Last Posted: Mar 10, 2022
- A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.
González-Del Pozo María et al. NPJ genomic medicine 2022 7(1) 17
- Clinical Observation and Genotype-Phenotype analysis of ABCA4- related Hereditary retinal degeneration before Gene Therapy.
Xiao Xuan et al. Current gene therapy 2022
- Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review.
Sallum Juliana M F et al. Advances in therapy 2022
- Prime Editing for Inherited Retinal Diseases.
da Costa Bruna Lopes et al. Frontiers in genome editing 2021 3775330
- Acupuncture for retinitis pigmentosa: study protocol for a randomised, sham-controlled trial.
Huang Hui et al. BMJ open 2021 11(11) e049245
- Auditory and olfactory findings in patients with USH2A-related retinal degeneration-Findings at baseline from the rate of progression in USH2A-related retinal degeneration natural history study (RUSH2A).
Iannaccone Alessandro et al. American journal of medical genetics. Part A 2021
- Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy.
Aoun Manar et al. International journal of molecular sciences 2021 22(13)
- Consanguinity-based analysis of exome sequencing yields likely genetic causes in patients with inherited retinal dystrophy.
Shen Ren-Juan et al. Orphanet journal of rare diseases 2021 16(1) 278
- Partial recovery of visual function in a blind patient after optogenetic therapy
JA Sahel et al, Nature Medicine, May 24, 2021
- Molecular Genetics of Inherited Retinal Degenerations in Icelandic patients.
Thorsteinsson Daniel A et al. Clinical genetics 2021
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
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
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.