Publications by authors named "K P Jayasundera"
Importance: The association of race and detection of pathogenic variants using wide-panel genetic testing for inherited retinal diseases (IRD), to our knowledge, has not been studied previously.
Objective: To investigate the genetic detection rates of wide-panel testing in Black and non-Hispanic White patients with IRDs.
Design, Setting, Participants: This 2-group comparison used retrospective patient data that were collected at the University of Michigan (UM) and Blueprint Genetics (BG).
Article Synopsis
- Natural products, particularly isoprenoids, are used in various industries such as medicine, cosmetics, and biofuels, leading to a growing interest in microbial production methods.
- Advances in metabolic engineering through synthetic and systems biology have facilitated the modification of microorganisms to enhance isoprenoid yield by targeting biosynthetic pathways like the MEP and MVA.
- New combinations of the MVA pathway have shown improved carotenoid and lycopene production, making them promising for efficient industrial isoprenoid production while complying with safety regulations.
Article Synopsis
- The study aimed to assess self-reported functional vision and the effects of vision loss in patients with USH2A-associated retinal degeneration using the Michigan Retinal Degeneration Questionnaire (MRDQ).
- It involved 93 participants, with 55 having Usher Syndrome Type 2 (USH2) and 38 having autosomal recessive retinitis pigmentosa (ARRP), all linked to USH2A gene variants.
- Results showed that MRDQ scores were sensitive to differences based on clinical diagnosis and other factors, and they correlated well with established visual function tests, highlighting the tool's effectiveness in evaluating vision-related functioning.
Article Synopsis
- The study focuses on EDIT-101, a CRISPR-based gene-editing treatment aimed at inherited retinal degeneration originating from a specific harmful genetic variant.
- Conducted on individuals aged 3 and older, the phase 1-2 trial administered different dosages of EDIT-101 via subretinal injection to assess safety and efficacy, with a primary focus on adverse events and secondary outcomes related to visual acuity and quality of life.
- Results indicated that no serious side effects were linked to the treatment, with notable vision improvements observed in 64% of participants, suggesting potential benefits of the gene-editing approach for those with this form of retinal degeneration.
Autoantibodies Against Bestrophin in Non-Paraneoplastic Acute Exudative Polymorphous Vitelliform Maculopathy.
Ophthalmic Surg Lasers Imaging Retina
January 2024
Acute exudative polymorphous vitelliform maculopathy (AEPVM) has recently been identified as a paraneoplastic manifestation of various cancers. Yet, the first reported cases of AEPVM in the literature were reported in seemingly healthy individuals. It is not clear whether those individuals harbored unidentified mutations or occult cancers, or truly represented a separate subset of AEPVM.
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