Hope for a world in which treatments for RP are operative, effective, and accessible to all patients.
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.
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.
Cate was diagnosed in 2019. In 2020, her genetic testing revealed INPP5E as the possible cause of her RP. She is in the patient population that doesn't present symptoms associated with Joubert's disease. Click below to read more about non-syndromic retinal degradation due to variants in INPP5E.
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.
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, . . .
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.