SPOT: A strategic life-cycle-assessment-based methodology and tool for cosmetic product eco-design

ABSTRACT: The cosmetics industry is facing growing pressure to offer more sustainable products, which can be tackled by applying eco-design. This article aims to present the Sustainable Product Optimization Tool (SPOT) methodology developed by L’Oréal to eco-design its cosmetic products and the strategies adopted for its implementation while presenting the challenges encountered along the way. The SPOT methodology is based on the life cycle assessment (LCA) of a finished product and its subsystems (formula, packaging, manufacturing and distribution). Several environmental indicators are assessed, normalized and weighted based on the planetary boundaries concept, and then aggregated into a single footprint. A product sustainability index (a single rating, easy to interpret) is then obtained by merging the environmental product rating derived from the single environmental footprint with the social rating (not covered here). The use of the SPOT method is shown by two case studies. The implementation of SPOT, based on specific strategic and managerial measures (corporate and brand targets, Key Performance Indicators, and financial incentives) is discussed. These measures have enabled L’Oréal to have 97% of their products stated as eco-designed in 2022. SPOT shows how eco-design can be implemented on a large scale without compromising scientific robustness. Eco-design tools must strike the right balance between the complexity of the LCA and the ease of interpretation of the results, and have a robust implementation plan to ensure a successful eco-design strategy

Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination

Abstract Chromoanagenesis is a cellular mechanism that leads to complex chromosomal rearrangements (CCR) during a single catastrophic event. It may result in loss and/or gain of genetic material and may be responsible for various phenotypes. These rearrangements are usually sporadic. However, some familial cases have been reported. Here, we studied six families in whom an asymptomatic or paucisymptomatic parent transmitted a CCR to its offspring in an unbalanced manner. The rearrangements were characterized by karyotyping, fluorescent in situ hybridization, chromosomal microarray (CMA) and/or whole genome sequencing (WGS) in the carrier parents and offspring. We then hypothesized meiosis‐pairing figures between normal and abnormal parental chromosomes that may have led to the formation of new unbalanced rearrangements through meiotic recombination. Our work indicates that chromoanagenesis might be associated with a normal phenotype and normal fertility, even in males, and that WGS may be the only way to identify these events when there is no imbalance. Subsequently, the CCR can be transmitted to the next generation in an unbalanced and unpredictable manner following meiotic recombination. Thereby, prenatal diagnosis using CMA should be proposed to these families to detect any pathogenic imbalances in the offspring

Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts

International audienceBackgroundSystemic lupus erythematosus (SLE) is a rare immunological disorder and genetic factors are considered important in its causation. Monogenic lupus has been associated with around 30 genotypes in humans and 60 in mice, while genome-wide association studies have identified more than 90 risk loci. We aimed to analyse the contribution of rare and predicted pathogenic gene variants in a population of unselected cases of childhood-onset SLE.MethodsFor this genetic panel analysis we designed a next-generation sequencing panel comprising 147 genes, including all known lupus-causing genes in humans, and potentially lupus-causing genes identified through GWAS and animal models. We screened 117 probands fulfilling American College of Rheumatology (ACR) criteria for SLE, ascertained through British and French cohorts of childhood-onset SLE, and compared these data with those of 791 ethnically matched controls from the 1000 Genomes Project and 574 controls from the FREX Consortium.FindingsAfter filtering, mendelian genotypes were confirmed in eight probands, involving variants in C1QA, C1QC, C2, DNASE1L3, and IKZF1. Seven additional patients carried heterozygous variants in complement or type I interferon-associated autosomal recessive genes, with decreased concentrations of the encoded proteins C3 and C9 recorded in two patients. Rare variants that were predicted to be damaging were significantly enriched in the childhood-onset SLE cohort compared with controls; 25% of SLE probands versus 5% of controls were identified to harbour at least one rare, predicted damaging variant (p=2·98 × 10 −11). Inborn errors of immunity were estimated to account for 7% of cases of childhood-onset SLE, with defects in innate immunity representing the main monogenic contribution.InterpretationAn accumulation of rare variants that are predicted to be damaging in SLE-associated genes might contribute to disease expression and clinical heterogeneity