Genetic mutations linked to a form of blindness

Scientists have identified two naturally occurring genetic mutations in dogs that result in achromatopsia, a form of blindness. One of the most promising avenues for developing a cure, however, is through gene therapy, and to create those therapies requires animal models of disease that closely replicate the human condition.
Source: ScienceDaily Headlines - Category: Science Source Type: news

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RARITAN, NJ, March 2, 2020 – The Janssen Pharmaceutical Companies of Johnson &Johnson announced today that the European Medicines Agency (EMA) has granted both PRIME (PRIority MEdicines) and Advanced Therapy Medicinal Product (ATMP) designations to the company’s adeno-associated virus (AAV)-RPGR gene therapy product for the treatment of inherited retinal disease X-linked retinitis pigmentosa (XLRP). PRIME is awarded to increase interactions, optimize development plans and accelerate innovative treatments where there is unmet medical need. Similarly, ATMP status is granted to medicines that are based on gene...
Source: Johnson and Johnson - Category: Pharmaceuticals Tags: Innovation Source Type: news
Conclusions: Patients presenting with PLAHF usually had retinal disorders. PMID: 31889465 [PubMed - as supplied by publisher]
Source: Strabismus - Category: Research Tags: Strabismus Source Type: research
ConclusionsLow vision and nystagmus observed by parents, particularly in the first year of life, may represent a red flag, prompting an appropriate ophthalmological workup for inherited retinal dystrophy.
Source: Italian Journal of Pediatrics - Category: Pediatrics Source Type: research
Inherited retinal degenerations are a common cause of untreatable blindness worldwide, with retinitis pigmentosa and cone dystrophy affecting approximately 1 in 3500 and 1 in 10,000 individuals, respectively. A major limitation to the development of effective therapies is the lack of availability of animal models that fully replicate the human condition. Particularly for cone disorders, rodent, canine, and feline models with no true macula have substantive limitations. By contrast, the cone-rich macula of a nonhuman primate (NHP) closely mirrors that of the human retina. Consequently, well-defined NHP models of heritable r...
Source: Journal of Clinical Investigation - Category: Biomedical Science Authors: Source Type: research
Authors: Tsang SH, Sharma T Abstract Rod monochromatism (achromatopsia) is a congenital cone photoreceptor disorder, which is rare, affecting about 1 in 30,000 individuals. These patients have normal rod function but no detectable cone function; therefore, everything they see is in shades of gray (total color blindness). Patients usually present in infancy with nystagmus and photophobia. Vision is usually about 20/200 or worse; patients have a hyperopic refractive error. Some patients show paradoxical pupillary response; that is, the pupils dilate in bright light. Fundus examination is normal, though pigmentary mot...
Source: Advances in Experimental Medicine and Biology - Category: Research Tags: Adv Exp Med Biol Source Type: research
CONCLUSIONS: We show that genetic testing may help to differentiate between optic atrophy, LCA, and CACNA1F-associated retinopathy at a much earlier age, in absence of electrophysiological examination and by widely overlapping phenotypes. PMID: 30260717 [PubMed - as supplied by publisher]
Source: Ophthalmic Genetics - Category: Opthalmology Tags: Ophthalmic Genet Source Type: research
Hug shirts, smellphones, virtual tastes, bionic eyes and hearing aids doing translations – just a few keywords showing how technology will take human perception to a higher level in the future. Innovative healthcare solutions will go way beyond improving our senses when we experience problems, they will augment our capabilities and open new horizons for humanity. Let’s jump into the pool of details. How humans perceive the sensory cacophony called the world Car. Flower. Smartphone. Leaf. Shadow. Ponytail. Red Sweater. Monitor. Water. Coffee. Beeps. Sidney Bechet tunes. Bicycle. Laugh. Light breeze. Holiday mem...
Source: The Medical Futurist - Category: Information Technology Authors: Tags: Biotechnology Cyborgization Health Sensors & Trackers Medical Professionals Patients body augmentation future Healthcare hearing human human perception Medicine sense sensing smell taste touch vision Source Type: blogs
‘It’s the most colour-blind place on Earth. I had to take four flights to get there. I wanted to celebrate their unique way of seeing the world’I shot this image of Deke, one of the smaller islands of the Pingelap atoll, in the Federated States ofMicronesia, in 2015. I had travelled to the atoll to research achromatopsia, a rare genetic condition that causes complete colour blindness and hypersensitivity to light. In severe cases, all you can see is shades of grey. Worldwide, only one in every 30,000 people have achromatopsia. But on Pingelap, one in 10 do. It ’s the most colour-blind place on Earth...
Source: Guardian Unlimited Science - Category: Science Authors: Tags: Photography Art and design Culture Micronesia Asia Pacific World news Blindness and visual impairment Health Society Genetics Disability Science Art and design books Source Type: news
Authors: Hassall MM, Barnard AR, MacLaren RE Abstract Achromatopsia is a rare congenital cause of vision loss due to isolated cone photoreceptor dysfunction. The most common underlying genetic mutations are autosomal recessive changes in CNGA3, CNGB3, GNAT2, PDE6H, PDE6C, or ATF6. Animal models of Cnga3, Cngb3, and Gnat2 have been rescued using AAV gene therapy; showing partial restoration of cone electrophysiology and integration of this new photopic vision in reflexive and behavioral visual tests. Three gene therapy phase I/II trials are currently being conducted in human patients in the USA, the UK, and Germany....
Source: The Yale Journal of Biology and Medicine - Category: Universities & Medical Training Tags: Yale J Biol Med Source Type: research
ConclusionIn summary, we can report that most of our ALMS patients primarily presented with nystagmus and severe photophobia since early childhood interestingly without night blindness in the absence of systemic symptoms. Only genetic testing analysing both nonsyndromic retinal disease (RD) genes and syndromic ciliopathy genes by comprehensive panel sequencing can result in the correct diagnosis, genetically and clinically, with important implication for the physical health of the individual.
Source: Acta Ophthalmologica - Category: Opthalmology Authors: Tags: Original Article Source Type: research
More News: Achromatopsia (ACHM) | Blindness | Gene Therapy | Genetics | Opthalmology | Science