Roederer et al. estimate uptake of COVID-19 vaccines amongst migrants, homeless and precariously housed people in two regions of France with cross-sectional survey data. They also report sociodemographic factors and reasons associated with (non-)vaccination.

Chou et al. develop a machine learning algorithm for the automated determination of cardiothoracic ratio (CTR). Both baseline CTRs and trajectories of serial CTR measurements are associated with end-stage renal disease and mortality in patients with chronic kidney disease.

Armstrong et al. describe how rates of obesity and hypertension differ across three sub-populations of Brazil, including two under-studied Indigenous groups. The more urbanized cultures experience more obesity and hypertension, suggesting urbanization impacts cardiovascular health.

Leinonen et al. investigate correlations between testosterone levels and disease using genetic and health registry data from the UK Biobank and FinnGen. There is a lack of evidence for normal variation in testosterone levels having a causal contribution to most non-sex-specific traits.

Srinath, Xie et al. analyze plasma metabolites present in patients with cerebral cavernous angiomas. Cholic acid and hypoxanthine are found in those with Cavernous Angioma disease whilst arachidonic and linoleic acids are found in Cavernous Angioma patients with symptomatic hemorrhage.

Professor Bobby Gaspar is a distinguished physician-scientist who is a thought leader in translating basic research from bench-to-bedside and strategic work that facilitated bringing life-saving therapies to patients with rare diseases. He has over 30 years of experience in pediatric medicine working in the NHS and the biotechnology sector, and is the founding member of Orchard Therapeutics, where he serves as Chief Executive Officer. In this Q&A, Professor Gaspar provides insight into the regulatory approval and policy considerations for bringing novel therapies for rare diseases from discovery through to clinical application.

Annemieke Aartsma-Rus is a Professor of Translational Genetics at the Leiden University Medical Center. She was one of the pioneers of antisense oligonucleotide (ASO)-mediated exon skipping therapy for Duchenne muscular dystrophy (DMD). Her work focuses on the personalized approach to delivering exon skipping therapy for patients with rare genetic diseases within the setting of the Dutch Center for RNA Therapeutics, which she co-founded in 2020 and is on the Board of Directors. Currently, four exon skipping drugs have been approved by the US Food and Drug Administration for DMD, three of which are based on the IP generated by Aartsma-Rus’ institute. She is also involved in patient education in collaboration with the Duchenne Patient Academy and the European Organisation for Rare Diseases (Eurordis). In this Q&A, we ask Prof. Aartsma-Rus a series of questions on the latest developments in therapies for rare diseases and how best to overcome some of the existing challenges with this endeavour.

Megan O’Boyle is the parent of a 22-year-old daughter with a rare neurodevelopmental disease. She is currently the Patient Engagement Lead of the RARE-X Data Collection Program at Global Genes, a collaborative platform for global data sharing and analysis created to accelerate treatments for rare diseases. In this Q&A, we ask Megan a series of questions on patient engagement and involvement in rare disease research.

Dr. Stephen Kingsmore is President/CEO of Rady Children’s Hospital. His career as a physician-scientist has covered the implementation of genomic medicine approaches for rare genetic disorders. This has furthered the field of genomic medicine, in which genomic information about an individual is used as part of their clinical care to facilitate diagnosis or improve treatment. In this Q&A, we ask Dr. Kingsmore a series of questions about the challenges in diagnosing rare diseases and how diagnosis could be improved in the future.

Chang et al. classify people with Temporal Lobe Epilepsy (TLE), Alzheimer’s disease and healthy controls using a convolutional neural network algorithm applied to magnetic resonance imaging (MRI) scans. People with TLE can be distinguished, including those without easily identifiable TLE-associated MRI features.

Hirotsu, Kakizaki et al. assess the presence of pneumonia and pathogenesis during infection with different SARS-CoV-2 variants. The prevalence of pneumonia differs depending on the infectious variant, with the lowest prevalence and mild lung pathogenesis following infection with BA.2.

Nyblom, Johnning et al. develop an optical DNA mapping approach for bacterial strain typing of patient samples. They demonstrate rapid identification of clinically relevant E. coli and K. pneumoniae strains, without the need for cultivation.

Roederer et al. estimate uptake of COVID-19 vaccines amongst migrants, homeless and precariously housed people in two regions of France with cross-sectional survey data. They also report sociodemographic factors and reasons associated with (non-)vaccination.