Achromatopsia linked to variations in the CNGA3 gene is associated with day blindness, poor visual acuity, photophobia, and involuntary eye movements owing to lack of cone photoreceptor function. No treatment is currently available. OBJECTIVE To assess safety and vision outcomes of supplemental gene therapy with adeno-associated virus (AAV) encoding CNGA3 (AAV8.CNGA3) in patients with CNGA3-linked achromatopsia. DESIGN, SETTING, AND PARTICIPANTS This open-label, exploratory nonrandomized controlled trial tested safety and vision outcomes of gene therapy vector AAV8.CNGA3 administered by subretinal injection at a single center. Nine patients (3 per dose group) with a clinical diagnosis of achromatopsia and confirmed biallelic disease-linked variants in CNGA3 were

Knowledge on bacterial correlations can pave the way for new treatment options focusing on restoring the shifted balance.

Biomolecules, such as the productive and protective pigments of photosynthetic organisms, are good biomarkers in extreme Antarctic deserts as analogues of early Mars. Laser Raman technology at long wavelengths which minimize fluorescence is ideal for remote analysis of biomolecules in situ. We report Raman spectra obtained with a prototype miniature laser‐Raman spectrometer/confocal microscope (specification < 1 kg) under development for a Mars lander and evaluation in Antarctic deserts. We compare the efficiency of its 852 nm laser/CCD detector system with an optimal bench‐top 1064 nm FT Raman spectrometer which excels with biomolecules. Using a yellow Antarctic lichen, Acarospora chlorophana, we show good correlation between both instruments restricted to the 460–1350 cm−1 wavenumber range. Copyright © 2000 John Wiley & Sons, Ltd.

Palatogenesis requires a precise spatiotemporal regulation of gene expression, which is controlled by an intricate network of transcription factors and their corresponding DNA motifs. Even minor perturbations of this network may cause cleft palate, the most common congenital craniofacial defect in humans. MicroRNAs (miRNAs), a class of small regulatory non-coding RNAs, have elicited strong interest as key regulators of embryological development, and as etiological factors in disease. MiRNAs function as post-transcriptional repressors of gene expression and are therefore able to fine-tune gene regulatory networks. Several miRNAs are already identified to be involved in congenital diseases. Recent evidence from research in zebrafish and mice indicates that miRNAs are key factors in both normal palatogenesis and cleft palate formation. Here, we provide an overview of recently identified molecular mechanisms underlying palatogenesis involving specific miRNAs, and discuss how dysregulation of these miRNAs may result in cleft palate.

A long-length fiber-optic remote Raman probe that can detect materials (e.g., Fe(2)O(3)) that are weak Raman scatterers is described. The 100-m-long probe consists of one excitation and one collection fiber and accessory optics and is <3 mm in diameter. We used special filters to solve the problems of Raman scattering and luminescence generated in the silica excitation and collection fibers and a liquid-nitrogencooled charge-coupled detector to analyze weak Raman signals.