• Another tale of structural inequality?

      de Noronha, Nigel; email: nigel.denoronha@manchester.ac.uk (Blackwell Publishing Ltd, 2021-05-21)
    • Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects

      Pagnamenta, Alistair T.; orcid: 0000-0001-7334-0602; Jackson, Adam; Perveen, Rahat; Beaman, Glenda; Petts, Gemma; Gupta, Asheeta; Hyder, Zerin; Chung, Brian Hon‐Yin; orcid: 0000-0002-7044-5916; Kan, Anita Sik‐Yau; Cheung, Ka Wang; et al. (Blackwell Publishing Ltd, 2021-10-11)
      Abstract: Only two families have been reported with biallelic TMEM260 variants segregating with structural heart defects and renal anomalies syndrome (SHDRA). With a combination of genome, exome sequencing and RNA studies, we identified eight individuals from five families with biallelic TMEM260 variants. Variants included one multi‐exon deletion, four nonsense/frameshifts, two splicing changes and one missense change. Together with the published cases, analysis of clinical data revealed ventricular septal defects (12/12), mostly secondary to truncus arteriosus (10/12), elevated creatinine levels (6/12), horse‐shoe kidneys (1/12) and renal cysts (1/12) in patients. Three pregnancies were terminated on detection of severe congenital anomalies. Six patients died between the ages of 6 weeks and 5 years. Using a range of stringencies, carrier frequency for SHDRA was estimated at 0.0007–0.007 across ancestries. In conclusion, this study confirms the genetic basis of SHDRA, expands its known mutational spectrum and clarifies its clinical features. We demonstrate that SHDRA is a severe condition associated with substantial mortality in early childhood and characterised by congenital cardiac malformations with a variable renal phenotype.
    • English Devolution and the Covid‐19 Pandemic: Governing Dilemmas in the Shadow of the Treasury

      Warner, Sam; email: samuel.warner@manchester.ac.uk; Richards, David; Coyle, Diane; Smith, Martin J. (Blackwell Publishing Ltd, 2021-04-08)
      Abstract: This article explores the question of devolution in the light of the Covid‐19 pandemic's impact on English local government. Criticism of the government's handling of the crisis is widespread and tends to focus on the highly centralised nature of the British state. Here, we attribute the challenges faced by regional and local government in responding to the pandemic primarily to the asymmetric nature of power relations that characterise financial planning and control mechanisms, devised and overseen by the Treasury. We argue that the ongoing crisis underlines the need for a democratic form of devolution—including further fiscal powers for regional and local government—to support the economic recovery. In a context of increasing fiscal uncertainty, the Treasury should seek to unlock the existing powers of local leaders by reforming centralised budgetary constraints and taking accountability and monitoring mechanisms closer to citizens.
    • Introduction: Corbynism and its Aftermath

      Bassett, Lewis; email: lewis.bassett-yerrell@manchester.ac.uk; Gilbert, Jeremy (Blackwell Publishing Ltd, 2021-05-18)
    • “Success” in policy piloting: Process, programs, and politics

      Checkland, Kath; orcid: 0000-0002-9961-5317; email: katherine.checkland@manchester.ac.uk; Hammond, Jonathan; Coleman, Anna; Macinnes, Julie; Mikelyte, Rasa; Croke, Sarah; Billings, Jenny; Bailey, Simon; orcid: 0000-0001-9142-2791; Allen, Pauline (Blackwell Publishing Ltd, 2021-10-25)
      Abstract: Research has demonstrated that pilots contain multiple shifting purposes, not all of which relate to simple policy testing or refinement. Judging the success of policy pilots is therefore complex, requiring more than a simple judgment against declared goals. Marsh and McConnell provide a framework against which policy success can be judged, distinguishing program success from process and political success. We adapt Boven's modification of this framework and apply it to policy pilots, arguing that pilot process, outcomes and longer‐term effects can all be judged in both program and political terms. We test this new framework in a pilot program in the English National Health Service, the Vanguard program, showing how consideration of these different aspects of success sheds light on the program and its aftermath. We consider the implications of the framework for the comprehensive and multifaceted evaluation of policy pilots.