A world in which treatments
are operative, effective,
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.
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.
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.
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.
Retinitis pigmentosa (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.
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