Current Retinitis Pigmentosa News and Events

Current Retinitis Pigmentosa News and Events, Retinitis Pigmentosa News Articles.
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Scientists identify locations of early prion protein deposition in retina
The earliest eye damage from prion disease takes place in the cone photoreceptor cells, specifically in the cilia and the ribbon synapses, according to a new study of prion protein accumulation in the eye by National Institutes of Health scientists. Prion diseases originate when normally harmless prion protein molecules become abnormal and gather in clusters and filaments in the human body and brain. (2021-01-29)

Stem cell-based screen identifies potential new treatments
In a recent study published in Stem Cell Reports, Seba Almedawar, PhD, and colleagues with the Center for Regenerative Therapies TU Dresden, Germany, used induced pluripotent stem cells (iPSCs) derived from the skin of healthy donors and of patients with retinitis pigmentosa to find drugs with the potential to enhance RPE phagocytosis. (2020-11-25)

Scientists use gene therapy and a novel light-sensing protein to restore vision in mice
A newly developed light-sensing protein called the MCO1 opsin restores vision in blind mice when attached to retina bipolar cells using gene therapy. The National Eye Institute, part of the National Institutes of Health, provided a Small Business Innovation Research grant to Nanoscope, LLC for development of MCO1. The company is planning a U.S. clinical trial for later this year. (2020-10-21)

First 'pathoconnectome' could point toward new treatments for neurodegenerative diseases
Scientists from the John A. Moran Eye Center at the University of Utah have achieved another first in the field of connectomics, which studies the synaptic connections between neurons. The lab has produced the first pathoconnectome, showing how eye disease alters retinal circuitry. (2020-09-29)

How night vision is maintained during retinal degenerative disease
New insight on how people with retinal degenerative disease can maintain their night vision for a relatively long period of time has been published today in the open-access eLife journal. (2020-09-22)

Gene therapy: Novel targets come into view
Retinitis pigmentosa is the most prevalent form of congenital blindness. Using a retinitis pigmentosa mouse model, researchers from Ludwig-Maximilians Universitaet (LMU) in Munich have now shown that targeted activation of genes of similar function can compensate for the primary defect. (2020-09-02)

OCT-based technique captures subtle details of photoreceptor function
Researchers have developed a new instrument that has, for the first time, measured tiny light-evoked deformations in individual rods and cones in a living human eye. The new approach could one day improve detection of retinal diseases such as age-related macular degeneration, a leading cause of blindness in people over 55 worldwide. (2020-08-18)

Researchers develop cell injection technique that could help reverse vision loss
University of Toronto Engineering researchers have developed a new method of injecting healthy cells into damaged eyes. The technique could point the way toward new treatments with the potential to reverse forms of vision loss that are currently incurable. (2020-08-13)

KIST finds clue to improve artificial vision for patients with retinitis pigmentosa
A Korean research team has reported important findings that could potentially improve the performance of retinal prostheses creating artificial vision for blind individuals. The Korea Institute of Science and Technology (KIST) had found retinal neural signals arising from electric stimulation are altered depending on disease progression in mice affected by outer retinal degeneration. This research was done in collaboration with Harvard Medical School, Massachusetts General Hospital. (2020-08-10)

Nanotechnology applied to medicine: The first liquid retina prosthesis
Researchers at Istituto Italiano di Tecnologia has led to the development of an artificial liquid retinal prosthesis to counteract the effects of diseases such as retinitis pigmentosa and age-related macular degeneration that cause the progressive degeneration of photoreceptors of the retina, resulting in blindness. The collected data show that this innovative technique is valid to restore the photoreceptive capacity of retinal neurons while preserving their spatial resolution, laying a solid foundation for future clinical trials in humans. (2020-06-29)

Scientists rescue mini retinas from eye disease via new gene therapy approach
Scientists have developed a new gene therapy approach that offers tremendous promise for one day treating an eye disease that leads to blindness and affects thousands of people across the globe. (2020-06-11)

Retinitis pigmentosa research probes role of the enzyme DHDDS in this genetic disease
Researchers who made a knock-in mouse-model of the genetic disorder retinitis pigmentosa 59, or RP59, expected to see retinal degeneration and retinal thinning. As reported in the journal Cells, they surprisingly found none, calling into question the commonly accepted -- though never proved -- mechanism for RP59. (2020-06-11)

Restoring vision by gene therapy
Latest scientific findings give hope for people with incurable retinal degeneration. (2020-06-04)

Researchers pinpoint potential new therapeutic target for eye disease
Multi-disciplinary work led by researchers from Trinity College Dublin has pinpointed a potential new therapeutic target for treating retinal degeneration. The work has discovered that a protein (SARM1) involved in neuronal cell injury may also have a role in the progression of retinal degeneration. The team also showed that removing the protein from experimental models delays photoreceptor death, giving hope that this may help fight blindness. (2020-04-20)

Researchers restore sight in mice by turning skin cells into light-sensing eye cells
Researchers have discovered a technique for directly reprogramming skin cells into light-sensing rod photoreceptors used for vision, sidestepping the need for stem cells. The lab-made rods enabled blind mice to detect light after the cells were transplanted into the animals' eyes. (2020-04-15)

Disturbed retinal gene function underlying canine blindness
A canine study carried out at the University of Helsinki has described a gene variant in the regulatory region of the retina resulting in the abnormal function of retinal genes and, eventually, in the loss of vision in dogs. The study can benefit the diagnostics and treatment of retinitis pigmentosa, a disease suffered by two million human beings globally. (2020-03-10)

Nature Gene Therapy publishes preclinical data of Ocugen's OCU400 genetic modifier
Ocugen, Inc., a clinical-stage company focused on discovering, developing and commercializing transformative therapies to treat rare and underserved ophthalmic diseases, announced today the publication in Nature Gene Therapy of preclinical data of nuclear hormone receptor gene NR2E3 as a genetic modifier and therapeutic agent to treat multiple retinal degenerative diseases. OCU400 (NR2E3-AAV) has received two orphan drug designations. (2020-03-03)

New gene therapy method improves vision in mice with congenital blindness
Mice born blind have shown significant improvement in vision after undergoing a new gene therapy developed by a team of Japanese scientists. (2020-02-06)

Researchers uncover mechanism for how common gene therapy vectors enter cells
Researchers have identified a novel cellular entry factor for adeno-associated virus vector (AAV) types -- the most commonly used viral vectors for in vivo gene therapy. The researchers identified that GPR108, a G protein-coupled receptor, served as a molecular 'lock' to the cell. The discovery could one day enable scientists to better direct AAV gene transfers to specific tissues. (2020-01-23)

Avatar worms help to identify factors that modify genetic diseases
C. elegans worms were genetically edited by CRISPR to introduce human mutations that cause retinitis pigmentaria. The final aim of the project was study which factors influence disease development apart from the main mutation. (2020-01-21)

UNH researchers solve protein structure associated with inherited retinal diseases
UNH Researchers have reported the first structural model for a key enzyme, and its activating protein, that can play a role in some genetically inherited eye diseases like retinitis pigmentosa and night blindness. (2020-01-08)

LSU Health discovers role of 2 proteins in sight and preventing blinding eye diseases
Research led by Nicolas Bazan, MD, Ph.D., Boyd Professor and Director of the Neuroscience Center of Excellence at LSU Health New Orleans School of Medicine, has discovered unique patterns of genetic activity that may lead to the development of blinding retinal diseases. (2019-12-10)

Researchers discover molecular light switch in photoreceptor cells
Transducin, a protein found inside photoreceptor cells in vertebrate eyes, alters its cellular location in response to changes in light intensity, allowing our eyes to adapt to the changes. Researchers from Osaka University have now identified a protein, Cul3-Klhl18 ubiquitin ligase, that regulates the movement of transducin inside rod photoreceptor cells, thereby controlling photosensitivity. Therapies targeting this protein may help treat light-induced vision damage in degenerative diseases such as retinitis pigmentosa. (2019-11-20)

Zooming into cilia sheds light into blinding diseases
A new study reveals an unprecedented close-up view of cilia linked to blindness. (2019-11-05)

Discovery in monkeys could lead to treatment for blindness-causing syndrome
A genetic mutation that leads to a rare, but devastating blindness-causing condition called Bardet-Biedl Syndrome has been discovered in monkeys for the first time. The finding offers a promising way to develop gene and cell therapies that could treat people with the condition, which leads to vision loss, kidney disfunction, extra fingers or toes, and other symptoms. (2019-10-25)

Augmented reality glasses may help people with low vision better navigate their environment
In a new study of patients with retinitis pigmentosa, an inherited degenerative eye disease that results in poor vision, Keck School of Medicine of USC researchers found that adapted augmented reality glasses can improve patients' mobility by 50% and grasp performance by 70%. (2019-08-26)

Optic nerve stimulation to aid the blind
EPFL scientists are investigating new ways to provide visual signals to the blind by directly stimulating the optic nerve. Their preliminary study uses a new type of neural electrode and provides distinct signals. (2019-08-19)

Disruption of glucose transport to rods and cones shown to cause vision loss in RP
Ophthalmology researchers at the University of Louisville have discovered the loss of vision in RP is the result of a disruption in the flow of nourishing glucose to the rods and cones. This disruption leads to the starvation of the photoreceptors. In addition, the failure in glucose metabolism in RP is similar to changes seen in lung cancer. (2019-07-30)

Molecular traffic jam may underlie rare kidney disease, other protein misfolding disorders
Researchers have discovered that some protein-misfolding disorders may arise from a single, previously unrecognized cause: a jam at a specific step in a cellular shipping network called the secretory pathway, which delivers proteins either to the cell surface or one of the cell's protein-disposal systems. They have also found a compound that corrects for this in lab and animal models. (2019-07-25)

Immune system can slow degenerative eye disease, NIH-led mouse study shows
A new study shows that the complement system, part of the innate immune system, plays a protective role to slow retinal degeneration in a mouse model of retinitis pigmentosa, an inherited eye disease. This surprising discovery contradicts previous studies of other eye diseases suggesting that the complement system worsens retinal degeneration. The research was performed by scientists at the National Eye Institute (NEI), part of the National Institutes of Health, and appears in the Journal of Experimental Medicine. (2019-06-17)

Retinal prion disease study redefines role for brain cells
National Institutes of Health scientists studying the progression of inherited and infectious eye diseases that can cause blindness have found that microglia, a type of nervous system cell suspected to cause retinal damage, surprisingly had no damaging role during prion disease in mice. In contrast, the study findings indicated that microglia might delay disease progression. (2019-03-27)

With single gene insertion, blind mice regain sight
People left blind by retinal degeneration have one option: electronic eye implants. UC Berkeley neuroscientists have developed an alternative: gene therapy that, in tests, restored vision in blind mice. A gene for green opsin delivered via virus gave blind mice enough sight to discern patterns on an iPad at a resolution sufficient for humans to read. Given existing AAV eye therapies already approved, this new therapy could be ready for clinical trials in three years. (2019-03-15)

Therapy could improve and prolong sight in those suffering vision loss
Ganglion cells in the eye generate noise as the light-sensitive photoreceptors die in diseases such as retinitis pigmentosa. Now, UC Berkeley neurobiologists have found a drug and gene therapy that can tamp down the noise, improving sight in mice with RP. These therapies could potentially extend the period of useful vision in those with degenerative eye diseases, including, perhaps, age-related macular degeneration. (2019-03-13)

Gene behind long-recognized mitochondrial disease has highly varied effects
Mutations in the mitochondrial gene mt-ATP6, which encodes an essential part of the mitochondrial motor known as ATP synthase that generates cellular energy, are much more variable than previously thought. This prompts the need to develop more precise clinical tests that can better determine the course of treatment for patients affected by mitochondrial disorder. (2019-03-12)

Nerve growth factor: Early studies and recent clinical trials
NGF is the first discovered member of a family of neurotrophic factors, collectively indicated as neurotrophins, (which include brain-derived neurotrophic factor, neurotrophin-3 and neurotrophin 4/5). NGF was discovered for its action on the survival and differentiation of selected populations of peripheral neurons. (2019-01-18)

On the trail of rare genetic disease, scientists uncover key immune regulator
Scientists at Scripps Research have found an important immune system-regulating protein that in principle could be targeted to treat cancers and chronic viral infections. (2018-11-27)

NIH scientists combine technologies to view the retina in unprecedented detail
By combining two imaging modalities -- adaptive optics and angiography -- investigators at the National Eye Institute (NEI) can see live neurons, epithelial cells, and blood vessels deep in the eye's light-sensing retina. Resolving these tissues and cells in the outermost region of the retina in such unprecedented detail promises to transform the detection and treatment of diseases such as age-related macular degeneration (AMD), a leading cause of blindness among the elderly. (2018-11-14)

UCI researchers uncover evidence of restored vision in rats following cell transplant
Researchers from the University of California, Irvine School of Medicine, have discovered that neurons located in the vision centers of the brains of blind rats functioned normally following fetal retina cell transplants, indicating the successful restoration of vision. The research was published today in JNeurosci, the Journal of Neuroscience. (2018-11-05)

Widespread errors in 'proofreading' cause inherited blindness
Research has shown that mistakes in 'proofreading' the genetic code of retinal cells is the cause of a form of inherited blindness, retinitis pigmentosa (RP) with splicing factor defects, which affects up to 2.5 million people worldwide. (2018-10-12)

Irreversible damage to color vision linked to popular erectile dysfunction drug
In a first-of-its-kind study, Mount Sinai researchers have shown that color vision problems caused by retinal damage on a cellular level can result from a high dose of sildenafil citrate, the popular erectile-dysfunction medication sold under the brand name Viagra. The results demonstrate that excessive use of the drug could lead to long-term vision problems, including possible irreversible damage. (2018-10-01)

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