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Hope for a world in which treatments are operative, effective, and accessible to all patients.

POTENTIAL
TREATMENTS

Non-gene specific treatments

may be our best hope

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.

clinicaltrials.gov

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? For more than a year, we've 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 it's profile in the medical research investor community.  

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Image by MohammadHosein Mohebbi

RPE65 gene mutations lead to a partial or total loss of RPE65 protein function. As a result, all-trans retinal cannot be converted back to 11-cis retinal, and excess all-trans retinal builds up in the retinal pigment epithelium. These abnormalities block the visual cycle, which leads to severe visual impairment beginning very early in life.

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Image by Jurica Koletić

We are focusing on identifying genes causing autosomal dominant form of RP and elucidating underlying pathogenic mechanisms. We show that missense mutations in CAIV , a gene not expressed in retina including photoreceptors or RPE, are responsible for an autosomal dominant form of retinitis pigmentosa (RP17). By identifying new genes for RP, . . .

 

 

 

 

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Image by Peter Nguyen

Recessive mutations in DHDDS cause retinitis pigmentosa (RP59), resulting in blindness. We hypothesized that rod photoreceptor-specific ablation of DHDDS would cause retinal degeneration due to diminished dolichol-dependent protein N-glycosylation.

 

 

 

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Available

Feb 2022

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