ISSN 1359-9321 The Galton Institute

NEWSLETTER

Galtonia candicans Issue Number 83 Winter 2014 - 2015 Contents

audience that it was indeed Galton Galton Institute

himself who in 1889 introduced the Conference 2014 1 Galton Institute concept of regression to the mediocri- British Society for Population Conference 2014 ty (mean) to become the core of S t u d i e s C o n f e r e n c e 2 0 1 4 7 regression analysis, and also the idea of polygenic inheritance and mathe- B o o k R e v i e w 9 in matical relationship between genotype From DNA to Social Minds 10 Held 4 November, 2014 at the Royal and phenotype. Galton used the

Society in London example of height, and the genetic European Human advances to date have clearly demon- Behaviour and Evolution strated that over 180 genetic variants Conference 2014 11 are involved in the genetic makeup of Canadian Conference This year’s Galton Institute Annual human height. Conference was dedicated to Genetics o n E p i g e n e t i c s 1 1

in Medicine and covered diverse Integrating the Genome topics, such as genetic testing and with the Phenome 12 therapy, as well as the applica- tion of cutting-edge genomic technolo- Genetics, Genomics and gies to cancer and metabolic diseases. Global Health 13

It was an inspiring overview of the Harry Stopes-Roe 14 current application of genetics in clinical care today. Tim Black 15

Anthony Smith 15 The first session, chaired by Profes- sor Dian Donnai, started with an T h e N e w A - L e v e l C u r r i c u l u m 1 5 inspirational talk from Professor Sir Teachers’ Conference 16 John Burn (Newcastle University). He is medical director and head of the Published by: Institute of Human Genetics, and lead The Galton Institute clinician for the National Health 19 Northfields Prospect Service North East. Northfields LONDON SW18 1PE In his lecture, entitled Overview of Professor Sir John Burn Genetic Medicine, Professor Burn Telephone: 020-8874 7257 succeeded in walking us through www.galtoninstitute.org.uk

Professor Burn then talked about the genetics, and its transformation and General Secretary: ‘evolution’ into human genetics, then advance in the predictive markers for Mrs Betty Nixon

clinical genetics, followed by genetic risks of developing genetic diseases. Newsletter Editor: medicine and more recently into The example of the genotype-driven Dr Geoffrey Vevers genomic medicine. He reminded the anticoagulant Warfarin dosing, where

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recently published results from a success in neonatal diabetes (NND). former President, Professor Sir randomized trial achieved successful Within NND, 45% of these diagnoses , FRS, we heard genotype-guided dosing based on 3 represent a transient form, 45% lectures by two distinguished female individual single nucleotide polymor- permanent diabetes, and 10% are due clinical researchers, Professor phisms (SNPs). to syndromic pancreatic dysplasia. Nazneen Rahman (The Institute of Cancer Research) and Professor Sadaf He envisaged the future of genetic Together with Professor Frances Farooqi (). medicine and talked about the Ashcroft’s team in Oxford, they were application of nanotechnologies to able to demonstrate that heterozy- DNA testing and presented work gous activating in the gene close to his heart; the development of KCNJ11, encoding the Kir6.2 subunit a Nanowire DNA detection chip, of the ATP-sensitive potassium applying nanowires, (metallic or (KATP) channel cause neonatal semiconducting particles) in pioneer- diabetes. They hypothesized that in ing novel assays for fast, accurate and the patients carrying these activating affordable DNA testing. These excit- , the channel could be closed ing new technological advances will by an ATP-independent mechanism ensure accessibility of genetic testing (e.g. by sulfonylureas) and insulin technologies through the world, not secretion might be restored. Indeed, restricting it to the world’s richest when sulfonylureas in tablet form countries. replaced insulin injections in these patients, they achieved far better glucose control, which also had a Professor Andrew Hattersley, lasting effect. This represents a true FRS (University of Exeter) followed personalized therapy for ~50% of the patients. This also led to change in with his lecture on Using Genetics Professor Nazneen Rahman to improve care in Diabetes, the current guidelines for diabetes presenting his research on the genet- testing for patients <6months of age. Professor Nazneen Rahman, ics of diabetes and translating it into This testing is now offered in >70 talk entitled Genetics in cancer clinical practice. countries. and treatment, presented her work in using science to make a difference Professor Hattersley discussed the for the cancer patients. implications of the fast adoption of genetic diagnostic tests, also leading She described the two types of to new gene discoveries and genetic cancer : genes carrying somatic stratification of diabetes. He de- mutation, and the cancer predisposi- scribed the move from a traditional tion genes, where germline mutations scenario, where selective late testing confer highly or moderately increased of individuals genes based on clinical risks of cancer. There are over 100 features is being replaced by an early cancer predisposition genes (CPGs), non-selective investigation, involving explaining 2-3% of cancers, and they comprehensive genetic analysis of have clear clinical utility, including multiple genes by next-generation improved diagnostics, familial cancer sequencing (NGS). This change in the prevention, and optimized tailored paradigm for genetic testing is therapies. In the UK, the National already bearing fruits as novel genetic Health Service only tests for half of discoveries further the mechanistic these genes, and access is restricted. insights into diabetes and pancreatic In 2013 a research programme, called function. Professor Andrew Hattersley, FRS Mainstream Cancer genetics (MCG) programme, generously funded by He began by talking about work In the second scientific session, the and directed by from his laboratory on gene discovery chaired by the Galton Institute Professor Rahman, was initiated to

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lay the foundations for an accessible economic benefits of Predictive cally and interventionally). genetic testing for anyone with Genetic testing in healthy individuals cancer. compared to Medical Genetic testing Historically, the first studies to in diseased individuals, and how this point to the brain regions controlling This initiative is a joint venture changing paradigm is dependent on body weight, the hypothalamus and between The Institute of Cancer successful and timely integration of the brainstem, have been performed Research, The Royal Marsden Hospi- multiple expertises to apply techno- in rodent models. Also in experi- tal, the Wellcome Trust Centre for logical advances into mainstream mental animals, it was discovered Human Genetics (Oxford) and oncology services. that fat acts as an endocrine organ, Illumina. and nutritional signals from the gut Professor Sadaf Farooqi are also transmitted in to the brain. The major aims are identification followed, presenting her talk on Professor Farooqi and Professor of the CPGs in an accredited NGS Genetics and . Starting Stephen O’Rahilly, through the testing laboratory setting, making the with a reminder that obesity seen in discovery of gene mutations in genomic medicine in cancer genetics population is largely environmentally patients with obesity, demonstrated a reality. The current gene panel tests driven, but with an underlying that , a hormone secreted by 97 genes, 260 Genome-wide associa- importance of genetic factors. Her white adipose tissue is a pivotal tion (GWAS) SNPs and 24 finger- laboratory studies the extreme regulator of energy balance in hu- printing SNPs. Professor Rahman phenotype of severe childhood onset mans. In the brain, leptin modulates took us through the sequencing and obesity in a cohort of >5,000 pa- the function of regions, involved in analytical challenges that the pro- tients, Study food reward as shown by fMRI gramme is facing and its attempts in (GOOS, www.goos.org.uk). Using the imaging of patients. These studies setting a high standard for such tractable approach of studying the illuminate the biological basis of food initiatives. The genetic interpretation extremes of body weight in humans, reward with complex behavioural of the detected genetic variants is they have been successful in assign- regulation. The commonest highly particularly complicated, and all ing roles for multiple genes in the penetrant obesity gene is MC4R, variants should be considered inno- energy homeostasis, achieving encoding the melanocortin receptor cent until proven guilty and deemed insights into mechanism of disease, 4, accounting for approximately 5% pathogenic mutation. In order to which lead to drug discovery and of the genetic mutations in GOOS. In increase the confidence of the results, benefits to patients (both diagnostic addition to their severe obesity, these the programme has generated whole patients paradoxically also have low exome sequencing data on 1000 blood pressure, disproportionate to people from the 1958 British Birth their level of obesity. Cohort, which has been made publi- cally available (www.icr.ac.uk/genetic Recently, the team was able to show -resources). Making the causal that it was indeed Leptin, which is the relationship between a genetic key link to blood pressure regulation. variant and disease is the next hurdle The gene discovery program, com- in interpreting the functional signifi- bined with data from animal models cance of a variant. Interpretation is now building a picture of the brain goals for genetic testing are to make control of energy balance, where the processes automated, evidence- these processes are regulated by based and dynamic, where variants molecules acting in several hypotha- are triaged into clear clinical manage- lamic areas, the arcuate and the ment categories. Custom-made paraventricular nuclei in particular. functional assays need to be devel- oped to study the mechanism of Recently, as part of the UK10K action for each variant found. consortium, Professor Farooqi’s team has undertaken whole exome se- Towards the end of her lecture quencing in 1000 patients from the Professor Rahman discussed the Professor Sadaf Farooqi GOOS cohort. When they analysed

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the genes with evidence for involve- the first condition to be treated using been applied, including lysosomal ment in body weight controls in gene therapy. In 1999 it was demon- storage disease, a diverse group of rodents, they discovered that nearly strated that the growth of the lym- disorders with complex systemic and all of these >60 genes carry genetic phocytes is blocked. Applied gene central nervous system pathologies, variants in obesity patients. Under- vectors introducing the gene for the where functional copies of the defec- standing the individual contribution interleukin receptor 2 gamma tive enzymes have been introduced. of each gene to the disease will be the (IL2RG) under the control of viral In the case of the X-linked adrenoleu- next challenge. Several of the genes promoters were used on the first ten kodystrophy and metachromatic investigated (SIM1, SH2B1) show leukodystrophy, haemopoetic stem very strong links between behaviour cell gene therapy with lentiviral and obesity, and these will be further vectors is used. The bone marrow investigated. cells are corrected ex vivo and re- introduced in the patient. Looking into the future, she con- cluded her talk with her plans to look Concluding his talk with an over- into the mirror extreme phenotype – view of the gene therapy translational extreme leanness in a large popula- research process, he also described tion cohort. Integrating the genetic the future direction in the field, which findings from both phenotype ex- focuses on the application of gene tremes in an integrated approach will editing technologies (Zn-finger hopefully shed more light on body proteins, TALENs, and CRISPR/Cas9 weight regulation in humans. nucleases) to repair the defective genes, carrying a promise of accurate and safe ex vivo gene manipulation.

After lunch, in a session chaired by Professor Philippa Talmud, we heard Professor Bobby Gaspar the lecture of Professor Bobby The 2014 Galton Lecture was Gaspar (Institute of Child Health, patients to be treated at Great Or- delivered by Professor Andrew University College London) entitled mond Street Hospital. Although Wilkie, FRS (), Gene therapy. initially the clinical outcome was entitled Lionel Penrose and the promising, there were side effects to paternal age effect for muta- His research focuses on gene the therapy. Four patients in France tions – sixty years on. therapy for monogenic disorders of and one in the UK developed leukae- mia. At the core of this was the the bone marrow. In 1912 Wilhelm Weinberg noted genome integration of the constructs that sporadic cases of achondroplasia near an oncogene, driven by a power- Professor Gaspar started his lecture (dwarfism) were more often seen in ful long terminal repeats (LTRs) in with the history of the gene therapy in the last-born than first-born child, the viral promoters. Work to improve paediatric diseases such as haemo- this is one of the first examples of the the vectors led to development of philia and Fanconi anemia. He then recognition of parental age in genetic novel LTR-free constructs to contain went on to explain why bone marrow disease. It was Lionel Penrose, the internal mammalian promoters and diseases represent particularly good Galton Chair at the Galton Laboratory the results encouragingly demon- targets for gene therapy, focusing on at University College London, who in strate that these are safer. The the known cell populations, which 1954 first suggested that paternal age biochemical defect in ADA SCID was could also be manipulated ex vivo. is a key factor to the phenomenon, also shown to be correctable by reintroducing the ADA gene and 42 using the example of Down syn- He discussed the development of patients treated in USA, UK and Italy drome. It is now accepted that the gene therapy for severe combined show 100% survival rate. father’s age is of pivotal significance immunodeficiency (SCID), X-linked for the development of certain SCID and Adenosine deaminase Professor Gaspar talked of other disorders such as achondroplasia. (ADA) SCID. The X-linked SCID was disorders where gene therapy has The maternal age link to cranio-

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synostosis (premature fusion of the 755, Professor Wilkie was able to interventions would facilitate com- cranial sutures) the focus of Professor demonstrate a selective advantage of plete integration of genetics in medi- Wilkie’s own research, was also first the pathogenic FGFR2 mutations. cal care. suggested by Penrose in 1938. This provided the conclusive evidence of selection mechanism behind the In her presentation of the Galton In the 1960s, working on the cranio- mutation rate, rather than a copy- Plate to Professor Wilkie, Professor synostosis condition Apert Syndrome error hypothesis, and described a Veronica van Heyningen, FRS, (AS), Eric Blank noted a paternal age selfish spermatogonial selection President of The Galton Institute, effect, maternal age effect and birth process. Similar spectrum of muta- thanked him for his elegant work and order, which seemed all to have an tions is seen somatically in specific presentation. effect upon initial investigation. Using cancers, such as testicular tumours, correlation and partial correlation where FGFR3 mutations were found. methods, the only significant factor was determined to be the paternal age Professor Sir David Weath- effect. Human spermatogenesis and erall, FRS (University of Oxford) DNA replication errors were the concluded the conference with a longstanding hypothesis behind this paper entitled Summing up: what effect. we have learned from genetics for medical care. Professor Wilkie’s own work has conclusively demonstrated that it is in fact a selfish selection that drives this He started by describing the global accumulation of mutated gene copies. rate of birth defects. A recent report, He recounted the story behind this published by the March of Dimes ground-breaking discovery in his Foundation found that an estimated study of the genetics of AS, which 7.9 million children (6% of total births occurs in 1:65,000 live births. The worldwide) are born with a birth condition almost always arises by new defect of genetic or partially genetic mutations. In 1995, he discovered the origin, and 3.3. million of these gene defective in AS, the fibroblast children die each year. Five diseases growth factor receptor 2, FGFR2. The account for 25% of this number, namely congenital heart defects, two most common mutations affect Professor Andrew Wilkie, FRS two adjacent CpG island encoding neural tube defects, Down syndrome, Ser252 and Ser253, and act in a gain Some of the work in the lab is cur- glucose-6-phosphate dehydrogenase of function mechanism by increasing rently trying to map the occurrence of (G6PD) deficiency, and the haemoglo- the binding affinity of the receptor to these mutations in testes. In conclu- bin disorders (thalassemia and sickle- its growth factor, and the downstream sion, same mutations in germ cells cell disease). This global health signalling cascades. Both FGFR2 gene cause both selfish clones and birth burden is affecting especially severely and FGFR3 gene (mutated in achon- defect, whereby the mutation which is the middle- and low-income coun- droplasia) have a >500-fold elevated beneficial to the testis is harmful to tries, altogether accounting for 93.7% rate of mutation over the background the organism. of birth defect cases. Poor maternal rate in the human genome. His health, poverty, and greater frequency laboratory confirmed the paternal Looking into the future for the next of consanguineous marriages are origin of all AS cases (147/147). Other 60 years, Professor Wilkie predicted a recognized significant risk factors. genes have also been linked to pater- comprehensive catalogue of the nal age effect, including HRAS mutations at each position in the It is difficult to document the (Costello syndrome), PTPN11 human genome, which would broaden frequency of genetic disease accurate- (Noonan syndrome), RET (Multiple our view on consequences from ly. Recently, the first comprehensive endocrine neoplasia 1 and 2). Study- human evolution and disease. Im- global study of the hemoglobinopa- ing the AS mutation levels at position proving early genetic testing and thies, causing deficiencies in structure

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or function of haemoglobin, has chromosomal disorders, prevention cancer, as well as the valuable documented the disease burden and of Rh haemolytic disease and the contribution of genetics to the epidemiology. Professor Weatherall control of metabolic disease by control of communicable disease. shared his personal experience in the neonatal screen. The outcomes of Looking into the future, he predicted inherited disorders of haemoglobin successful screening programmes that more progress should be ex- over the past nearly 50 years. The include improved management and pected towards defining the genetic development of prevention screening survival. component of common disorders by by measuring the rate of haemoglo- realizing the value of rare pheno- bin synthesis, and the relationship He recounted his work in Cyprus types and applying better phenotypic between maternal and foetal haemo- on the β-thalassemia, providing one definitions in future GWAS studies, globin made possible the prenatal of the early examples of population and continuous development of diagnosis of the disorders. Other control. Raising the population partnerships between countries to successes of early screening include awareness to the disease and its improve disease prevention and the use of amniocentesis to test for prevention by prenatal diagnosis management. used any available help, including the unexpectedly strong support and

assistance from the Greek Orthodox Church. In Sri Lanka, the efforts the Oxford-Sri Lanka North/South partnership has put their efforts into

initiating the National Thalassaemia programs for education and screen- ing, as well as building a central reference laboratory and a National Report by Elena Bochukova Thalassaemia Centre. (University of Cambridge)

In the summary of his presenta- tion, Professor Weatherall recog- nized the major progress in the The meeting was organised and control and understanding of Men- chaired by Professor Dian Donnai delian Disease, the increased (Manchester University) and Profes- knowledge of the mechanisms and Professor Sir David Weatherall, FRS sor Philippa Talmud (University potential value of biomarkers in College London)

THE GALTON INSTITUTE Conference 2015

To be held at The Royal Society on Wednesday, 11 November, 2015

The topic is MATE CHOICE and the Galton Lecturer is Professor Alan Bittles Other details will be announced on the website and in the next Newsletter

Admission free but strictly by ticket From: [email protected]

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Demography: past, present and fu- illustrate their differential environ- ture, a genealogist’s view. mental burden and highlighted the shortcomings of existing indicators British Society for The BSPS website at to track emissions. With the richest Population Studies www.bsps.org.uk has the full Confer- 2% of the world contributing 50% of ence programme (including all the the world’s GHGs, high-consumption paper abstracts) available to down- lifestyles are a root cause of high Annual Conference load as a PDF. Abstracts are also pre- GHG emissions. Larger, less dense 2014 sented separately there by strand, and automobile-dependent cities, with contact details of presenters if such as Washington, DC, and Den-

further information is required. ver, Colorado, are some of the worst

culprits in their GHG emissions. This The 2015 Conference will be at the does not imply, however, that all rich This year’s BSPS annual conference University of Leeds on 7th -9th Sep- cities are equally culpable and inher- was held at the University of Win- tember. BSPS hopes to see you there. ently unsustainable. Oslo, Copenha- chester, with attendance surpassing gen and Porto Alegre provide posi- 300 for the first time ever. The venue tive counterexamples of compact, itself was splendid, and BSPS were wealthy cities with comparatively low favoured with three days of bright Plenary 1: “Can a finite planet GHG emissions per capita. The sus- and sunny weather, always a bonus. support an urbanizing world?” - tainable level most cities ought to Over the course of the Conference, David Satterthwaite aim towards is around 2 tonnes/ 186 submitted papers were presented person/year – a level that unfortu- in 40 strand sessions, with 6 sessions In the first plenary of the confer- nately very few cities including the running simultaneously in each time ence David Satterthwaite challenged positive examples mentioned cur- slot. This year saw a particularly live- us to imagine what the ideal, sustain- rently meet. When interpreting the ly poster session, with over 50 post- able city might look like. The rapid GHG per capita indicator, Dr ers on display, attracting much com- pace of urbanization in recent years Satherthwaite stressed the im- ment and discussion. Training ses- in the developing world has indicated portance of being aware of the un- sions were offered on How to ana- that the future is irrefutably urban. derlying factors used to compute it. lyse UK Census Flow data: Wifi and On the one hand, he argued, this He emphasized the need for more Excel, and How to create and com- trend holds much promise: cities detailed statistics, such as those that pare demographic projections for have the advantage of providing distinguish between consumption- local planning & estimate the chil- compact and agglomeration econo- and production-based emissions, to dren from new housing. Additional- mies where opportunity and talent enable a thorough judgement of the ly, a PhD workshop gave graduate can be fulfilled, and resources can be environmental impact of cities. students an opportunity to present pooled to reduce risk arising from and discuss their planned disserta- natural disasters, climate change or Given that most cities across the tions with senior academics. BSPS is poverty. On the other hand, however, world currently fail to meet sustaina- very grateful to all who gave their cities as the centres of population bility standards, where might we find time and expertise to bring these spe- growth and the concentration of a positive template to guide us? cial sessions to Conference, and to all wealthy groups can often – though those who organised strands. not inevitably – be heavily polluting In the second part of his talk, Dr and more burdensome in their envi- Satterthwaite provocatively revealed ronmental impact. Two plenary sessions attracted insights on planning sustainable cit- large audiences. David Satterthwaite ies from the most unlikely of places – (International Institute for Environ- Having laid out the problem, Dr the world’s largest urban slum in ment and Development – IIED) pre- Satterthwaite’s plenary was struc- Mumbai, Dharavi. With a staggering sented on the theme of Can a finite tured in three parts. In the first part population of 400,000 within two planet support an urbanizing of the talk, he presented data on square kilometres, he argued that world? Eilidh Garrett (University of green house gases (GHG) emissions Dharavi provides several valuable St. Andrews) spoke on Historical for several cities across the world to lessons to city planners in its com-

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pact use of space, recycling-intensive genealogist’s view - talked of the popular television show, and renewable-energy focused diverse Eilidh Garrett ‘Who do you think you are?’. This economies, and high levels of commu- program has raised the profile of ge- nity participation. Through a series of Delegates were treated to an engag- nealogy, encouraging a diverse group photographs, anecdotes and local per- ing discussion on historical demogra- of amateur genealogist to begin re- spectives gained through fieldwork phy by Dr Eilidh Garrett of the Uni- searching their family tree. Dr Garrett and projects there, Dr Satterthwaite emphasised that it is this popularity versity of St Andrews who started her spoke with an intimate familiarity of talk by acknowledging the wide array which has prompted organisations to the ways in which Dharavi is pioneer- of people and institutions which have digitise individual records and place ing but also the ways in which it is them online: for a small fee, amateur helped shape her career, giving the flawed. Its most serious challenges, audience a potted ‘genealogy’ of her and professional genealogists alike such as poor sanitation, lack of toilets own work in the past few decades. can access these records instantly. and poor occupational and ecological She particularly thanked Dr Alice Her talk went on to discuss how the health, need urgent redress and he ready availability of these data is wel- Reid, a fellow historical demographer emphasized the salient role of local at the University of Cambridge, with come to historical demographers who stakeholders and a federation of slum whom she has a close working rela- build up from these individual rec- residents in organizing for change. ords to explore trends and patterns in tionship spanning the last 20 years. Ultimately, while Dharavi remains an the population, much as demogra- imperfect example, it is one that en- The main thrust of Dr Garrett’s live- phers do with contemporary data. capsulates a number of challenges ly talk was to welcome a breaking that similar contexts in the develop- However, despite the advances in down of barriers within the field of ing world are already facing or will do historical demography and the result- technology which have eased con- so in the near future. ing dialogue between different areas ducting this kind of research, Dr Gar- rett emphasised that historical de- of the discipline, both within the UK Dr Sattherthwaite concluded his and internationally. Dr Garrett wel- mography is hampered so long as talk by setting out the goals cities comed this new and exciting era for those working in this field remain ought to target to enable ‘a finite historical demography, one which ‘boxed’ into their own sub-disciplines, planet to support an urbanizing defined by their use of different data follows the recent celebration of the world’. Cities, he underlined, must Cambridge Group for the History of sources, methods or even their inter- seek to cut GHG emissions by facili- Population and Social Structure’s est in different spaces or times. In- tating infrastructure and encouraging deed she joked that on arrival at Cam- 50th anniversary, a group she has lifestyle changes that decouple a ‘high long been associated with. After these bridge she was known as the ‘census lifestyle’ from ‘high energy consump- celebrations, She relayed with pleas- woman’ who looked at snapshots in tion’ one. They must pool their re- ure that the European Society for His- time, unlike proper historical demog- sources more efficiently to facilitate raphers who link baptisms, marriages torical Demography would meet for disaster risk reduction, poverty re- the first time, a clear marker of the and burials to reconstitute families. duction and a more equitable provi- beginning of an international dia- sion of resources. Cities more urgent- logue for historical demography. To help illustrate the importance of ly than ever need to generate methods talking to fellow historical demogra- to adapt and mitigate the risks of cli- The changes this new era has phers and demonstrate how this can mate change. Tackling all these is- brought have largely been heralded, help enhance our understanding of sues, he acknowledged, is no easy task in the UK at least, by the arrival of different historical events, Dr Garrett but one that requires greater autono- two new datasets which Dr Garrett used the example of the fertility tran- my and resources to be entrusted to drew upon to illustrate her talk. She sition in Europe. This example also city governments, plus the growing also drew comparisons with other served to introduce the Integrated participation and recognition of local existing datasets such as the North Census Microdata (I-CeM) held at the stakeholders and residents. Atlantic Population Project. However University of Essex. She discussed it was data from the UK that was at how the team has painstakingly col- the forefront of her talk. lated census data for Britain between Plenary 2: Historical Demogra- 1851 and 1911, harmonising the data phy: Past, present and future, a To introduce genealogy, Dr Garrett over time to consistent and detailed

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geographies. demography: the ‘Digitising Scotland’ establishment of two new data project will digitise 24 million Scot- sources with the potential to bring Dr Garrett showed the audience how tish record images of births, marriag- historical demography to the forefront sub-registration district-level data can es and deaths since 1855, and has the of population studies. It is hard not to help us understand the fertility transi- potential to be a great tool for demo- agree with her conclusions and share tion in a way that previous notable graphic research. She talked enthusi- in the excitement for a new era of his- attempts such as the Princeton sur- astically about the prospect of such a torical demographic research as we veys or work by Robert Wood were rich data source where deaths will be look forward to the insight into our unable to do. She talked of how these coded to ICD-10 codes and variables past which this will bring. studies, using either county-level or such as occupation will be comparable registration district-level data were across time. To illustrate the value of Thanks for plenary reports to: not detailed enough to help explain this dataset, Dr Garrett showed the Ridhi Kashyap (University of Oxford) why or where the fertility transition audience a graph of ‘deaths per day’ in – David Satterthwaite began. However, using sub- Scotland for 1950 and 1951 using data registration district-level data from I- from the pilot study. As cause of death Fran Darlington CeM, she showed the audience how are coded to ICD-10, this dataset can (University of Leeds ) - Eilidh Garrett differences in fertility rates between help us understand an epidemic in areas devoted to textile or mining in- Scotland during this time, as well as dustries might help explain the fertili- following its progression through the ty transition. country because the data is geo- BSPS would like to thank The Gal- referenced. ton Institute for their invaluable For the final section of the plenary, financial support again in 2014. This Dr Garrett introduced another new Dr Garrett concluded her inspiring helps to defray the plenary speakers’ dataset which plays a similar role in talk by thanking genealogists and rec- expenses and the bursaries for stu- breaking down the ‘boxes’ of historical ords offices who have prompted the dent members.

book does just this and gives an ex- ties are inherited (from his book He- cellent layman’s account of the field reditary Genius) implies that mental BOOK REVIEW in the first 64 pages of the book, disabilities are also inherited and which is an accomplishment in itself. what should society and politicians do about the latter group. Basing The Forgotten Brummie: the Thereafter the interests of the au- ideas on Darwin’s views on natural life and legacies of Sir Francis thor come more to the fore. He is an selection about survival of the fittest Galton , by David Allen industrialist and was financial direc- Galton suggested that the mentally fit Pub. David Allen (2014), ISBN 978‐ tor of Cadbury Ltd in Bourneville, should be encouraged to procreate, 1500305925 pp 162 Birmingham and explores the social, whereas the mentally unfit economic and political aspects of (unintelligent, idle, feckless, socio- Galton’s ideas on . He de- pathic etc.) should be discouraged fines eugenics as ‘the scientific study from doing so. This is a gross over- This is a lively and enjoyable book of the biological and social factors simplification which is no doubt why to read covering the multiple contri- which improve or impair the inborn politicians subsequently took up and butions that made to qualities of human beings and of fu- modified these ideas to suit their own African exploration, meteorology, ture generations’; there are many purposes with so much enthusiasm. statistics, mechanical inventions other simpler definitions of eugenics (Galton whistle, Galton Board etc.), that Galton advanced but this is per- This book, appears to align more heredity, psychology and of course haps the most controversial one so with the position of State care com- introducing the notion of eugenics. providing lots of material to write bined with individual responsibility One has to be a sort of polymath one- about! for the unfit. Thus he deplores the self to write learnedly about all these evolution of the Welfare State built topics if one wants to do justice to Starting with Galton’s thesis that by the post-war Labour government Francis Galton’s endeavours. This people’s advantageous mental abili- of 1945 that gradually introduced

GALTON INSTITUTE NEWSLETTER 9 WINTER 2014—2015

Unemployment Benefits, Family Al- of people come into the story includ- al Galton Lecture given by such emi- lowances, Housing Benefits, Child ing: George Bernard Shaw, Sydney nent men as , Allowances, Home help, Meals-on- Webb, H G Wells, , J H Edwards FRS, Sir David Weath- Wheels. etc. which led to an enor- Maynard Smith, , Ald- erall FRS, Sir Walter Bodmer FRS. mous national debt. The Welfare ous Huxley, etc. If the reader has mo- etc. The last two presidents of the State made it financially advanta- mentarily forgotten who they were Galton Institute have been J S Jones geous for some people to be out of and their contributions, the author FRS, Sir Walter Bodmer FRS and work rather than to take a regular provides a very helpful mini- Veronica van Heyningen FRS is our job; or to have a large family than to biography of each - those for Vilfre- current one. University College Lon- work because they could live off do Pareto, Montague Norman, A Go- don also holds quite frequent semi- child benefits; or for young women to bineau and O Verschuer were partic- nars on Galton’s and Pearson’s con- have multiple pregnancies (often ularly useful for me. I had not for- tribution to statistics. Perhaps the with different fathers) rather than gotten them, I never knew of them. author could make the occasional trying to become more self-sufficient; trip to London to come to one of our or to provide State support for heavy The last point that the author Annual Symposia. smokers to have expensive medical makes is that Francis Galton has treatments even if they refuse to stop been forgotten in Birmingham – ‘The David Galton smoking. Forgotten Brummie’- well he is not David is Professor of the Department forgotten in London. There is a very of and Genetics at Bart’s These are all complex socio- active Galton Institute (see our web- Hospital, London and a Trustee of political issues and a large number site) with a highlight being an annu- The Galton Institute.

social psychology, social neurosci- speakers also engaged in a lively and ence, and anthropology. thoughtful panel session at the end of From DNA to Social Minds Day 1 discussing: “Where next for David Skuse (University College biosocial sciences?”. Report of conference held by the London) provided an excellent open- Department of Psychology at the ing keynote on the role of oxytocin in We also saw ten high quality oral University of York human social behaviour (with a focus presentations from delegates over 30 June—1 July, 2014 on face emotion recognition). Philip the two days on topics including af- Corr (City University) followed up fective neuroscience, hormones and

The role of genetics in human so- with a tour de force overview of per- behaviour, face perception, the evo- cial behaviour has become a topic of sonality neuroscience research, and lution of cooperation, and gene- considerable interest and importance also highlighted a number of the environment interplay on human in recent years. However, biological challenges that behavioural scientists intelligence, as well as 18 posters of scientists and social scientists are will face if they wish to integrate bio- similar breadth and interest. rarely in the same room discussing logical and personality data success- the issues that arise at the nexus of fully. All in all, the event fuelled a large their respective fields. The goal of the amount of thought in the domain of event was to attempt to bridge this Essi Viding (UCL) started Day 2 social genetics and related fields and gap by drawing together academics with an inspiring keynote on the provided a forum for discussion that from each of these research tradi- darker side of human social behav- often doesn’t find its place in more tions, and to this end the organising iour: the genetics of psychopathy and traditional academic conferences.

conduct disorder. The final key note committee managed to attract a stel- Gary Lewis of the conference was delivered by lar set of keynote speakers from the Department of Psychology Constantine Sedikidis (University of fields of molecular and behavioural University of York genetics, personality neuroscience, Southampton) who provided an out- and experimental social psychology. standing talk on the topic of self- This conference was part sponsored The conference delegates also repre- knowledge and self-enhancement (as by The Galton Institute with addi- sented a broad range of disciplines, well as a crash-course on Ancient tional financial support from the including evolutionary psychology, Greek philosophy!). In addition to European Human Behaviour and behavioural genetics, personality, their key note presentation, our Evolution Association.

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Russell Gray started us off with the ing of data to generate statistically European Human centrality of language to understand- significant results (and when it is or ing human history, cognition and isn’t cricket to suggest another scien- Behaviour and Evolution culture; Annette Karmiloff-Smith led tist has done it), to the use of Amazon Association us towards rapprochement in the Mechanical Turk to recruit partici- Conference 2014 great ‘domain specific’ vs ‘domain pants for studies. In particular, dis- general’ debate; Martie Haselton gave cussions concentrated on whether us the latest on the lively debate sur- we’ve jumped from frying pan to fire rounding changes in women’s mate in an effort to get more With the support of the Galton in- preferences across the ovulatory cy- ‘representative’ samples than the stitute, 2014 saw Bristol hosting the cle; Daniel Hruschka asked the ques- ‘standard’ undergraduate from West- 2014 European Human Behaviour tion – what proximate cues tells us to ern, Educated, Industrialized, Rich and Evolution Association confer- engage in costly giving? While Samir and Democratic (WEIRD) societies. ence. The venue, At-Bristol, was a Okasha tackled a more ‘ultimate’ We can expect to hear much more fantastic springboard and the organ- question – how does kin selection about both of these are issues. isers received well-deserved thanks versus multi-level selection help us (and flowers). understand the evolution of social We had some fantastic contribu- behaviour? tions from our student presenters: As always, what stood out was the congratulations were due to Julien wide range of approaches represent- Discussions - in the post-talk Ques- Barthes for winning the student ed by the 200+ delegates: Evolution- tions and Answers, during the breaks, presentation competition with his ary psychologists, cultural evolution- and on Twitter - were lively. Much of talk “Male homosexual preference: ists, human behavioural ecologists, the focus was on classic evolutionary Where, when, why?” and to Jeanne evolutionary biologists, developmen- questions: how humans choose part- Bovet for the best student poster enti- tal psychologists, and an array of sci- ners; why they cooperate; how child- tled “Men prefer women with late entists who simply seek to under- hood learning shapes us; how we expected age at menopause.”. As al- stand human behaviour using evolu- ended up with language. There were ways EHBEA was a fun and fascinat- tionary principles. EHBEA is a won- sessions with a practical focus too – ing four days. We can’t wait for derful illustration of the benefits of the ‘Brainjuicer’ talk on how scientific EHBEA in Helsinki in 2015. bringing together different approach- understanding can inform business

es – beautifully illustrated by Young will have been of interest to scientists Investigator Prize winner Willem contemplating their ‘pathways to im- Dr. Katherine Cross, Frankenhuis’s plenary, which showed pact’ as they seek research funding in University of St. Andrews us how combining developmental an increasingly impact driven cli- and evolutionary sciences can lead to mate. And there were broader ques- EHBEA would like to thank The fascinating new insights. tions about how we should be Galton Institute who helped sup- (evolutionary) scientists: from the port this conference with a grant of The keynotes were equally diverse: scourge of ‘p-hacking’ - the massag- £1,000.

versity in London, Ontario, organised The conference started with the Canadian Conference on by Melissa Mann, Nathalie G. plenary speaker: Hiroyuki Sasaki. Epigenetics: Bérubé, David I Rodenhiser He first talked about the early years Epigenetics, Eh! Thomas A. Drysdale, Christo- of his research career and the prob- pher L. Pin and Victor Han. lems he faced with his mouse models of disease because of imprinting. He 23-27 June, 2014 The focus of the conference was on explained his fascination for the London, Ontario, Canada Biochemical and Clinical applica- mechanism of imprinting. tions. There were very informative talks by various researchers over 4 He also talked about Piwi RNA, The 2nd Canadian conference on days, many relevant to my research- which are male germline-specific and Epigenetics was held in Western Uni- work, and I mention a few highlights . maintain methylation at the ICR of

GALTON INSTITUTE NEWSLETTER 11 WINTER 2014—2015

Rasgrf1 (Science). He showed some tion. Her lab focuses on XIST RNA, about new developments in other recent findings from his lab, where DNA sequences and interacting pro- relevant areas in the field of epige- they have used post-bisulfite adaptor teins that establish silent chromatin. netics. It also offered me the oppor- tagging (PBAT) to study the methyla- Using an inducible transgene for tunity to network with many leading tion status of postnatal sperm stem XIST, they dissected the region of scientists globally. cells. His lab revealed large partially RNA necessary for localization and methylated domains similar to those silencing, as well as the recruitment found in placenta and cancer cells of proteins and heterochromatin I would like to thank the Genetics but not in somatic cells. They also modifications. She also showed the Society and The Galton Institute discovered a high level of non-CG importance of DNA sequence in the for providing me with this great op- methylation in neonatal prospermat- spread of silencing using DNA meth- portunity. ogonia, and stage-specific differen- ylation to discover genes subject to,

tially methylated regions, both po- or escaping from silencing. These Avinash Thakur tentially important for the regulation latter are often autosomal material University of Ulster of stem cell properties and differenti- shifted onto the X chromosome and ation. X- linked transgenes. Junior Scientist Travel Grant On the second day, Dr Matthew There were poster sessions on the Lorincz talked about transcription- second and third day of the confer- The Galton Institute has entered into al regulation of transposons. His lab ence at which I also presented my an agreement with The Genetics Society to provide support of £500 demonstrated a role for DNA methyl- own recent paper on two new classes toward each of three travel bursaries ation in controlling expression of of genes which share some features per annum organised and adminis- ERVs. Both ERV1 and ERV2 classes with imprinted genes and are con- tered by the Genetics Society. of retrovirus are marked with trolled in part by DNA methylation These £750 bursaries are given, on H3K9me3, with Setdb1 playing a (Development, Jan 2014). I was very a competitive basis to outstanding very important role in the process of happy to see people showing interest students working for a PhD on a top- establishing these marks on the ele- in our work and got good feedback ic relevant to the mission of the Insti- ments. and advice that can help me shape tute to allow them to attend appropri- ate conferences. Reports of their my future work and career. use of the bursaries will be placed in In addition, Dr. Carolyn Brown the Newsletter. who is an expert in the area of X Overall, the conference was a great chromosome inactivation, explained experience as it provided me with a Details and application form can be found on the Genetics Society web- how dosage compensation is associ- chance to present my work at an in- site. ated with X chromosome inactiva- ternational meeting and to learn

icine (LSHTM) and Birkbeck, Uni- new challenge is to integrate these versity of London. In 2014 its annual results with the wealth of additional Integrating the genome scientific meeting was held in con- phenotype data becoming available. with the phenome junction with the South of This includes identification of genes Genetic Epidemiology Group, an ad affecting multiple traits, integration Annual meeting of the hoc colloquium of researchers from of data from multiple “-omics” tech- Bloomsbury Centre for Genetic Epidemiology and Statistics, institutes in London, Cambridge, nologies, and delineation of relation- in conjunction with the South of Oxford, Bristol, Cardiff and else- ships between genes, intermediate England Genetic Epidemiology where. The meeting, on the theme of biomarkers and disease. Each of Group “Integrating the genome with the these areas has the potential to im- phenome”, was held at the Institute prove our knowledge of the molecu- of Child Health, UCL with the sup- lar mechanisms of disease. Methods The Bloomsbury Centre for Genetic port of The Galton Institute on 8 July to deal with this wealth of data are Epidemiology and Statistics (BCGES, 2014. under active development and are http://bcges.lshtm.ac.uk) is a joint not widely known by applied re- Research Centre of University Col- Following the successes of genome- searchers. This meeting aimed to lege London (UCL), the London wide association studies in mapping promote dialogue between methodo- School of Hygiene and Tropical Med- genes affecting single traits, a major logical and applied researchers, and

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to open up discussions on how best to nal nutrition. Marco Scutari (UCL) (Oxford) described a general statisti- develop the analysis methods for closed the morning by explaining cal model for assessing association these challenging new data. Bayesian networks and their use in with multiple correlated traits, allow- mapping quantitative trait loci for ing for relatedness between study Angelica Ronald (Birkbeck) opened multiple traits simultaneously. subjects, and presented several ana- proceedings by describing how genet- lytical and computational advances ic studies of multiple psychotic di- that are implemented in his software. After lunch, Chris Wallace mensions in adolescence could shed (Cambridge) described several pro- light on the developmental origins of The meeting was attended by 200 jects in her group, using statistical schizophrenia. Delilah Zabaneh delegates who welcomed the range of methods to identify shared genetic (UCL) then described the UCLEB topics covered. A number of posters control of related traits such as auto- consortium, a group of prospective were also contributed and helped to immune diseases. David Balding cohort studies with detailed pheno- create a lively atmosphere during (UCL) reviewed the concept of kin- typing on cardiovascular biomarkers, lunch and the subsequent drinks re- ship and how it has been redefined in and showed how different sources of ception. genomic annotation were being used the wake of high throughput genotyp- to prioritise genetic associations for ing which allows precise calculations Frank Dudbridge follow-up work. Matthew Silver of kinship for nominally unrelated (LSHTM) explained how in the Gam- individuals. Mike Weale (Kings Col- Professor of Statistical Genetics bia, the season in which a child is lege London) presented methods for London School of Hygiene and Tropi- conceived affects its later health out- using genomic annotation data as cal Medicine comes, and described how epigenet- prior information to sharpen statisti- ics could explain this effect by medi- cal inference about genetic associa- Thanks go to The Galton Institute ating the seasonal variation in mater- tion. Finally, Jonathan Marchini for helping to fund this conference.

the Global Health Working Group of nosing, treating and managing a the British International Studies As- number of communicable and non- Genetics, Genomics and sociation, and the Galton Institute. communicable diseases. However, at Global Health: Following a keynote and plenary least two critical barriers remain for Inequalities, Identities panel on ‘Genetics, Genomics and low- and middle-income countries: (1) comparatively little research fo- and Insecurities Global Health’ participants divided cuses upon locally relevant diseases, into groups to debate specific topics Conference Centre, University of taking into local genetic variation –including global health gaps, genet- Sussex, 18 July 2014 and conditions in low-income coun- ic privacy, global health security, mo- tries; (2) the high cost of many tech- lecular diagnostics, genetic identities nologies –which are principally de- On Friday 18th July 2014 an inter- and bioinformation economies. The veloped through private sector and disciplinary one-day conference general format was for invited ex- commercial involvement – makes brought together experts from the perts to give short presentations, fol- access to most of these technologies prohibitively expensive for low- fields of policy, research, industry, lowed by wider discussion with the income countries. foundations, journalism, and non- audience. The diversity of disciplines

governmental organisations at the represented coupled with the theme 2. A decade after the first human th ensured lively and thought- University of Sussex for the 4 Annu- genome was successfully sequenced, provoking discussion and a number al Global Health Conference on we are gaining a much more nuanced of key points emerged from the day. “Genetics, Genomics and Global and fine-tuned picture about which Health –Inequalities, Identities and diseases genetic and genomic infor- The key points to emerge from the Insecurities”. It was co-organised by mation may help address in future. It meeting are summarised below: the University of Sussex Centre for is also becoming clear, however, that Global Health Policy, the Wellcome the impact of genetics and genomics Trust, Brighton and Sussex Centre 1. Genetics and genomics could on global health will not be uniform; for Global Health Research, the Cen- prove transformational for global rather it will likely vary across differ- ent diseases as well as different areas tre for Bionetworking with support health in the coming decades by gen- erating new opportunities for diag- of global health – such as humanitar- from the European Research Council,

GALTON INSTITUTE NEWSLETTER 13 WINTER 2014—2015

ian biomedicine, population health, selves, but also on the wider social, scientific research on lethal diseases and global health security. political, and economic contexts in could lead to an accidental release of which new technologies are adopted a dangerous pathogen. Harnessing 3. Realizing the potential global and/or adapted. In particular, the genetic and genomic knowledge for health benefits of genetic and ge- process of producing genomic infor- the advancement of global health will nomic information will require diffi- mation will likely have profound im- thus have to navigate carefully be- cult balances to be struck in the years plications for the way in which health tween realizing the social benefits ahead, including: (1) between the care data will be structured and for- whilst minimizing possible new dan- commercial interests driving the ad- matted in future, so as to better facili- gers. vancement of new health technolo- tate its triangulation with genetic da- We are particularly grateful to the gies versus protecting the privacy of ta. That process will have potentially Galton Institute which supported people’s genetic and genomic infor- far-reaching social consequences – the conference with a grant of £1000. mation; and (2) between investing in consequences for which societies are This funded the attendance of the new capacity for genetic and genomic not yet fully or even well prepared. keynote speaker, Professor Andrew technologies in low-income countries Lakoff, Associate Professor of Sociol- versus spending on more affordable 5. Despite the likely long-run bene- ogy, Anthropology and Communica- but well-established technologies fits of genetics and genomics for tion, University of Southern Califor- with a proven track record in improv- global health, history cautions that nia and 20 Masters and PhD students ing global health, as well as on the the introduction of new technologies at the meeting. wider social determinants of health. are also often accompanied by new risks. Here there are dangers that Melanie Newport 4. The impact of genetics and ge- new information about life at the ge- Professor in Infectious Diseases and nomics on global health will depend netic level could be put to nefarious Global Health, Brighton and Sussex not just on the technologies them- use, or that even well intentioned Medical School

been annulled on grounds of non- ests of science and philosophy. It was OBITUARIES consummation. whilst there that he stared to devote his life to establishing humanism as a Harry was educated privately until realistic alternative to traditional reli- Dr Harry Stopes-Roe he went to Charterhouse. He read gions. He was rigorous in his think- 27 .3.24. - 11.5.14. physics at Imperial College London ing, worrying over precise phraseolo- and gained a PhD in philosophy from gy. He was involved in the debates on Harry was a long term member of St John's College, Cambridge. He the City of Birmingham's 'Agreed the Galton Institute and its predeces- moved to Birmingham as a lecturer Syllabus for Religious Education' in sor the Eugenics Society. He was also and senior lecturer in Science Studies 1975; this was the first time an at- the only child of the dominant birth- which neatly included his twin inter- tempt had been made to include non- control pioneer Marie Stopes and her religious approaches to living, such second husband Humphrey Roe a as humanism, in a multi-faith model businessman who had distinguished of religious education. He helped de- himself as a pilot in the First World vise the BHA's policy for education War. covering both religious and non- religious ways of living or 'lifestances' Marie Stopes had characteristically as he liked to call them, having de- strong and idiosyncratic views on bated for hours at the World Human- how Harry was to be brought up: no ist Congress in Buffalo Illinois on the books as they might give him second- exact wording of a definition of hu- hand and thus second rate thoughts; manism. The result was largely his: no trousers until he was eleven, as "humanism is a democratic and ethi- they gave heat in the wrong places cal life stance, which affirms that hu- and similarly no bicycle riding. This man beings have the right and re- allied to the letter she dictated to her sponsibility to give meaning and husband absolving her from her mar- shape to their own lives." riage vows as he could not satisfy her

says much about her personal sexual- ity and the milieu in which Harry was Harry was active in the Internation- brought up. Her first marriage had Dr Harry Stopes –Roe al Humanist and Ethical Union and

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his work for the British Humanist national, one of the world’s largest the best know of these was his best- Association was honoured in 2005 by organisations which selling work The Body (later re- being made a vice-president having provides a range of health care ser- named The Human Body) which sold previously been chairman. vices, including family planning ad- over 800,000 copies. vice, vasectomies and abortions in 40 Anthony was the first Briton to fly a This gives only a partial picture of countries around the world thereby balloon across the Alps in 1963 and Harry. His mother so objected to his helping six million couples each year. led The Sunday Times Balloon Safari marrying Mary Wallis daughter of expedition flying from Zanzibar to the scientist and inventor Sir Barnes In 1975 Tim Black and East Africa and across the Ngorongo- Wallis on the grounds that she was put up money to buy the lease of Ma- ro crater the previous year. short-sighted and therefore eugeni- rie Stopes’s famous Mothers’ Clinic cally impure that she refused to come in Whitfield Street, London, reopen- In January 2011 Anthony set out to the wedding and largely cut him ing it as Marie Stopes International from the Canary Islands on a home- out of her will. Nonetheless Harry (MSI). Prior to 1975 the Galton Insti- made raft to cross the Atlantic to supported his mother’s memory par- tute (the Eugenics Society as it was Eleuthera in the Bahamas. He had ticularly when there were objections then known) had administered this recruited three other volunteers and to his mother’s depiction on a post- clinic in the seventeen year period assembled a raft made of yellow gas age stamp, saying that her critics did since the death of Marie Stopes - as pipes, topped with a small hut, a sail not understand the views prevalent required by a clause in her Will. The ballooning from a telegraph pole and in the 1920's and that his mother had Institute’s association with Marie with a foot pumped computer for a strong sense of duty to the poor. Stopes International continued communications. Whilst on the raft, Harry was intellectually rigorous and through the many projects we helped in mid-ocean, Anthony celebrated his honest as well as being a charming fund in the 40 countries where they 85th birthday. human being, all characteristics worked. which his mother should have ap- After arriving in St Maarten in the plauded. That Harry was able to sur- Although Dr Black was not a mem- Caribbean he recruited another crew mount his upbringing and present ber of the Institute our long associa- and set sail in April 2012, finally such a rounded and sensible person- tion with him through Marie Stopes reaching Eleuthera 24 days later af- ality is to his credit and doubtless to International means we remember ter being washed up in a storm on his wife's support. him with both appreciation and ad- the beach. Amazingly, it was the He is survived by his wife, Mary, a miration. same beach as the Jolly Boat, a life- retired psychologist at the University BN 7.1.15. boat from the SS Anglo Saxon which of Birmingham and two sons and two ****** was sunk by the Germans in 1940, daughters. Dr Anthony Smith was washed up on. Anthony had se- GV 27.07.14. 30.3.26. – 7.7.14. cured the return of this boat in 1997

from the Mystic Seaport Museum in ****** Anthony was a member of The Gal- Connecticut and ensured its display Dr Tim Black, CBE ton Institute for 41 years and a Trus- in the Imperial War Museum in Lon- 7.1.37. - 11.12.14. tee for six of these. Anthony was best don. known as a bestselling author, broad- We note with regret the death of Dr caster, adventurer, balloonist, rafter Anthony is survived by two sons, Tim Black a family planning pioneer and former Tomorrow's World pre- three daughters and a grandson. who co-founded Marie Stopes Inter- senter. He published some 30 books, BN 7.1.15.

owing to government intervention textbooks and the now essential soft- THE NEW A-LEVEL CURRICLUM (essentially Michael Gove), both con- ware that accompanies them. Cer- IS IT FIT FOR PURPOSE? tent and format of A-levels are tainly, the publishing companies ben- changing. Why A-levels must change efit when these changes appear.

The wait is over. Biology teachers so frequently is perplexing. Secretar- across England and Wales now know ies of State like to leave their mark So what’s new in A-level Biology? what they must prepare to teach for and in the Sciences there are bound I’m going to consider the two areas of the new A-level curriculum, starting to be new topics which need to be change: content and format. in September 2015. included at the expense of others. Nevertheless, the more cynical mem- Firstly, how has the content Every five years A-level specifica- bers of the teaching profession see changed and has it changed for the tions change. This time, however, such changes as a way of selling new better? There are plenty of topics

GALTON INSTITUTE NEWSLETTER 15 WINTER 2014—2015

which were on the syllabus when I astonished if less than 100% of candi- from day one. Of course, candidates started teaching A-level Biology in dates achieve ‘Pass’ for their practical could just sit AS exams in all their 1974 and which are still there today. work. subjects, as they do now, and then Most of the biochemistry, cytology choose which one to drop. Surely and ecology have barely changed and This lack of discrimination is a seri- these exams would be good practice? the same questions still come up on ous concern. The idea that in these But why would students prepare thor- the exam papers after all these years. practical subjects, practical ability is oughly for exams which don’t count not contributing to the final grade for anything? There are also signifi- At the Galton Institute, however, we seems absurd. It would be like apti- cant entry-fee implications for are especially interested in the genet- tude for drawing or painting not schools. The absurdity is of course ic components of the new specifica- counting in A-level Art! that the man behind all this is no tion. Here, there is good news to re- longer in post! A number of organisations have port. Dihybrid crosses and autosomal expressed their grave concerns re- linkage have made a welcome return Ofqual have done a good job updat- garding this, including BERG to the Mendelian section, while Ge- ing the content of A-level Biology. It (Biology Education Research Group) netic Drift finally makes an appear- seems madness to me, however, to and SCORE (Science Community ance alongside Natural Selection. The detach practical work from the grade Representing Education) but so far biggest changes, however, concern assessment. This, along with the the DfE seem remarkably obdurate. updating the section on DNA and bio- change to AS exams, means that this

technology. Epigenetics gets a men- new curriculum does not do the job. I have further misgivings with the tion, as does methylation of DNA and These changes were driven by politi- format of the new curriculum. At pre- acetylation of histones. For the first cal expediency and not educational sent, almost all A-level students start time, genetic fingerprinting uses merit. The end result is a great disap- their two year courses studying FOUR terms such as VNTRs. Even genomics pointment to most committed teach- subjects. At the end of the first year, has a walk-on part. ers. they sit exams (AS) and achieve a

grade for each. University offers, Ofqual, who formulate these chang- however, are usually for THREE sub- es, are to be congratulated. Some jects and candidates usually drop one teachers, understandably, are wary of Robert Johnston subject (and cash-in that AS grade), change and are concerned with how Fellow of the Galton Institute continuing with the other three. they will approach some of these de- These AS marks then contribute to manding topics and how they can the full A-level. afford to offer worthwhile practical

work to their students. There is also THE GALTON INSTITUTE Mr Gove didn’t like this. He wanted more mathematical content which is all the assessment to be at the end of excellent training for the budding TEACHERS’ CONFERENCE the two year course because he be- career scientists but many ‘average’ A lieved that this is a better measure of Genetics in the 21st Century -level Biology students might well be ability (despite university science 30 June, 2015 put off by this. courses being assessed over three years as modules). That is why he had This leads me to a concern shared already abandoned January module To be held at: by many Biology teachers: assess- exams. So from September 2015, in Nowgen Centre ment of practical work in all the Sci- ALL A-level subjects, candidates will 29 Grafton Street ence subjects. The new scheme will start their four subjects, but if they sit Manchester M13 9WU involve candidates undertaking 12 AS exams at the end of the first year, prescribed practicals over two years. these will NOT contribute to the full These will be assessed by the teachers A-level. In other words, they are a This is a genetics up-date day for themselves, resulting in an overall waste of time and money except when A-Level Biology Teachers in the Pass or Fail grade for practical work. a candidate is sure which subject is to light of the changes to In other words, it will not contribute be dropped. Unfortunately, this does the curriculum to the actual grade, which will be en- not happen. Candidates typically tirely externally assessed by examina- work hard in all four subjects and tion. There is no requirement for stu- then AFTER the AS results, decide Admission free but strictly by ticket dents to plan practical work and no which one to drop. This new system From: [email protected] way of discriminating the A* student will work only if candidates know from the grade E student. I should be which subject they intend to drop

WINTER 2014—2015 16 GALTON INSTITUTE NEWSLETTER