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  • Haggenmüller et al. evaluate the performance of a smartphone app for non-invasive hemoglobin estimation that was developed in the USA in rural India. Performance improved when the app was retrained on the data collected in India.

    • Verena Haggenmüller
    • Lisa Bogler
    • Sebastian Vollmer
    Article Open Access
  • Today is Global Recycling Day. All medical practices and disciplines face sustainability issues and there is a huge focus in the UK on minimising the environmental effects of medicine. Here we speak to Dr Daniel Lake about ‘Project Greener Anaesthesia’, which aims to do just that for Anaesthetics.

    Q&A Open Access
  • Thomas et al. test 6 ELISAs detecting IgA and IgG antibodies to whole SARS-CoV-2 spike protein, to its receptor binding domain region and to nucleocapsid protein in saliva. Across 20 household outbreaks, antibody responses are heterogeneous, but a reliable indicator of recent infection.

    • Amy C. Thomas
    • Elizabeth Oliver
    • Jonathan Vowles
    Article Open Access
  • Griffith et al. report COVID-19 symptom persistence in a national population-based cohort over 50 years old in Canada. These data allow the authors to estimate the background symptom prevalence in the cohort, given not everyone had COVID-19, but also to explore a broader range of pre-pandemic risk factors for post-acute COVID-19 symptom persistence.

    • Lauren E. Griffith
    • Marla Beauchamp
    • Theodore Cosco
    Article Open Access
  • 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.

    Q&A Open Access
  • 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.

    Q&A Open Access
  • 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.

    Q&A Open Access
  • 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.

    Q&A Open Access
  • 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.

    • Allen J. Chang
    • Rebecca Roth
    • Leonardo Bonilha
    Article Open Access
  • Wang, Liang, Huang et al. evaluate associations between mitochondrial DNA copy number (mtDNA-CN) and HbA1c and weight loss in patients with type 2 diabetes treated with metformin or acarbose, as part of the MARCH study. They find that patients with higher mtDNA-CN lost more weight on metformin, but did not see the same with acarbose.

    • Jing Wang
    • Hua Liang
    • Kaixin Zhou
    Article Open Access
  • Nuzzo, Russo, Errico, D’Amico et al. investigate neuroinflammation in forty-eight pediatric spinal muscular atrophy patients before and after Nusinersen treatment. They find signatures of neuroinflammation that are specifically associated with severe disease and show that Nusinersen therapy has neuro-immunomodulatory effects.

    • Tommaso Nuzzo
    • Rosita Russo
    • Alessandro Usiello
    Article Open Access
  • Vaid et al performed a multi-center retrospective cohort study using electrocardiograms from patients with mitral regurgitation to train a deep learning model to detect valvular disease and validated it in externally. They demonstrate the model could potentially enable earlier disease detection and improve overall prognosis.

    • Akhil Vaid
    • Edgar Argulian
    • Benjamin S. Glicksberg
    Article Open Access
  • Klein et al. use mobility data to forecast COVID-19 admissions for five Massachusetts hospitals. Combining aggregated mobile device data about users’ contact patterns, commuting volume, and mobility range with COVID hospitalizations and test-positivity data increases the lead-time of accurate predictions for individual hospitals.

    • Brennan Klein
    • Ana C. Zenteno
    • Hojjat Salmasian
    Article Open Access
  • Tang, Liang, Shen, et al. assessed whether the use of a health management app by people with Parkinson’s disease before and after a COVID-19 lockdown in China had an impact on their quality of life (QoL). They show that these social distancing measures reduced the QoL overall, but the reduction was less pronounced if adherence to the app was high.

    • Yilin Tang
    • Xiaoniu Liang
    • Jian Wang
    Article Open Access
  • Bäck et al. describe a motion tracking algorithm to measure the flow rate through the mitral valve (MV) and the left atrial appendage (LAA) from 4D-CT data. The developed algorithm provided accurate tracking of dynamic cardiac geometries resulting in similar flow rates at the MV and LAA to those measured by 4D flow MRI.

    • Sophia Bäck
    • Lilian Henriksson
    • Tino Ebbers
    Article Open Access
  • Vetter et al. evaluate cross-sectional and longitudinal associations between DNA methylation age acceleration and type 2 diabetes and its complications in older adults. Although epigenetic aging does not associate with a diagnosis of diabetes, 7-CpG-based estimates are associated with increased risk of developing complications.

    • Valentin Max Vetter
    • Johanne Spieker
    • Ilja Demuth
    Article Open Access