July 2008 . ISSUE 59


A word from the editor
        ow soon until the $1000      based on the results of tests we

Issue 59 . July 2008

Evolution of Sex and
Asexual Reproduction
One day meeting. Friday 5 September 2008 at the University of Bath, UK

While th...
A Joint One Day Genetics Society and
British Society for Human Genetics Meeting

Human Genetic Disease: From
model organis...
A meeting of The Genetics Society

The Mammalian Genetics
and Development Workshop
20th - 21st November 2008 . Institute o...

If you would like to announce a meeting that you think may be of
interest to ...


4th London Fly Meeting                ...

The Genetics Society helps support several sectional interest groups by providi...


The Zebrafish Forum f...
11                          GENETICS SOCIETY BUSINESS

Annual General Meeting
    he Annual General Meeting     physica...


Genetics Society Awa...


Presidents Recognised
We are happy to repor...


Heredity News


News From The Bi...


Promega Young
Geneticist o...


such as differential...

The Genetics Society Spring Meeting
Frontiers in Epigenetics
Saturday 10 ...


components o...


collaboration with Steve          that X...
GENETICS SOCIETY SPONSORED EVENTS                                       22

 1st Mammalian Genetics, Development
 and Dise...


expression. Staying with the        Da...


A Trip...
25                                                            FEATURES

A Taxi Driver Writes...
The personal genome: wh...


distinct from those diagnostic     Ge...
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  1. 1. July 2008 . ISSUE 59 GENETICS SOCIETY NEWS www.genetics.org.uk IN THIS ISSUE Genetics Society News is edited by Steve Russell. Items for future issues should be sent to Steve Russell, preferably by email to • Genetics Society Epigenetics Meeting s.russell@gen.cam.ac.uk, or hard copy to Department of Genetics, • Genetics Society Sponsored Meetings University of Cambridge, Downing Street, Cambridge CB2 3EH. The Newsletter is published twice a year, with copy dates of 1st June and • Travel, Fieldwork and Studentship Reports 26th November. • John Evans: an Appreciation Cocoons of the parasitoid wasp Cotesia vestalis on cabbage leaf in Taiwan. From the • Twelve Galton Lectures fieldwork report by Jetske G. de Boer on page 36. • My Favourite Paper
  2. 2. A WORD FROM THE EDITOR A word from the editor ow soon until the $1000 based on the results of tests we H genome is actually with us and individual sequencing is widespread? The barely understand! Here in the UK there is currently a moratorium, adhered to by publication of increasing most insurers, on the use of numbers of individual human genetic testing information for genome sequences suggests assessing life insurance that we should start to consider applications. It is important some of the implications that this remains in place and associated with the availability its effectiveness is reviewed of personal genetic well before the current information. In this issue we moratorium expires in 2011. present two articles reflecting The Human Genetics on his issue: a report from a Commission Genetics Society sponsored (http://www.hgc.gov.uk) meeting recently held in monitor issues relating to Cambridge organised by The genetic discrimination in the Triple Helix, an international UK and are a point of contact undergraduate organisation, as for those with any concerns in the Millennium Technology Prize. On a less well as our Taxi Driver column this area. happy note, the Society was sad to learn of the by Andrew Grierson. In recent death of John Evans, a much-respected relation to the societal The implications of using figure in international genetics. Our president implications of personal personal sequence data in Elect, Veronica van Heyningen, presents an genetic information, on May society has some echoes with appreciation of his life in science. 21st this year, the U.S. President the eugenics movement signed into law the Genetic prominent in the early 20th We have a report of the recent Genetics Society Information Non- Century and in this issue Mike meeting on epigenetics along with other society- discrimination Act (GINA). Majerus reviews the recent sponsored meetings and a selection of reports The new legislation will publication of a volume of from members who received travel or fieldwork prohibit employers and health lectures marking the Centenary grants. I hope you enjoy this issue and, as insurers from discriminating of the Galton Institute that always, anything you want to get off your chest, against individuals on the basis provides some historical scientifically speaking, can be published in our of their personal genetic context to this important Taxi Driver column. I also welcome any other information and was driven by current debate. material you feel would be of interest to the the joint efforts of the Society membership and you can contact me to American Society of Human We are happy to report a flurry sound out potential articles. Genetics, the Coalition for of awards for current and past Genetic Fairness, the Genetic presidents of the Genetics Alliance and other Society. Our current president, Steve Russell organizations in the genetics Brian Charlesworth, receives community. See the NHGRI the Weldon Memorial Prize, University of Cambridge website www.genome.gov/24519851 former president Michael for more details of this Ashburner receives the Thomas important step forward in Hunt Morgan Medal and Alex preventing discrimination Jeffries has been nominated for 2 . GENETICS SOCIETY NEWS . ISSUE 59
  3. 3. Issue 59 . July 2008 NEWS . FEATURES . REPORTS . LISTINGS For more details please contact: The Genetics Society . Roslin BioCentre CONTENTS Wallace Building . Roslin . Midlothian . EH25 9PP Tel: 0131 200 6391 . Fax: 0131 200 6394 email: mail@genetics.org.uk Website: www.genetics.org.uk The Genetics Society Journals Heredity (www.nature.com/hdy/) Managing Editor: Prof Richard A. Nichols, QMUL, UK Genes and Development (www.genesdev.org/) REGULARS European Editor: Prof Winship Herr, Lausanne, Switzerland Meeting Announcements 4 - 10 President Prof. Brian Charlesworth, University of Edinburgh Evolution of Sex and Asexual Reproduction Human Genetic Disease: President-elect From Model Organisms to the Clinic Prof. Veronica van Heyningen, MRC Human Genetics Unit, Edinburgh Mammalian Genetics and Development e versa? There are multiple contrasting approaches to these problems: theoretical versus empirical appr Vice-Presidents netical verses ecological explanations, field versus laboratory systems. This meeting will bring together ands in current research. Workshop Prof. J. Steve Jones, University College London External Meetings Diary Prof. John Brookfield, University of Nottingham Prof. Ian Jackson, MRC Human Genetics Unit, Edinburgh Sectional Interests Groups Honorary Secretary Genetics Society Business 11 - 18 Prof. Patricia E Kuwabara, University of Bristol AGM Honorary Treasurer Committee News Prof Josephine Pemberton, University of Edinburgh Genetics Society Awards Scientific Meetings Officer Postgraduate Rep Dr Andrew Ward, University of Bath Heredity News Biosciences Federation News Newsletter Editor Dr Steve Russell, University of Cambridge Promega Young Geneticist of the Year Postgraduate Representative Genetics Society Meeting Reports 19 - 21 Mr Tom Nowakowski, University of Edinburgh Frontiers in Epigenetics Ordinary Committee Members Dr Hilary Ashe, University of Manchester Genetics Society Sponsored Events 22 - 24 Dr Mark A. Beaumont, University of Reading Dr Ewan Birney, European Bioinformatics Institute Mammalian Genetics, Development & Disease Dr Tanita Casci, Nature Reviews Genetics Who Owns My Genome? Dr Liam Dolan, John Innes Centre, Norwich Dr Alison Dunn, University of Leeds Prof. Adam Eyre-Walker, University of Sussex Dr Anne Ferguson-Smith, University of Cambridge Dr DJ de Koning, Roslin Institute, Midlothian Prof. Graham Moore, John Innes Centre, Norwich FEATURES Dr Tom Weaver, Medical Solutions PLC Dr Tanya Whitfield, University of Sheffield A Taxi Driver Writes 25 - 28 Book Review: Twelve Galton Lectures 29 - 30 Design John Evans: an appreciation 31 - 32 Round & Red Creative . 15 Poole Road My Favourite Paper 33 - 34 Woking . Surrey . GU21 6BB Tel: 01483 596 226 . www.round&red.com Fieldwork and Studentship Reports 35 - 37 Fungal Pathogens Printing Parasitoid Wasps RPM Print & Design . Spur Road . Quarry Lane Chichester . West Sussex . PO19 8PR . UK Tel: 01243 787 077 . admin@rpm-repro.co.uk Student Travel Reports 38 - 44 DNA Replication & Recombination Advertising in Genetics Society News represents an RNAi, microRNA and ncRNA opportunity to reach a large community of professional Alternative Splicing & Disease geneticists. For rates please email mail@genetics.org.uk Atlantic Salmon Drosophila www.genetics.org.uk . 3
  4. 4. Evolution of Sex and Asexual Reproduction One day meeting. Friday 5 September 2008 at the University of Bath, UK While the maintenance of sex and recombination remains an intellectual challenge, the long term persistence of some asexuals is equally puzzling. What if anything can be learnt about the former issues by studying the latter and vice versa? There are multiple contrasting approaches to these problems: theoretical versus empirical approaches, genetical verses ecological explanations, field versus laboratory systems. This meeting will bring together all of these strands in current research. Speakers: Scientific organisers: Christina Burch (North Carolina, USA) Laurence Hurst (Bath) and Roger Butlin (Sheffield) Jukka Jokela (Zurich, Switzerland) Peter Keightley (Edinburgh, UK) Featuring: Ryszard Korona (Krakow, Poland) 2008 Mendel Medal winner, Dunja Lamatsch (Mondsee, Austria) Matthew Meselson (Harvard, USA) Thomas Lenormand (Montpellier, France) Mike Lynch (Indiana, USA) 2008 Balfour Lecture by Stefan Scheu (Darmstadt, Germany) Daven Presgraves (Rochester, New York) Registration Fees: Genetics Society members £30, non-members (academic) £80, non-members (non-academic) £135 Student members can apply for travel grants to offset the cost of attending this meeting (see website for details). Visit the Genetics Society website for further details and to register for the meeting: www.genetics.org.uk/home.
  5. 5. A Joint One Day Genetics Society and British Society for Human Genetics Meeting Human Genetic Disease: From model organism to the clinic Friday 28th November 2008, The Royal Society, London SCIENTIFIC ORGANISERS Genetics Society: Lizzy Fisher (UCL) and Andrew Ward (Bath) BSHG: Phil Beales (ICH, London), Eamonn Maher (Birmingham) and Andrew Wilkie (IMM, Oxford) SPEAKERS Robin Ali (University College London, UK) Kathryn Anderson (Sloan-Kettering Institute, New York) Han Brunner (Nijmegen, Netherlands) Juan Botas (Baylor College of Medicine, Texas, USA) Neal Copeland (Institute of Molecular and Cell Biology, Singapore) Wofgang Driever (Freiburg, Germany) Jill Helms (Stanford University, USA) Jenny Morton (University of Cambridge, UK) Nadia Rosenthal (EMBL, Monterotondo, Italy) The 2008 Genetics Society Medal will be awarded to Nick Hastie (MRC Human Genetics Unit, Edinburgh) Further details will be made available at www.genetics.org.uk
  6. 6. A meeting of The Genetics Society The Mammalian Genetics and Development Workshop 20th - 21st November 2008 . Institute of Child Health, UCL, 30 Guilford Street, London WC1N 1EH The Mammalian Genetics and Development Workshop is a small annual meeting that aims to cover any aspects of the genetics and development of mammals. Meetings are based on the submitted abstracts, and usually include diverse topics ranging from early mammalian development (not exclusively human or mouse), imprinting and positional cloning of disease genes to human population genetics and association studies. In recent years, presentations on other model systems (such as chick and zebrafish) have also been included where these relate to general developmental questions or disease models. The meeting is traditionally a venue for post-docs and PhD students to talk rather than laboratory heads and so is an excellent training ground and friendly, informal forum for discussing new results. In keeping with this objective, we offer TWO PRIZES of £150 to individual post- graduate/post-doctoral presenters who, in the opinion of a panel of judges, have given an outstanding presentation. A further prize is also offered, thanks to the generosity of the editors of Mammalian Genome (Springer). The prizewinner receives £150, a book of choice from the Springer range plus a year's subscription to Mammalian Genome. One additional prize of £200 will be awarded to the speaker judged to have given the best presentation of a genetics-based research project. Promega, who will also sponsor the wine reception at this meeting, generously contributes this prize. Registration A £10 registration fee is payable by all attendees on arrival at the meeting. The fee entitles registrants to attend all of the scientific sessions, to receive the abstract booklet and tea/coffee refreshments on both days. Speakers and chairpersons will be provided with lunch, free of charge, on the day of their presentation. Other participants will be expected to make their own arrangements for lunch. All participants are responsible for organising their own overnight accommodation, if required, although we can advise on places to stay. There will also be a wine/cheese reception (sponsored by Promega) on the first day of the meeting. Abstract Submission All Workshop presentations will be in lecture format (15 or 30 minutes), chosen from abstracts submitted prior to the meeting. If you would like to present a paper at the Workshop please send your abstract by e-mail to the following address: MGD.Workshop@ich.ucl.ac.uk. With the authors' permission, abstracts will be published in Genetical Research.
  7. 7. 7 EXTERNAL MEETINGS DIARY If you would like to announce a meeting that you think may be of interest to Genetics Society members, please contact the newsletter editor Steve Russel s.russell@gen.cam.ac.uk. XX International Congress of Genetics Mycological Society of America 2008 12th – 17th July 2008 9th – 13th August 2008 Berlin, Germany Pennsylvania, USA further info www.geneticsberlin2008.com/ further info www.outreach.psu.edu/programs/ mycology/ International Society for Animal Genetics 2008 20th – 24th July 2008 Molecular Biology of Archaea 2008 Amsterdam, The Netherlands 19th – 20th August 2008 further info www.isag2008.nl/ St Andrews, UK further info www.biochemistry.org/meetings/ DNA Topology and Topoisomerases (Topo2008) programme.cfm?Meeting_No=SA079 20th – 23rd July 2008 John Innes Centre, UK 9th International Conference on Systems further info www.liv.ac.uk/sbs/Topo2008/Register.html Biology 22nd – 28th August 2008 2008 Yeast Genetics and Molecular Biology Meeting Göteborg, Sweden 22nd – 27th July 2008 further info http://icsb-2008.org/ Toronto, Canada further info www.yeast-meet.org/ Agricultural Biotechnology International Conference 19th International Conference 24th – 27th August 2008 on Arabidopsis Research Cork, Ireland 23rd – 27th July 2008 further info www.abic.ca/abic2008/html/ Montreal, Canada program.html further info www.plantconferences.org/ Arabidopsis2008/ GARNet/SEB Plant Symposium 8th – 10th September 2008 International Symposium on Induced Nottingham. UK Mutations in Plants further info http://garnet.arabidopsis.info/ 12th – 15th August 2008 Vienna, Austria ESF-EMBO Symposium on Bacterial Networks further info www-pub.iaea.org/MTCD/Meetings/ 13th – 18th September 2008 Announcements.asp?ConfID=167 Sant Feliu de Guixols, Spain further info www.esf.org/index.php?id=4565 RNA 2008 28th July – 3rd August 2008 Berlin, Germany further info www.rna2008.mpg.de/ www.genetics.org.uk . 7
  8. 8. EXTERNAL MEETINGS DIARY 8 4th London Fly Meeting Annual Symposium: DNA damage: From 19th September 2008 Causes to Cures London, UK 15th – 17th December 2008 further info http://lfm2008.org.uk Robinson College, Cambridge, UK further info www.biochemistry.org/meetings/ Molecular Genetics of Aging programme.cfm?Meeting_No=SA084 24th – 28th September 2008 Cold Spring Harbor Laboratory, USA Epigenetics, Development and Human Disease further info http://meetings.cshl.edu/meetings/ 5th – 10th January 2009 aging08.shtml Breckenridge, USA further info HUGO 13th Human Genome Meeting www.keystonesymposia.org/Meetings/ 27th – 30th September 2008 ViewMeetings.cfm?MeetingID=978 Hyderabad, India further info http://hgm2008.hugo-international.org/ Fourth Biennial Conference of the International Biogeography Society 10th Human Genome Variation Meeting 8th – 12th January 2009 15th – 17th October 2008 Mérida, México Toronto, Canada Invited symposia will feature talks on the further info www.tcag.ca/hgv2008/ biogeography of disease, patterns and processes in biotic transition zones, disjunct distributions in Advances in Nucleic Acid Detection & Quantification Asia and America, and the biogeography of species 28th – 29th October 2008 extinction. Attendees are invited to submit Hinxton Hall, Cambridge, UK abstracts for oral and poster presentations. The further info www.biochemistry.org/meetings/ conference will also include workshops, field programme.cfm?Meeting_No=SA092 excursions, and social events. Registration, contact, and additional information may be found at: Mouse Genetics & Genomics: Development & Disease http://www.biogeography.org. 29th October – 2nd November 2008 further info http://www.biogeography.org Cold Spring Harbor Laboratory, USA further info http://meetings.cshl.edu/meetings/ Miami Winter Symposium 2009: Interpreting mouse08.shtml the Human Genome 24th – 28th January 2009 58th American Society for Human Genetics Meeting Miami, USA 11th – 15th November 2008 further info www.nature.com/ Philadelphia, USA natureconferences/MWS2009 further info www.ashg.org/2008meeting/ index.shtml Cancer Genetics and Epigenetics IV International Conference on Legume Genomics 25th – 30th January 2009 and Genetics Ventura, USA 7th – 12th December 2008 further info www.grc.org/programs.aspx?year= Puerto Vallarta, Mexico 2009&program=cancer further info www.ccg.unam.mx/iclgg4/ 8 . GENETICS SOCIETY NEWS . ISSUE 59
  9. 9. 9 SECTIONAL INTEREST GROUPS The Genetics Society helps support several sectional interest groups by providing meeting sponsorship. We currently have 8 groups who organise sectional interest meetings with the organizers and dates of any forthcoming meetings are listed below. We include short reports form two of our groups on their recent activities. If you are interested in any of these areas, please contact the relevant organiser. Groups who wish to be considered for sectional interest group status should contact the Treasurer, Josephine Pemberton, in the first instance. Arabidopsis London Fly Meetings: The London Fly Meetings Organiser: Ruth Bastow (ruth@arabidopsis.info) (LFMs) are monthly gatherings of Drosophila groups GARNet/SEB Plant Symposium 8th – 10th September in the London area held at the Cancer Research UK 2008, University of Nottingham. London Research Institute on the third Wednesday of http://garnet.arabidopsis.info/ each month, and are organised by the London Fly Group. Recent attendance at the monthly meetings Archaea group has been excellent, frequently topping 50 Organiser: Thorsten Allers participants. The meetings start with an informal (thorsten.allers@nottingham.ac.uk) mixer, during which fly stocks and stories are often Molecular Biology of Archaea 2008 exchanged, followed by one or two speakers. Usually, 19th – 20th August 2008, University of St Andrews. the speakers are from participating labs, but we also http://www.biochemistry.org/meetings/programme.cf occasionally host external speakers, such as Ulrike m?Meeting_No=SA079 Gaul from Rockefeller University on September 5th 2007 who presented her latest work on glial cell British Yeast Group development. Topics covered by our local speakers in Organiser: Alistair Goldman 2007 included Src signalling in imaginal discs (Paul (a.goldman@sheffield.ac.uk) Langton, Tapon lab, CRUK), DIAP2 in the control of cell death (Paulo Ribeiro, Meier lab, Breakthrough C. elegans Cancer Centre), the circadian clock and light (Nikolai Organiser: Stephen Nurrish (s.nurrish@ucl.ac.uk) Peschel Stanewsky lab, Queen Mary’s) and insulin signalling in the CNS (Irene Miguel-Aliaga Gould lab, Ecological Genetics Group NIMR). Finally, we enjoyed a fabulous Lebanese Organiser: Barbara Jones (b.jones@ccw.gov.uk) buffet for our festive December meeting, and even more fabulous science as Andrea Brand (Gurdon Genetics Society Pombe Club Institute, Cambridge) presented her lab’s exciting Organiser: Jacky Hayles (j.hayles@cancer.org.uk) new work on stem cell populations in the nervous system. In addition to the monthly meetings, the Mammalian Genetics & Development London Fly Group also organises the highly Organisers: Elizabeth M. Fisher and Nick Greene successful biannual international London Fly Contact: mgd.workshop@ich.ucl.ac.uk Meetings. The 4th London Fly Meeting will be on Fri 9th September 2008 at King’s POP group College(http://lfm2008.org.uk/). Organiser: Deborah Charlesworth (Deborah.Charlesworth@ed.ac.uk) The Zebrafish Forum Organiser: Rachel Ashworth (r.ashworth@ucl.ac.uk), Drosophila Caroline Brennan (C.H.Brennan@qmul.ac.uk), Organiser: David Ish-Horowicz Corinne Houart (corinne.houart@kcl.ac.uk). (david.horowicz@cancer.org.uk) There are meetings at 5:30pm-8.00pm on the first Monthly meetings are organised by: Thursday of every other month. Room G12, New Joe Bateman (joseph_matthew.bateman@kcl.ac.uk) Hunt's House, King's College - London SE1 1UL www.genetics.org.uk . 9
  10. 10. SECTIONAL INTEREST GROUPS 10 The Zebrafish Forum from two different perspectives Manuela Lahne and Rachel Ashworth, QMUL. progenitor cells become transferase and sulfatases both of which are specified to one of several involved in the regulation of heparan sulfatation distinct fates, using the and showed vascular phenotypes ranging from vertebrate neural crest as a vascular oedema to reduced branching. This model system. In February the presentation was followed by Tom Chipperfield, zebrafish forum was held at who identified targets of the transcription factor UCL, thanks to Masa Tada, and Sox10 in neural crest cells. He carried out his included three speakers. research using microarray techniques and in situ Manuel Batista, University of hybridisation. The final speaker, Rachel n this report we bring a Cambridge, described his work Ashworth, is investigating the role of neural I roundup of past meetings: December and February as examining Pax2 and its role in the specification of activity induced calcium signals on the development of slow muscle fibres. She used described by Rachel Ashworth, interneurons. Issac Bianco, calcium imaging techniques as well as along with an overview of the University College London immunocytochemistry to determine muscle March meeting from Manuela talked about his work on phenotypes in zebrafish mutants. The meeting Lahne, a new member of the analysis of lateralised circuitry gave me an opportunity to gain insight into the zebrafish community. We in the zebrafish brain, with versatility of research questions that are tackled would also like to draw your focus on the habenular nuclei. using zebrafish, as well as the techniques that attention to an upcoming Helen Bodmer, from the Home are used to carry out this research. Moreover, meeting on zebrafish welfare, Office, led a group discussion attending the meeting allowed me to acquire and husbandry, and maintenance, to regarding defining consolidate basic knowledge regarding zebrafish be held at UCL in October. developmental stages. anatomy and development. It was also helpful to meet with researchers in the field and discuss The December meeting, held at In March I had the pleasure of related subjects in a relaxed environment with a Queen Mary University of attending the fish forum at the glass wine. I am now looking forward to London, had a packed Weatherhall Institute of zebrafish forums in the future. programme including 3 Medicine in Oxford, organized speakers and posters. Tessa by Roger Patient and co-hosted Peterkin from University of with the monthly Forthcoming events: Oxford described her developmental biology club. October 2008 Zebrafish Forum at UCL investigation of the role of This was the first zebrafish (date to be confirmed). GATA transcription factors, forum I attended after only GATA 4, 5 and 6, in vertebrate recently moving into a research Zebrafish welfare, husbandry, and maintenance: heart development. Gavin area that uses this model this is a one-off meeting designed as a forum for Wright from The Sanger organism. The three speakers, both technical staff and researchers, involving Institute presented work on Sally Stringer, Tom subjects interesting and useful to all groups with large scale screening for novel Chipperfield and Rachel an interest in zebrafish. The meeting will involve low affinity transient Ashworth, are investigating aspects of zebrafish welfare, husbandry and extracellular-ligand pair very different topics and talked maintenance, alongside more research-based interactions. The group is about some of their most recent topics. The aim is to encourage discussion of using zebrafish to determine discoveries. Sally Stringer some of the more practical but often overlooked the functional significance of described vascular development aspects of this model organism. There will be a identified cell surface in zebrafish with the specific presentation of posters and people are interactions in vivo. Robert focus on heparan sulfates. She encouraged to bring along any appropriate work. Kelsh from University of Bath used morpholinos in order to Please contact the event organizers of this one gave an overview of their work knock down two groups of off event for more information: examining how pluripotent enzymes, the hexosulftate-6-O- Carly Nicholls c.nicholls@qmul.ac.uk 10 . GENETICS SOCIETY NEWS . ISSUE 59
  11. 11. 11 GENETICS SOCIETY BUSINESS Annual General Meeting he Annual General Meeting physical event, many members who took the time to register T of the Society, where new members are admitted and took advantage of the new electronic voting system, for their votes. committee members elected, which we are very grateful. The AGM admitted 218 new was formally held during the The AGM is an essential part of members and voted in favour of recent Epigenetics meeting in the running of the Society and the committee nominees for Norwich. In addition to the we thank all of the members new committee members. The new committee members are: President-Elect (to succeed Brain Charlesworth in 2009): Veronica van Heyningen Vice-President (Corporate Affairs): Ian Jackson Vice-President (External Relations): John Brookfield Honorary Secretary: Patty Kuwabara Postgraduate Representative: Tom Nowakowski Committee area “E” Adam Eyre-Walker (evolutionary, ecological & population genetics) Committee area “F” Tom Weaver (corporate genetics & biotechnology) Committee News his year, the time has owes a particular debt of grateful to Hazel Hutchison for her work in the T come to bid farewell to several long-serving officers gratitude to John and Helen, who unselfishly volunteered office during this period. Fortunately, we now have a new Executive Officer, Christine Fender, of the Society: the Honorary last year for an extra year’s and I am confident that the new officers that Secretary, John Armour, the service. This was done in have come onto the Committee can look Vice-President for External order to help us through the forward to a smoothly running operation. I am Relations, Bill Hill, and the difficult period when the delighted to welcome them aboard. I am sure Vice-President for Corporate Society’s office lacked an that John, Bill and Helen will enjoy their well- Affairs, Helen Sang. They Executive Officer, with the deserved leisure hours, if their other duties have all given outstanding, result that a considerable allow them to have any. and unremunerated, service burden of work fell upon their to the Society. The Society shoulders. We should also be Brian Charlesworth, President www.genetics.org.uk . 11
  12. 12. GENETICS SOCIETY BUSINESS 12 Genetics Society Awards Winner of the 2009 Balfour Lectureship The Sir Kenneth Mather Memorial he Balfour Lecture, named Matt became a group leader at T after the Earl of Balfour, the Society’s first President, is the Sanger Institute in 2003, where he quickly demonstrated Prize awarded annually to mark both flair and imagination for his is an annual prize of contributions to the field of genetics by an outstanding genomic analysis. He was the senior author on an influential T £150 to reward a BSc, MSc or PhD student of any UK young investigator. We are paper published in Nature (2006), University or Research delighted to announce that the which highlighted the importance of global Institution who has shown 2009 Balfour Lecturer will be variation in copy number on the human genome; outstanding performance in Dr. Matthew Hurles, Wellcome he was also a member of a team that published the areas of quantitative or Trust Sanger Institute, an analysis of the impact of copy number population genetics. Hinxton, Cambridge. Matt’s variation on gene expression and disease research career has been susceptibility in Science (2007). Matt’s study of Nominations should be made devoted to understanding the human evolution has also led him to assess how between July 1st and basis of human variation from genome dynamics mediated by mechanisms such November 1st inclusive of each both a genetic and as homologous recombination have affected year through the local Head of archaeological perspective. human evolution. Department or School of the nominee. Nominations should consist of no more than one page of A4, setting out the case for the nomination, including Winner of the 2009 Genetics Society Medal relevant comparison with other students where possible. Nominations should be sent to he GS medal is awarded played a leading role in T annually to recognise outstanding research generating high-resolution genetic and physical maps of the the Head of School, School of Biosciences, The University of Birmingham, Birmingham, B15 contributions in genetics and mouse genome, and he continues 2TT, clearly labelled as a the Genetics Society is to foster the development and nomination for "The Sir delighted to announce that the application of functional Kenneth Mather Memorial winner of the 2009 medal is genomic tools in the post- Prize". Professor Stephen Brown genomic era. Steve is perhaps most closely FMedSci, MRC Mammalian identified with the large-scale mouse ENU Nominations will be assessed Genetics Unit, Harwell. Steve mutagenesis programme at Harwell. This project by a panel of two people with is internationally recognised was designed to identify mutations in genes that experience in the area of for his seminal contributions to produced disease phenotypes, which could be quantitative/population mouse and mammalian exploited in order to learn about the basis of genetics, one from the genetics, and he has been one of human disease. To this end, Steve’s research University of Birmingham and the driving forces behind the group has successfully identified and studied the the other nominated by the UK development of the MRC developmental genetics of gene mutations Genetics Society. Decisions Harwell site, where he is underlying hearing loss in humans. will be announced in December currently director. Steve has each year. 12 . GENETICS SOCIETY NEWS . ISSUE 59
  13. 13. GENETICS SOCIETY BUSINESS 13 Presidents Recognised We are happy to report on the international recognition the current and past presidents of the Genetics Society have recently enjoyed: Brian Charlesworth Prof. Michael Ashburner Prof. Alex Jeffreys Current society president Prof. The Genetics Society of America Another past president, Prof Alex Jeffreys, Brian Charlesworth, Edinburgh has awarded the Thomas Hunt has been selected as one of the four final University, has received the Morgan Medal to past president, nominees for the Millennium Technology Weldon Memorial Prize, awarded Prof. Michael Ashburner, Prize, a very prestigious Finnish award that by the University of Oxford to University of Cambridge. The recognises innovators who contribute to recognise the most noteworthy medal recognises lifetime improvements in quality of life. The final contributions to the development contributions in the field of result should be available by the time you of mathematical or statistical genetics. get the newsletter and is available at: methods applied to biological www.millenniumprize.fi/ problems. Postgraduate Representative uring the 2008 spring BSDB and BSCB in Edinburgh as principal investigators or a postdocs. This D meeting of the Genetics Society I was elected to the in spring 2007, the Genetics Society wishes continue its kind of interaction is of vital importance for students who have to consider their future position of postgraduate engagement in organising careers. representative for the Genetics postgraduate symposia, Society. During my two-year workshops and social events; Furthermore, we hope that Promega will tenure I will be aiming to perhaps extending their scope continue to sponsor awards for young scientists strengthen the involvement of by organising meetings with to mark their excellence in postgraduate the Genetics Society in the academic staff at different research much in line with the 2008 Young issues of postgraduate students stages of their scientific Geneticist of the Year Award competition. The to help young scientists activelycareers. I believe providing Genetics Society would like to be involved in participate in scientific opportunities for students to selecting finalists for such competitions. meetings, symposia and meet junior postdocs, principal conferences. On this occasion I investigators setting up their We are also happy to consider applications for would like to outline the laboratories and senior support in organising student events at scientific strategies for the near future. members of academia in a meetings at conferences, not necessarily friendly environment will make organised by the Society. Such applications and Following the positive feedback students feel they can ask other suggestions for ways in which the Genetics from students after the questions about their specific Society could support students should be workshops and the social event project, future job opportunities directed to me, the postgraduate students’ organised during the joint in other labs, or simply how representative, in the first instance meeting of the Genetics Society, they feel about their positions (s0454833@sms.ed.ac.uk). Tom Nowakowski. www.genetics.org.uk . 13
  14. 14. GENETICS SOCIETY BUSINESS 14 Heredity News joint venture by NPG Engledow, RA Fisher, EB Ford, A The first article in the and The Genetics A Greenwood, JBS Haldane, J first issue of Heredity summarises the genetic Society has just Hammond, H Hunter, TJ research at UK completed scanning all of the Jenkin, DE Lea, K. Mather, LS institutions. back issues of the Societies’ Penrose, RR Race, W Robb, CH journal, Heredity. These are Waddington) and is well worth now all freely available from perusing to see the state-of-the- the Journal Web Site art at the time. There are many (http://www.nature.com/hdy/i fabulous papers in the archive, ndex.html) as fully searchable a few that caught my eye from PDF files. This is an excellent the early issues include: The resource for the community Genetic Component of and encompasses some of the Language by Cyril Darlington Hardey and EB Ford was most vibrant research in UK (1: p269), Problems in Microbial particularly entertaining). genetics. The very first Genetics by Joshua Lederberg Overall the quality of the article, Genetic Research in (2: p145), Morphism and scanning is very good, a few Britain 1939 – 1945. (1047) Evolution by Julian Huxley (9: pages I examined are at a slight Heredity 1: 1-17, provides an p1) and On the Change in angle, but as I mention above, overview of genetic research Population Fitness by Natural all the text is fully searchable. during the war years via a Selection by Motoo Kimura (12: Just search the journal site for series of abstracts from a 1945 p145). Along with these and your favorite genetic term or Genetical Society conference. many more fascinating papers author and revel in these The contributor list reads like there are some very interesting classic papers. the cast list of Giants in book reviews (a review by Peter Genetics – (DG Catcheside, MB Medewar of Evolution as a Crane, CD Darlington, F Process edited by J Huxley, AC This is an excellent resource for the community and encompasses some of the most vibrant research in UK genetics. 14 . GENETICS SOCIETY NEWS . ISSUE 59
  15. 15. GENETICS SOCIETY BUSINESS 16 News From The Biosciences Federation www.bsf.ac.uk Steve Russell . University of Cambridge n important new With the IoB currently representing individual A development for UK bioscience comes with the scientists and the BSF more focused on organisations, joint announcement by the Biosciences Federation and the the proposed new body will provide a broad platform Institute of Biology that they are working together with the for representing Biosciences on the political stage. aim of joining forces to form a single body representing environmental problems such Activities include reports on British biology. With the IoB as the consequences of climate open access publishing, currently representing change. Constructively systematics and taxonomy, individual scientists and the engaging with both the public genomic medicine, the research BSF more focused on and politicians. Assessing the excellence framework and organisations, the proposed provision of adequate biosecurity. new body will provide a broad resources for life sciences platform for representing research, especially in Nominations are being Biosciences on the political emerging areas where new accepted for the 2008 BSF stage. Both organisations are tools and skills are essential. Science Communication consulting their respective Exploring how biology Awards for research-active memberships to ensure broad education from the schoolroom scientists who make support for the proposed to the workplace can be outstanding and consistent merger and it is hoped that the effectively structured. Figures contributions in the area of new organisation will come from industry and biological public science communication. into being next year. Society science funding bodies are There are two categories: one Presidents Prof. Raymond supportive of the proposal and for young scientists, PhD or Dwek (IoB) and Prof Dame believe that biology will benefit masters students or graduates Nancy Rothwell (BSF) set out from a unified voice in policy with less than a year of some of the key challenges forums. postdoctoral experience and that face the biosciences in the one for established researchers. 21st Century at a meeting held The BSF continues its policy Nominations close of the 24th at the Royal Society in May. work in a variety of areas, August 2008, with the prizes These include: maximising the responding to a range of awarded in November this year. social and economic benefits of consultation exercises and The nomination form can be new discoveries and their input can be accessed at obtained at the BSF website. addressing challenging the BSF website (www.bsf.ac.uk). 16 . GENETICS SOCIETY NEWS . ISSUE 59
  16. 16. GENETICS SOCIETY BUSINESS 17 Promega Young Geneticist of the Year s we announced in the last Dr Paul Glands of Promega A Newsletter, the Promega Young Geneticist of the Year presented their awards. The winner, Carol Anne Edwards competition was judged at the gave a talk on her work at the 18th Mammalian Genetics and meeting and we present an Development Workshop last abstract of her fascinating November. The winner and investigations into the runners-up were invited to the evolution of Genomic Genetics Society Epigenetics imprinting here. meeting this May where Carol Anne Edwards delivers her talk at the Epigenetics meeting (right) The Evolution of Genomic Imprinting: A comparative analysis of the DLK1/DIO3 domain in extant vertebrates. Carol Anne Edwards . Department of Physiology, Development and Neuroscience, University of Cambridge Genomic imprinting is a mammals. This theory process by which certain predicts that oviparous mammalian genes are monotremes will not imprint expressed from only one but viviparous marsupials will. parentally inherited copy, with The DLK1/DIO3 cluster the other allele being (approximately 1 million base repressed. Imprinted genes pairs long) is ideal for therefore lose the advantages investigating the evolution of that diploidy provide against imprinting as all of the protein recessive mutations. This has coding genes within the cluster led to much speculation on are expressed in the placenta, how and why imprinting including a gene related to a Carol Anne Edwards delivers her talk at the Epigenetics meeting evolved. Functional data Ty3-gypsy retrotransposon, indicates that genomic RTL1. In addition, this region imprinting arose alongside contains many functionally placentation in therian significant genomic features www.genetics.org.uk . 17
  17. 17. GENETICS SOCIETY BUSINESS 18 such as differentially expression and epigenetic methylated regions (DMRs), analysis in platypus and long non-coding RNAs (GTL2), wallaby suggest the paternal small functional RNAs (C/D chromosome in eutherians is snoRNAs and microRNAs) and most similar to the ancestral antisense transcripts. DLK1/DIO3 region. The DLK1/DIO3 imprinted The snoRNA and microRNA domain was mapped and clusters in the domain were sequenced in a marsupial shown to be eutherian specific, (tammar wallaby) and causing a region of relative monotreme (platypus). DLK1 expansion in these species, and DIO3 genes were identified whereas one specific eutherian in both species and found to be region was resistant to biallelically expressed. expansion. A full length GTL2 Imprinted expression of genes gene was not identified in non- within this region is therefore eutherian species but a restricted to the eutherian number of expressed lineage. A seven way evolutionary conserved regions comparative sequence analysis show that this long ncRNA of the entire DLK1/DIO3 region gene is present in non- in chicken, platypus, wallaby, eutherians. A region opossum, dog, mouse and orthologous to the human was performed. retrotransposon like gene, Results indicate that genomic RTL1, was identified in both signatures previously marsupials, but not in platypus associated with imprinting or chicken. In marsupials the clusters i.e. SINE depletion and RTL1 gene lacks an open From top: Promega Representative Dr Paul increased GC content, were reading frame and is not Glands presents the winners with their awards: only associated with the expressed. This indicates that, imprinted eutherian in marsupials, RTL1 did not 1st prize Carol Ann Edwards DLK1/DIO3 region, suggesting gain a function (or lost it) and (The Department of Physiology, Development these features evolved in the the sequence diverged. Hence, and Neuroscience, University of Cambridge) region alongside the in eutherians RTL1 has evolved acquisition of imprinting. The into a new gene with a 2nd prize Christina Marques IG-DMR, the imprinting function in placentation, an (University of Porto, Portugal) control region for the domain, event that may have driven the is not present in non-eutherian evolution of imprinted 3rd prize Paris Veltsos species. Comparative expression within the region. (Queen Mary University, London) References Edwards, C.A. & Ferguson-Smith, A.C. (2007) Mechanisms regulating imprinted genes in clusters. Curr Opin Cell Biol, 19: 281-289. Edwards, C.A., Rens, W., Clark, O., Mungall, A.J., Hore, T., Marshall Graves, J.A., Dunham, I., Ferguson-Smith, A.C. & Ferguson-Smith, M.A. (2007) The evolution of imprinting: chromosomal mapping of orthologues of mammalian imprinted domains in monotreme and marsupial mammals. BMC Evol Biol, 7: 157. 18 . GENETICS SOCIETY NEWS . ISSUE 59
  18. 18. 19 GENETICS SOCIETY MEETING REPORTS The Genetics Society Spring Meeting Frontiers in Epigenetics Saturday 10 May 2008, John Innes Centre, Norwich. Mary Byrne . John Innes Centre and Irina Stancheva, University of Edinburgh he 2008 Spring Meeting of viruses and potentially harmful However, work on Tobacco T the Society was centred on epigenetics and served to highlight the multiple transposons is possibly an evolutionarily ancient role of gene silencing pathways. While rattle virus (TRV) provides a hint on resilience of the meristem to virus infection. and often interconnected plants have evolved silencing TRV invades the meristem but mechanisms involved in diverse mechanisms for defence, fails to propagate in these cells organisms. The term viruses correspondingly encode due to silencing by small RNAs. epigenetics refers to changes in proteins that inactivate key This silencing potentially gene expression that are stable components of plant silencing establishes an epigenetic state between cell divisions, and pathways. One of these virus in daughter cells, thereby sometimes between proteins is an F-box protein, limiting virus spread to organs generations, but do not involve which mediates degradation of initiating from the meristem. changes in the underlying DNA the key small RNA effector sequence of the organism. ARGONAUTE1 protein. The While small RNA pathways are Heritable non-sequence based precise protein degradation an important part of pathogen changes are most often thought mechanism remains to be and genome defence they also to involve modification of DNA elucidated, but clearly differs contribute to many or chromatin and, in recent from the typical proteosome developmental processes in years, there has been much pathway conferred by many F- plants and animals. Scott progress on how these box proteins. On the plant side, Poethig (University of modifications are established one mechanism of defence Pennsylvania) described work and maintained. Mechanisms against systemic virus infection on heterochronic development of epigenetic inheritance also is exclusion from the shoot or phase change in Arabidopsis. involve RNA either indirectly apex or meristem, which Many targets of microRNAs through chromatin harbours the stem cell encode developmental modification and have also been population essential for regulatory proteins so isolation proposed as heritable units continued generation of new of mutants affecting phase potentially directly imparting organs and for growth of the change has lead to the cellular memory. plant. The mechanism of this identification and functional exclusion has remained elusive. characterization of key The meeting started with a presentation by David Heritable non-sequence based changes are most often Baulcombe (University of Cambridge) on small RNA thought to involve modification of DNA or chromatin pathways in plants and the role these regulatory elements have and, in recent years, there has been much progress on in defence against virus infection. Suppression of how these modifications are established and maintained. www.genetics.org.uk . 19
  19. 19. GENETICS SOCIETY MEETING REPORTS 20 components of small RNA challenging problem. Vincent marsupial and monotreme mammals (see the pathways, including small RNA Colot (CNRS) discussed a previous article). We had two further talks on binding Argonaute proteins. system to address these genomic imprinting in mammals, focusing on Phase change involves questions. A well known gene basic mechanisms involved in the regulation of successive expression of two in Arabidopsis, DDM1, is imprinted loci, establishment and maintenance different microRNAs: down required to maintain of DNA methylation at differentially methylated regulation of the corresponding methylation states of control regions (DMRs) and the importance of target genes mediate the heterochromatin but is also these mechanisms in embryo development and transition from juvenile to known to influence methylation understanding human disease. Ann Ferguson- adult phases of growth. of some euchromatin. The Smith (University of Cambridge) highlighted the Targets of early expressed ddm1 mutant is being used to significance of differentially methylated miR156 are the SPL gene generate recombinant inbred imprinted regions and non-coding RNAs in family. Surprisingly, all 10 SPL lines that enable a test for regulating the monoallelic expression of genes in family members vary possible stable imprinted clusters. She focused on an exciting considerably in size but all have multigenerational inheritance new discovery indicating that a KRAB family retained miR156 target sites of chromatin changes. zinc-finger protein Zfp57 is involved in and individual genes from Phenotypic variation across maintenance of maternal and paternal DNA different clades still modulate these lines provides a means for methylation imprints in the early cleavage mouse phase change indicating an identifying epigenetic changes embryos. Although the precise mechanism of essential role for SPL genes in that impact on plant growth Zfp57 function is unknown (Zfp57 deficiency is his process. SPL genes through quantitative trait maternal effect lethal), a hypothesis was put positively regulate late analysis. Furthermore, forward that Zfp57 might recruit DNA expressed miR172 and down analysis of methylation states methyltransferases enzymes in order to actively regulation of AP2-like targets after multiple generations maintain DNA methylation at imprinted regions of miR172 are needed for following ddm1 induced during the embryonic stages when most of the transition to adult growth. demethylation is identifying genome undergoes a wave of global Components of this pathway regions of heterochromatin demethylation. act in phase transition in maize that are remethylated and indicating conservation across regions that are not readily Marisa Bartolomei (University of Pennsylvania) broad land plant lineages. By remethylated suggesting presented recent work from her lab dissecting the analogy, progressive distinct mechanisms act to function of the insulator protein CTCF in oocytes maturation of Caenorhabditis maintain genome-wide and early preimplantation embryos. CTCF has elegans through juvenile to integrity. an important role in regulating enhancer activity adult phases of growth is also and DNA methylation at the imprinted Igf2/H19 regulated by successive In animals, epigenetic locus and provides a platform for binding of the expression of microRNAs, so mechanisms are involved in a cohesin complex. Ablation of the maternal pool possibly this is a common variety of biological of CTCF in oocytes, by Zp3 promoter- driven theme in eukaryote life cycle phenomena such as regulation shRNA, led to early embryonic lethality possibly progression. gene expression, genomic caused by delay in zygotic gene activation, imprinting, X-chromosome biallelic expression of imprinted genes and While we now have a handle on inactivation in placental chromosome segregation defects. A more many genes involved in mammals and maintenance of general downregulation of gene expression was establishing epigenetic states genome architecture. After observed in CTCF depleted oocytes, indicating an important question is Carol Edwards (University of that CTCF may have an important role in whether epigenetic changes are Cambridge), the recipient of the regulation of gene expression by bringing the of adaptive significance. Promega Young Geneticist of enhancers and promoters in close proximity. Identifying epigenetic changes the Year Award, presented her in natural populations and work on the comparative The function of CTCF as well as insulator and understanding the significance analysis of the imprinted Dlk- silencer elements dominated the talk by Rob of these changes is a Dio3 gene cluster in eutherian, White (University of Cambridge). His lab, in 20 . GENETICS SOCIETY NEWS . ISSUE 59
  20. 20. GENETICS SOCIETY MEETING REPORTS 21 collaboration with Steve that Xist RNA and Polycomb Russell and co-workers, has group proteins are dispensable recently published a high- for initiation but are essential resolution map of CTCF for maintenance of imprinted binding over several large X-inactivation in the mouse regions of Drosophila genome, embryo. This raises the including the Hox loci. Rob question of what is the highlighted the importance of mechanism and factors CTCF enhancer blocking involved in the initiation of activity and CTCF-mediated imprinted X-inactivation. establishment of chromatin boundaries at the Abdominal B These chromosome studies locus for body patterning were complemented by during Drosophila development. impressive genome-wide An interesting interplay analyses of chromatin-nuclear Genetics Society President Brian Charlesworth introduces the 2007 between Polycomb group lamina interactions in Balfour Lecture delivered by Miltos Tsiantis, Department of Plant Sciences, University of Oxford proteins and CTCF was also Drosophila and human cells observed at these loci presented by Bas van Steensel suggesting that in some (Netherlands Cancer Institute). instances Polycomb binding His lab is using the Dam-ID may be irrelevant for the technique to map protein conversion of this energy into growth through activity of a nearby gene but interaction sites on DNA. photosynthesis. A remarkable feature of these could have an impact on a more When applied to human lamin specialized organs is the variety and variation in distal one by inactivating an B and Emerin proteins, the form. Tsiantis described research aimed at enhancer element. Thus long- mapping revealed that large, understanding how this variation may arise and range enhancer-promoter several megabase in length, this is being addressed through comparisons of interactions in Drosophila, and regions of the genome depleted genetic regulation of leaf form in the simple leaf probably other systems, are of genes and active species Arabidopsis and the close relative likely to be regulated in a transcription associate with the Cardamine hirsuta, which has a compound leaf. complex manner by insulator nuclear periphery. An The lobes in the compound leaf of Cardamine proteins and Polycomb interesting feature of these appear to originate from the marginal of the leaf, complexes. lamina-associated domains in a region long thought of as comprising a (LADs) is that their sharp marginal meristem. One component that is Terry Magnuson (University of boundaries are often marked required for Cardamine compound leaf formation North Carolina) gave perhaps with either CTCF binding sites involves a KNOX homeodomain protein, which is the most surprising talk of the or active gene promoters and confined to the meristem in the Arabidopsis meeting. He focused on the role CpG islands. It will be simple leaf but expressed in the Cardamine of non-coding RNA Xist and important to gain further compound leaf. Since functional studies can be Polycomb complexes in X- understanding of how these carried out in both species it has been possible to chromosome inactivation. He domains are established, demonstrate the likely importance of cis- presented data indicating that maintained and modified to regulatory regions in species-specific expression imprinted inactivation of allow transcription of LAD- pattern differences of one KNOX gene. Further paternal X chromosome (Xp) resident genes. work implicates a role for the hormone auxin initiates and proceeds normally together with KNOX genes in sculpting leaf in mouse embryos inheriting The final talk of the meeting shape. Tractable genetic and genomic resources Xp devoid of Xp Xist RNA as was the Balfour Lecture in Cardamine, such as the isolation of novel well as in the absence of PRC2 presented by Miltos Tsiantis compound leaf mutants, are providing a wealth complex and accumulation of (University of Oxford). The of opportunity to further understand the histone H3K27 methylation on plant leaf is an organ molecular basis for species variation in leaf the inactive Xp. He proposed specialized for light capture and development. www.genetics.org.uk . 21
  21. 21. GENETICS SOCIETY SPONSORED EVENTS 22 1st Mammalian Genetics, Development and Disease Meeting 29th June 2007, School of Biosciences, Cardiff University Rosalind John . School of Biosciences, Cardiff University his purpose of this meeting embryonic stem cells, which conservation programs have T was to promote the exchange of ideas and have created new routes to experimental mammalian been successful and where DNA profiling has produced more information between genetics and functional accurate estimates of giant researchers working primarily, genomics. He also discussed panda population numbers. His but not exclusively, on the impact that genome unique contribution to this mammalian genetics, sequencing projects have had meeting was greatly development and disease. We on fields as diverse as cancer, appreciated by all attendees aimed to attract early-career neurobiology and human with many individuals researchers working on genetic disorders. He finished commenting on how his talk mammals from all over the UK by saying that, despite huge emphasised the global but with a particular focus on advances in research, we still consequences of advances in those located in the South West have a long way to go before modern genetics techniques. of England and Wales, where unravelling the complexity of no such opportunity currently The first talk of the day was the genome and the epigenetic existed. The format was based events that regulate its from Vicki Marsh, a third year on the Mammalian Genetics function. PhD student with Alan Clarke and Development Workshop at Cardiff, who spoke about her with presentations from early The Keynote Speaker of the day work on the role of Pten in the researchers, postdoctoral was Mike Bruford whose intestine. She eloquently fellows and PhD students. We interests encompass molecular outlined the complex strategy advertised this meeting ecology, conservation genetics that allowed her to study the through the Cardiff university and evolutionary biology. He consequences of conditional website, by sending flyers to spoke passionately about the loss of expression of Pten in the University head of departments alarming depletion of genetic mouse intestine in the context and by direct emailing of resources throughout the world of Apc deficiency. This leads to colleagues. and the research being carried the rapid development of out orientated towards applying adenocarcinoma and she The meeting was opened by Sir molecular genetics to preserve proposed that Akt might be a Martin Evans, Director of the endangered species. He gave potential therapeutic target in School of Biosciences, Professor one compelling example of the this process. The next talk was of Mammalian Genetics of dramatic collapse of the orang- from Ben Colleypriest, a first Cardiff University and recipient utan population in Borneo that MPhil/PhD research student of the Nobel Prize in has been linked to human with Vasanta Subramanian Physiology or Medicine in 2007. activity and outlined the from the Department of In his introduction, Martin genetic strategies that are Biology and Biochemistry at outlined the some of the being undertaken to ensure Bath University who presented fundamental developments, that these unique animals his work on an in vitro model of including the discovery and survive and prosper. He also Barrett’s oesophagus and the modification of mouse gave an example of characterisation of Cdx2 22 . GENETICS SOCIETY NEWS . ISSUE 59
  22. 22. GENETIC SOCIETY SPONSORED EVENTS 23 expression. Staying with the Daniela Riccardi’s group in spoke about a novel splice cancer theme, we heard a talk Cardiff. She presented variant of VEGF which from Anthony Dallosso, a preliminary results from the intriguingly acts as an anti- postdoctoral fellow at Bristol CaR knock out mouse and angiogenic isoform in contrast University with Keith Brown, elegantly illustrated the use of to the more commonly known who discussed the use of ex-plant material in the variant of VEGF which is methylated DNA analysis of this key angiogenic. immunoprecipitation to developmental process. identify targets of DNA The final talk of the day was methylation in paediatric We had a number of talks from from Anthony Isles, a recent cancer. After an unexpected Cardiff-based groups using recruit to the Department of interruption by a fire alarm, we mammalian systems to Psychological Medicine at then heard two talks in the investigate and model Cardiff, who discussed the stem cell theme. Susan Hunter, neurological disorders evolutionary role of genomic a long time associate of Martin including Alzheimer’s (Mariah imprinting. Although Evans, presented her recent Lelos and Amy Reichelt from commonly thought to be work describing the microarray Mark Good’s group), involved predominantly in analysis of the transcriptome of Huntington’s disease (Mia regulating embryonic growth, embryonic stem cell lines in Deschepper from Lesley Jones’ recent work suggest that many comparison with material group), Schizophrenia (Anne imprinted genes also play a role isolated from the inner cell Kirtley from Kerrie Thomas’s in post natal development mass of the developing embryo group), Frontotemporal including influencing risk at different time points. E4.5 is Dementia (Trevor Humby) and taking behaviour. a traditional time point at also Amyotrophic Lateral which stem cells are derived Sclerosis (Ben Crabtree, Bath) Prizes of £75 were awarded to but she found that ES cells reflecting the relative Brenda Meinhardt and Anthony most resemble the E5.5 concentration of expertise in Dallaso before the meeting embryonic ectoderm. Alysia behavioural and basic ended in a wine reception Battersby, a postdoctoral fellow neuroscience at the meeting kindly funded by GRI. with Nick Allen in Cardiff, then both at the whole organism described the potential of using level and the molecular level. This first meeting in Cardiff human ES cells in replacement covered the full breadth of therapy, with a specific focus on At the beginning of the research in Genetics from the directed differentiation into meeting Martin Evans spoke molecular analysis of a single forebrain precursors using a about the complexity of the mRNA molecule to number of techniques mammalian genome. Although investigation of the genetic including engineering we may now know the DNA profile of planet Earth. We had transgenic hESCs to carry sequence, we still need to presentations from students in fluorescent reporter genes for unravel the complexities of the the first year of their PhD to FACs sorting. We then had a genome. This was nicely one from the Nobel Prize presentation from Simon illustrated by two talks on RNA winner, Martin Evans. We Tunster, a second year PhD splicing. Shane Wainwright hope, in future years, to student in my group describing (Cardiff) spoke about his work maintain the calibre of these our mouse model of placental on an alternative splice variant meeting with continued insufficiency in which foetal of ADAMTS4 present in human support from The Genetics programming may be studied. patients with osteoarthritis Society, The Company of The role of the extracellular while Dawid Nowak, a Biologists, Cardiff School of calcium sensing receptor in postdoctoral fellow with David Bioscience, Wales Gene Park lung branching was discussed Bates, University of West and GRI. by Brenda Reinhardt from England and Bristol University, www.genetics.org.uk . 23
  23. 23. GENETIC SOCIETY SPONSORED EVENTS 24 A Triple Helix Meeting: Who Owns My Genome? 20th February 2008, University of Cambridge Harsh Bhatt . The Triple Helix, Cambridge ith the ever-increasing PHG Foundation. Technology W advances in gene technology and a society with journalist and author, Glyn Moody, discussed how perhaps more individualism in translating the genetic its manner than ever before, the information from an analogue prospect of personal genome version (within our cells) to a sequencing is one that is digital one (via sequencing) David Summers of the Genetics Department neither too remote, nor the could enable us to ‘google’ our in Cambridge (standing) chairs the Triple Helix Meeting easiest to ignore. Who then own genome. Furthermore, should have access to this with the seemingly exponential information, how may it be rise in information storage used and what are the ethical efficiency, a suggested view of implications? Thanks to the the future included people support of The Genetics sporting wristbands with Society, The Triple Helix microchips containing their Cambridge were able to debate personal genetic information, these questions and more in - making it possible to do a quick “Hands Off My Genes: The check for any abnormal ethics and implications of genotype in a potential partner. personal genome sequencing”, But what, as was asked, would The audience were keen to explore issues relating to genetic confidentiality. where a panel of experts we say is the ‘right time’ for attempted to address a few of such information to be these issues surrounding the exchanged – before deciding to our genetic data to assess our subject. have children, prior to marriage candidacy. Moreover, with or indeed on the first date? genomics now being sold as not The Triple Helix is an just a medical tool but also a international undergraduate- Finally, Harald Schmidt, lifestyle choice in itself, some run organisation that aims at Assistant Director at the healthy scepticism about its promoting an open forum for Nuffield Council on Bioethics, scope and applicability is all students as well as the wider brought into focus the ethical but natural. However, the public to explore the issues surrounding personal panel were unanimous in interdisciplinary issues genome sequencing, amongst concluding that when it comes surrounding science and these being the idea of ‘the to our own personality and society. right to not know’ when it came identity, no genome alone could to incurable diseases, and map out one’s sense of humour Setting the scene by proposed how varied our own or indeed their love for science introducing what information responses to such a concept and following a query can be obtained through these might be. regarding the implications of genetic tests in the first place, tracing geographical genetic and how it may be applied, were With the discussion then open origins to explicate one’s own Andrew Read, Professor of to the floor, a highly volatile cultural background, the Human Genetics at the topic emerged in the idea of evening ended with a reminder University of Manchester and insurance companies and of there being “no definite test Dr. Caroline Wright from the potential employers requesting for Welshness”…! 24 . GENETICS SOCIETY NEWS . ISSUE 59
  24. 24. 25 FEATURES A Taxi Driver Writes... The personal genome: whose DNA is it anyway? Andrew Grierson . Academic Neurology Unit, School of Medicine and Biomedical Sciences, University of Sheffield populations for attributing What is the genetic risk factors in personal polygenic diseases such as diabetes and heart disease. In genome? these cases it is suggested that this balance of science and The landmark publication of society is for the general good: the first draft of the human there is genetic solidarity genome sequence in 2001 amongst the study population, heralded a new beginning in and by working together they human genetics: the post might eventually help genome era. Three complete themselves by developing genome sequences later, in 2008 preventative measures or we are on the verge of the 1000 treatments for the diseases genome project and the $1000 prevalent in their societies. genome. These developments offer the most exciting The rest of the world generally opportunities for human lives in genetically admixed genetics: to identify and populations, so can we learn investigate genetic variation in more about human diseases, all of us, with the power to our evolution and origins from correlate genome-wide studying their genetics? The genotype data with human answer from a number of disease phenotypes. perspectives would seem to be Personalised genome data is yes. George Church, of Personalised already available from a Harvard University, was an number of commercial early adopter of DIY Genetics. healthcare or laboratories, for around $1000, He predicted that a personal modern day but does this raise more genome project would be questions than it is likely to beneficial to society, and snake oil? answer? advocated a policy of openness when sharing individuals’ A number of companies The power of studying human genome sequence data. In the including Decodeme, 23andme genetics in disease risk past 12 months a number of and Navigenics offer genome- association studies is well commercial genomics wide SNP-chip analysis for understood. It is exemplified by companies have emerged, but about $1000. In addition, a host the work conducted in Iceland will they help realise the of other companies offer and other genetically isolated predicted benefits? specific genetic risk tests, www.genetics.org.uk . 25
  25. 25. FEATURES 26 distinct from those diagnostic General practitioners may be increasingly confronted by tests used by hospitals and clinics for diagnostic purposes. patients arriving with the results of a whole genome Genome-wide analysis is currently offered without any scan in their hand, asking what clinical intervention is legislative regulation, on the grounds that the service is on offer since they have a 10 fold increased risk of educational not medical. However on the websites of two developing Alzheimer’s Disease. of these companies there are tools for ascribing an individual’s genetic risk of this issue, both 23andme and reliable, as they are not subject developing a range of common Decodeme were clear in saying to the same rigorous quality diseases such as Rheumatoid that the SNP data could best be control as diagnostic tests. Arthritis and Diabetes. These used as an indication of risk, Second, the clinical validity of tools carry specific disclaimers and thus the early uptake of an genetic associations is largely such as: “While the Odds established clinical diagnostic in a constant state of flux, they Calculator is neither a medical test. In many diseases the best are active areas of research diagnostic nor a substitute for clinical outcomes are rather than diagnostic aids. medical advice, it can help you associated with early diagnosis. Third, the use of genetic data confront the bewildering array It should be noted that we in clinical practice, in terms of of health news reported in the needn’t understand the the risk or benefit to the mass media and help you decide mechanistic basis for a genetic individual, is questionable. where you may want to focus association for it to be a valid Although there is often data your attention” on the 23andme indicator of increased risk of supporting beneficial effects of webpage. Given that these may disease. diet or lifestyle change for be polygenic disorders it seems disease prevention, these unlikely that SNPs are If uptake of such personal studies are not usually currently sufficient to genetics services increases, as it conducted in a genetically accurately predict risk in more surely will, there is likely to be defined ‘at risk’ population. than a subset of people. Of greater need for genetic course a human geneticist counselling. General Ethical issues are also raised- might be able to understand the practitioners may be does the recipient of an nature of an odds ratio, but increasingly confronted by increased or decreased risk without expert guidance on patients arriving with the have a duty to warn his family hand, it is clear that risk results of a whole genome scan members of the result? How information obtained in this in their hand, asking what should this be approached? way could be misleading. While clinical intervention is on offer Will it have any effect on some may see this as little more since they have a 10 fold reproductive decision making? than a genetic horoscope, increased risk of developing These questions are the domain others have promoted these Alzheimer’s Disease. This of the genetic counsellor - but is services as an empowering highlights one problem of there a safety net in place? lifestyle choice, where marketing personalised Furthermore some people physician, scientist and genetics directly to the identified as having a decreased participant form a virtuous consumer, rather than via a genetic risk of disease might circle. The novelty of this medical practitioner. The New interpret this as a justification relationship is that the patient England Journal of Medicine to overindulge in a known gains a personal stake in the outlined three more problems environmental risk, such as ongoing scientific research with these tests in a recent drinking or smoking. effort. When approached on editorial: first the tests are not 26 . GENETICS SOCIETY NEWS . ISSUE 59