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Between 2005 and 2020, total contraceptive use among married women in Rwanda increased from 17% to 64%. The aim of this study is to better understand how the Rwandan government's mobilization and demand generation efforts have impacted community norms and interpersonal discourse surrounding family planning. Eight focus group discussions with family planning providers and 32 in-depth interviews with experienced modern contraceptive users were conducted in 2018 in the two Rwandan districts with the highest and the lowest contraceptive prevalence rates. Results suggest that outspoken government support, mass media, and community meetings were valuable sources of information about family planning. Information received through these channels generated interpersonal dialogue about contraceptives through both conversation and observation; however, rumors and misinformation remained a significant barrier to use. A once taboo subject is now normative among married couples. Continuing to address common fears and misinformation through communication channels such as mass media and community meetings may help to further increase contraceptive uptake in Rwanda.

Use of modern contraception in Rwanda has risen dramatically over a short time period. To better understand contraceptive users' motivations for family planning services in Rwanda, 32 in-depth interviews with contraceptive users and eight focus groups with 88 family planning providers were conducted in Rwanda's Musanze and Nyamasheke districts. Study participants noted how family planning is critical for providing a better life for children. Family planning gives mothers independence from childcare to work in order to provide for their children's wellbeing. Family planning presented an opportunity for generational upward mobility and was perceived as a way to contribute positively to society.

Hirschsprung disease (HSCR, OMIM 142623) involves congenital intestinal obstruction caused by dysfunction of neural crest cells and their progeny during enteric nervous system (ENS) development. HSCR is a multifactorial disorder; pathogenetic variants accounting for disease phenotype are identified only in a minority of cases, and the identification of novel disease-relevant genes remains challenging. In order to identify and to validate a potential disease-causing relevance of novel HSCR candidate genes, we established a complementary study approach, combining whole exome sequencing (WES) with transcriptome analysis of murine embryonic ENS-related tissues, literature and database searches, in silico network analyses, and functional readouts using candidate gene-specific genome-edited cell clones. WES datasets of two patients with HSCR and their non-affected parents were analysed, and four novel HSCR candidate genes could be identified: ATP7A, SREBF1, ABCD1 and PIAS2. Further rare variants in these genes were identified in additional HSCR patients, suggesting disease relevance. Transcriptomics revealed that these genes are expressed in embryonic and fetal gastrointestinal tissues. Knockout of these genes in neuronal cells demonstrated impaired cell differentiation, proliferation and/or survival. Our approach identified and validated candidate HSCR genes and provided further insight into the underlying pathomechanisms of HSCR.