Cohort Profile Update : The Haematological Malignancy Research Network (HMRN)’s UK population-based cohorts

Established in 2004, the Haematological Malignancy Research Network is an ongoing population-based UK cohort that is currently tracking 38 000 people diagnosed with a blood cancer or related disorder. Covering a population of ∼4 million people (14 hospitals), each year ∼2500 people enter the cohort (irrespective of age or prognosis) on the day they are diagnosed. All diagnoses are made and coded using the World Health Organization’s latest International Diseases for Oncology classification by haematopathologists at a single fully integrated laboratory. HMRN operates on a legal basis that permits all patients to be tracked through local clinical systems and linked to national administrative databases (hospital episode statistics, cancers and deaths). Patients diagnosed between 2009 and 2015 (n = 18 127) have now been matched (year of birth, sex and residency in the study area) to 10 randomly selected controls from the national population-based National Health Service Central Register. The pseudonymized comparison cohort described in this update was designed to facilitate analyses requiring general-population background rates on co-morbidities and healthcare activity

Genetic epilepsy with febrile seizures plus: definite and borderline phenotypes

Generalised epilepsy with febrile seizures plus (GEFS+) is the most studied familial epilepsy syndrome. However, characteristics of UK families have not previously been reported. Among the first 80 families recruited to our families study, four broad subphenotypes were identified: families with classical GEFS+; families with borderline GEFS+; families with unclassified epilepsy; and families with an alternative syndromal diagnosis. Borderline GEFS+ families shared many characteristics of classical GEFS+ families—such as prominent febrile seizures plus and early onset febrile seizures—but included more adults with focal epilepsies (rather than the idiopathic generalised epilepsies predominating in GEFS+) and double the prevalence of migraine. Thus the authors believe that a novel and robust familial epilepsy phenotype has been identified. Subcategorising families with epilepsy is helpful in targeting both clinical and research resources. Most families with GEFS+ have no identified causal mutation, and so predicting genetic homogeneity by identifying endophenotypes becomes more important

"Arabic is the language of the Muslims–that's how it was supposed to be": exploring language and religious identity through reflective accounts from young British-born South Asians

This study explores how a group of young British-born South Asians understood and defined their religious and linguistic identities, focusing upon the role played by heritage languages and liturgical languages and by religious socialisation. Twelve British-born South Asians were interviewed using a semi-structured interview schedule. Interview transcripts were subjected to interpretative phenomenological analysis. Four superordinate themes are reported. These addressed participants' meaning-making regarding "the sanctification of language" and the consequential suitability of "the liturgical language as a symbol of religious community"; the themes of "ethnic pride versus religious identity" and "linguistic Otherness and religious alienation" concerned potential ethno-linguistic barriers to a positive religious identity. Findings are interpreted in terms of concepts drawn from relevant identity theories and tentative recommendations are offered concerning the facilitation of positive religious and ethnic identities

Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

Erythropoietin stimulation agents significantly improves outcome in lower risk MDS

The EUMDS Registry started in 2008 as a prospective, non-interventional longitudinal study, enrolling newly diagnosed patients with IPSS low or intermediate-1 MDS from 16 European countries and Israel

More policies, greater inclusion? Exploring the contradictions of New Labour inclusive education policy

The era of New Labour government has witnessed unprecedented growth in inclusive education policies. There is, however, limited evidence that policies have increased disabled children’s inclusion. This article explores reasons for this contradiction. Drawing on sociological insights, it is argued that New Labour policies on inclusive education take their cues from wider neo-liberal constructions of social exclusion; ideas that point to the personal deficits of the excluded rather than social barriers and inequalities that systematically exclude. Increasingly narrow definitions of educational success are likely to add to this exclusion. This mirrors New Labour’s broader social inclusion agenda in emphasising ‘conditional’ inclusion and an increasingly utilitarian approach to social policy. New Labour, it is argued, needs to review the lessons of history in reducing disabled children’s educational exclusion if real progress is to be made. Warnock’s recent attack on the principle of inclusive education makes this review all the more urgent

The DNA sequence of the human X chromosome

The human X chromosome has a unique biology that was shaped by its evolution as the sex chromosome shared by males and females. We have determined 99.3% of the euchromatic sequence of the X chromosome. Our analysis illustrates the autosomal origin of the mammalian sex chromosomes, the stepwise process that led to the progressive loss of recombination between X and Y, and the extent of subsequent degradation of the Y chromosome. LINE1 repeat elements cover one-third of the X chromosome, with a distribution that is consistent with their proposed role as way stations in the process of X-chromosome inactivation. We found 1,098 genes in the sequence, of which 99 encode proteins expressed in testis and in various tumour types. A disproportionately high number of mendelian diseases are documented for the X chromosome. Of this number, 168 have been explained by mutations in 113 X-linked genes, which in many cases were characterized with the aid of the DNA sequence