The Iowa Homemaker vol.41, no.5

Letter to the Editor, page 5 What Do YOU Know About the World Situation?, page 5 Foods from Faculty Files, Diane Sharbo, page 6 Creating the Air of Christmas, Ann Sindt, page 8 Study Buddies, Barb Strang, page 9 Mat, Motifs, Mailboxes, Made of Felt, Sharon Sherman, page 10 Are Co-ops for ISU?, Judy Godden, page 11 Home Economics Council Claims National Officer, Mary Ellen Muckenhirn, page 12 Hear Now the Bells, Sweet, Silver Bells, Marsha Barron, page 13 Gay Gifts Inside and Out, Jan Wheeler, page 14 Phi Upsilon Omicron, Joy Reese, page 16 Alii Nui Provides Last-Minute Gift Idea, Anne Collison, page 17 Poems, Jan Wheeler, page 1

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Inherited retinal disease is a common cause of visual impairment and represents a highly heterogeneous group of conditions. Here, we present findings from a cohort of 722 individuals with inherited retinal disease, who have had whole-genome sequencing (n = 605), whole-exome sequencing (n = 72), or both (n = 45) performed, as part of the NIHR-BioResource Rare Diseases research study. We identified pathogenic variants (single-nucleotide variants, indels, or structural variants) for 404/722 (56%) individuals. Whole-genome sequencing gives unprecedented power to detect three categories of pathogenic variants in particular: structural variants, variants in GC-rich regions, which have significantly improved coverage compared to whole-exome sequencing, and variants in non-coding regulatory regions. In addition to previously reported pathogenic regulatory variants, we have identified a previously unreported pathogenic intronic variant in $\textit{CHM}$ in two males with choroideremia. We have also identified 19 genes not previously known to be associated with inherited retinal disease, which harbor biallelic predicted protein-truncating variants in unsolved cases. Whole-genome sequencing is an increasingly important comprehensive method with which to investigate the genetic causes of inherited retinal disease.This work was supported by The National Institute for Health Research England (NIHR) for the NIHR BioResource – Rare Diseases project (grant number RG65966). The Moorfields Eye Hospital cohort of patients and clinical and imaging data were ascertained and collected with the support of grants from the National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital, National Health Service Foundation Trust, and UCL Institute of Ophthalmology, Moorfields Eye Hospital Special Trustees, Moorfields Eye Charity, the Foundation Fighting Blindness (USA), and Retinitis Pigmentosa Fighting Blindness. M.M. is a recipient of an FFB Career Development Award. E.M. is supported by UCLH/UCL NIHR Biomedical Research Centre. F.L.R. and D.G. are supported by Cambridge NIHR Biomedical Research Centre

Morality and Work–Family Conflict in the Lives of Poor and Low-Income Women

Contemporary understandings of work and family are largely based on middle-class women\u27s experience, whereas poverty and welfare researchers focus on the economic struggles of single female-headed families. This qualitative study examines the cultural and moral forces underlying the tension between paid work and family responsibilities through the experience of poor and low-income women. Interview data reveal that as expected, the conditions of poverty and welfare shape work and family decisions. Yet, choices about work and family entail moral and emotional commitments defined through powerful gendered cultural schemas. Providing financially for children reflects a strong work ethic and moral worth corresponding to a masculine model of individual responsibility privileging self-sufficiency and independence. This is challenged by a shared moral imperative that mother\u27s primary responsibility is the care of children. This examination is important for researchers in understanding the moral and emotional salience of gender in shaping the work and family lives of poor and low-income women