Last Posted: Jan 02, 2020
- Gene editing prospects for treating inherited retinal diseases.
Benati Daniela et al. Journal of medical genetics 2019 Dec
- Genome Editing as a Treatment for the Most Prevalent Causative Genes of Autosomal Dominant Retinitis Pigmentosa.
Diakatou Michalitsa et al. International journal of molecular sciences 2019 May 20(10)
- Next-generation sequencing and its application in diagnosis of retinitis pigmentosa.
Salmaninejad Arash et al. Ophthalmic genetics 2019 Oct 40(5) 393-402
- A nation-wide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC).
Sharon Dror et al. Human mutation 2019 Aug
- Inherited retinal disease in Norway - a characterization of current clinical and genetic knowledge.
Holtan Josephine Prener et al. Acta ophthalmologica 2019 Aug
- Genetic Screening of the Usher Syndrome in Cuba.
Santana Elayne E et al. Frontiers in genetics 2019 10501
- Genetic testing in patients with retinitis pigmentosa: features of unsolved cases.
Birtel Johannes et al. Clinical & experimental ophthalmology 2019 Apr
- The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies.
Abu Diab Alaa et al. Acta ophthalmologica 2019 Mar
- The location of exon 4 mutations in RP1 raises challenges for genetic counselling and gene therapy.
Nanda A et al. American journal of ophthalmology 2019 Feb
- Genetics of Usher Syndrome: New Insights From a Meta-analysis.
Jouret Guillaume et al. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2019 Jan 40(1) 121-129
- Clinical and imaging characteristics of posterior column ataxia with retinitis pigmentosa with a specific FLVCR1 mutation.
Lee Jennifer et al. Ophthalmic genetics 2018 Nov 1-6
- Genetic screening of Russian Usher syndrome patients toward selection for gene therapy.
Ivanova Marianna E et al. Ophthalmic genetics 2018 Oct 1-8
- Relative frequency of inherited retinal dystrophies in Brazil.
Motta Fabiana Louise et al. Scientific reports 2018 Oct 8(1) 15939
- Development of High-Throughput Clinical Testing of RPGR ORF15 Using a Large Inherited Retinal Dystrophy Cohort.
Chiang John P W et al. Investigative ophthalmology & visual science 2018 Sep 59(11) 4434-4440
- Researchers find potential new gene therapy for blinding disease
NIH News, August 20, 2018
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.