential treatments, patient experience and families looking to help.

   

Our hope is to become a resource for families looking for information about RP. But, we're just getting started. We'll post more as we learn more.

Researcher looks through microscope at samples, scientific equipment sits on a table on both sides of the micropscope.
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Bethany Cody USH2A

RP is a group of inheritable blindness retinal diseases characterized by the death of photoreceptor cells and a gradual loss of peripheral vision. Mutations in Usher syndrome type 2 (USH2A) have been reported in RP with or without hearing loss. The present study aimed to identify causative mutations in a cohort of families with RP from China. 

Chad E. Foster LRAT
Lance Kestral Johnson

LRAT mutations cause a severe, early childhood onset, progressive retinal dystrophy. Phenotypic similarities to the retinal dysfunction associated with RPE-specific protein 65 kDa mutations, another visual cycle gene, suggest that LRAT deficiency may show a good response to novel therapies.

200

SNRNP200 is a gene recently identified as a cause of autosomal dominant retinitis pigmentosa (RP). The aim of this study was to report novel disease-associated variants and describe the retinal phenotype in patients with RP due to variants in SNRNP200, a gene encoding a ubiquitously expressed protein important in pre-mRNA splicing

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