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Functional Effects Detailed Research Plan
GeCIP Detailed Research Plan Form Background The Genomics England Clinical Interpretation Partnership (GeCIP) brings together researchers, clinicians and trainees from both academia and the NHS to analyse, refine and make new discoveries from the data from the 100,000 Genomes Project. The aims of the partnerships are: 1. To optimise: • clinical data and sample collection • clinical reporting • data validation and interpretation. 2. To improve understanding of the implications of genomic findings and improve the accuracy and reliability of information fed back to patients. To add to knowledge of the genetic basis of disease. 3. To provide a sustainable thriving training environment. The initial wave of GeCIP domains was announced in June 2015 following a first round of applications in January 2015. On the 18th June 2015 we invited the inaugurated GeCIP domains to develop more detailed research plans working closely with Genomics England. These will be used to ensure that the plans are complimentary and add real value across the GeCIP portfolio and address the aims and objectives of the 100,000 Genomes Project. They will be shared with the MRC, Wellcome Trust, NIHR and Cancer Research UK as existing members of the GeCIP Board to give advance warning and manage funding requests to maximise the funds available to each domain. However, formal applications will then be required to be submitted to individual funders. They will allow Genomics England to plan shared core analyses and the required research and computing infrastructure to support the proposed research. They will also form the basis of assessment by the Project’s Access Review Committee, to permit access to data. -
Diversity Data Report 2019 Diversity Data Report 2019 Issued: November 2020 DES6507
Diversity data report 2019 Diversity data report 2019 Issued: November 2020 DES6507 The text of this work is licensed under the terms of the Creative Commons Attribution License which permits unrestricted use, provided the original author and source are credited. The license is available at: creativecommons.org/licenses/by/4.0 Images are not covered by this license. This report can be viewed online at: royalsociety.org/diversity Contents Introduction .....................................................4 The Fellowship ..................................................11 Committees, panels and working groups ..........................19 Research Fellowship Grants ......................................26 Scientific programmes ...........................................38 Public engagement .............................................50 Publishing ......................................................62 Schools engagement ............................................67 Royal Society staff ..............................................72 Gender pay gap .................................................75 Definitions .....................................................77 DIVERSITY DATA REPORT 2019 3 Introduction The Royal Society is a Fellowship of many of the world’s most eminent scientists and is the oldest scientific academy in continuous existence. The Society is committed to increasing sections of this report such as organisers, diversity in science, technology, engineering chairs and speakers at scientific meetings, and mathematics (‘STEM’) -
Towards Therapy for Batten Disease
Towards therapy for Batten disease Mariana Catanho da Silva Vieira MRC Laboratory for Molecular Cell Biology University College London PhD Supervisor: Dr Sara E Mole A thesis submitted for the degree of Doctor of Philosophy University College London September 2014 Declaration I, Mariana Catanho da Silva Vieira, confirm that the work presented in this thesis is my own. Where information has been derived from other sources, I confirm that this has been indicated in the thesis. 2 Abstract The gene underlying the classic neurodegenerative lysosomal storage disorder (LSD) juvenile neuronal ceroid lipofuscinosis (JNCL) in humans, CLN3, encodes a polytopic membrane spanning protein of unknown function. Several studies using simpler models have been performed in order to further understand this protein and its pathological mechanism. Schizosaccharomyces pombe provides an ideal model organism for the study of CLN3 function, due to its simplicity, genetic tractability and the presence of a single orthologue of CLN3 (Btn1p), which exhibits a functional profile comparable to its human counterpart. In this study, this model was used to explore the effect of different mutations in btn1 as well as phenotypes arising from complete deletion of the gene. Different btn1 mutations have different effects on the protein function, underlining different phenotypes and affecting the levels of expression of Btn1p. So far, there is no cure for JNCL and therefore it is of great importance to identify novel lead compounds that can be developed for disease therapy. To identify these compounds, a drug screen with btn1Δ cells based on their sensitivity to cyclosporine A, was developed. Positive hits from the screen were validated and tested for their ability to rescue other specific phenotypes also associated with the loss of btn1. -
CLN7 Disease, Variant Late-Infantile
There are grants and funds available to ensure that the work groups and individuals to help with the challenges that will involved is affordable. An occupational therapist will consult be faced is important. This support extends to wider family on all aspects of any adaptations and assist the family in members. There are several options to consider should undertaking this process. families wish to explore ways of maximising the limited time available to share with their children. Contacting a charitable CLN7 Disease, Variant Late-Infantile wish-granting organisation may lead to them being able to Will there be an impact on the child’s education? create some valuable and significant memories. Are there any alternative names? How are NCLs inherited? Education will continue to be important for the child and family Where can I get additional information and support? and there will be many aspects that require consideration and significant assistance from those around them. CLN7 disease, variant late-infantile may also be referred to Most forms of NCL are inherited as “autosomal recessive” The BDFA offers support to any family member, friend, as variant late-infantile CLN7 disease, alongside Variant Late disorders. This is one of several ways that a trait, disorder, The Children and Families Act 2014 came into force in professional or organisation involved in caring for a child with Infantile Neuronal Ceroid Lipofuscinosis; though was more or disease can be passed down through families. An September 2014. The introduction of the 0-25 Education, CLN7 disease or any other form of NCL throughout the UK. commonly known as Variant Late-Infantile Batten Disease. -
Molecular Basis of the Ncls
View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by Elsevier - Publisher Connector Biochimica et Biophysica Acta 1832 (2013) 1793–1794 Contents lists available at SciVerse ScienceDirect Biochimica et Biophysica Acta journal homepage: www.elsevier.com/locate/bbadis Preface Special issue: Molecular basis of the NCLs The neuronal ceroid lipofuscinoses (NCLs), often known as Batten well as providing links to the updated web-based NCL Mutation disease, are a group of rare and devastating neurodegenerative dis- and Family Databases. orders. They commonly affect children but can strike at any age, Bioinformatic approaches have become more sophisticated and from before birth up to late in life. They are genetic diseases, usu- used to advance research particularly in the areas of establishing the ally inherited in an autosomal recessive manner, and at present are genetic basis of disease in individual families and in predicting the incurable. molecular basis of NCL disease. These new and recent approaches in This special issue follows the latest international meeting on the NCL field are summarised by Kmoch et al. the NCLs—the 13th international congress, NCL2012 (http://www. A review on the clinical perspectives of the NCLs summarises fea- ncl2012.org)—which was held in March 2012 in London, United tures of the different NCLs, such as range of ages at onset and presenting Kingdom, and attended by a total of >150 clinical, scientificandpro- symptoms, and characteristics of progression (including involvement of fessional experts from around the world. There were 50 talks and organs outside the nervous system), together with a recently adopted 64 posters, and 2 outreach workshops for professionals. -
Report for International Society for Neurochemistry A
Small Conference Report for International Society for Neurochemistry a. Basic information (title of the meeting, dates, organizer, venue, etc.) 16th International Conference on Neuronal Ceroid Lipofuscinosis (Batten Disease) 12-16 September 2018, Royal Holloway University of London, Egham, London UK Scientific Organising Committee (SOC): Sara Mole University College London, London, UK, Chair Susan Cotman Harvard Medical School, Boston, USA Jonathan Cooper Harbor UCLA Medical Center, Los Angeles, USA Angela Schultz University Medical Center Hamburg-Eppendorf, Hamburg, Germany Alexander Smith University College London, London, UK Heather Band Batten Disease Family Association, Farnborough, UK Ruth Williams Guy’s and St Thomas’ Hospital, London, UK Emyr Lloyd-Evans Cardiff University, Cardiff, UK Jill Weimer Sanford Research, Sioux Falls, USA Juan Bolanos University of Salamanca, Salamanca, Spain Marco Sardiello Baylor College of Medicine, Houston, USA Margie Frazier Batten Disease Support and Research Association, USA Miriam Nickel University Medical Center Hamburg-Eppendorf, Hamburg, Germany Stephanie Hughes University of Otago, Dunedin, New Zealand Steve Gray University of Texas Southwestern Medical Center, Dallas, USA Thomas Wishart University of Edinburgh, Edinburgh, UK Wendy Heywood UCL Great Ormond Street Institute of Child Health, London, UK Logistics Planning Group (LPG): Prof Sara Mole University College London, London UK, Chair Dr Claire Russell Royal Veterinary College, London, UK Heather Band Batten Disease Family Association, -
EMBO Conference on Fission Yeast: Pombe 2013 7Th International Fission Yeast Meeting London, United Kingdom, 24 - 29 June 2013
Abstracts of papers presented at the EMBO Conference on Fission Yeast: pombe 2013 7th International Fission Yeast Meeting London, United Kingdom, 24 - 29 June 2013 Meeting Organizers: Jürg Bähler UCL, UK Jacqueline Hayles CRUK-LRI, UK Scientific Programme: Robin Allshire UK Rob Martienssen USA Paco Antequera Spain Hisao Masai Japan Francois Bachand Canada Jonathan Millar UK Jürg Bähler UK Sergio Moreno Spain Pernilla Bjerling Sweden Jo Murray UK Fred Chang USA Toru Nakamura USA Gordon Chua Canada Chris Norbury UK Peter Espenshade USA Kunihiro Ohta Japan Kathy Gould USA Snezhka Oliferenko Singapore Juraj Gregan Austria Janni Petersen UK Edgar Hartsuiker UK Paul Russell USA Jacqueline Hayles UK Geneviève Thon Denmark Elena Hidalgo Spain Iva Tolic-Nørrelykke Germany Charlie Hoffman USA Elizabeth Veal UK Zoi Lygerou Greece Yoshi Watanabe Japan Henry Levin USA Jenny Wu France These abstracts may not be cited in bibliographies. Material contained herein should be treated as personal communication and should be cited as such only with the consent of the authors. Printed by SLS Print, London, UK Page 1 Poster Prize Judges: Coordinated by Sara Mole & Mike Bond UCL, UK Poster Prizes sponsored by UCL, London’s Global University Rosa Aligué Spain Hiroshi Murakami Japan José Ayté Spain Eishi Noguchi USA Hugh Cam USA Martin Převorovský Czech Republic Rafael Daga Spain Luis Rokeach Canada Jacob Dalgaard UK Ken Sawin UK Da-Qiao Ding Japan Melanie Styers USA Tim Humphrey UK Irene Tang USA Norbert Käufer Germany Masaru Ueno Japan Makoto Kawamukai Japan -
Batcure Newsletternewsletter Autumnautumn 20172017 Welcome to the Second Batcure Newsletter
BATCureBATCure NewsletterNewsletter AutumnAUTUMN 20172017 Welcome to the second BATCure Newsletter. Our goal is to keep you informed about progress on the BATCure project and to provide an insight into the BATCure-funded research taking place at institutions across the European Union (EU). BATCure is a 3-year research project funded by the European Union’s Horizon 2020 Research and Innovation Programme that began in January 2016. The BATCure project consortium is comprised of fourteen institutions across the EU. These consist of ten leading scientific research groups, three companies and the Batten Disease Family Association (BDFA) who is leading part of the project and ensuring that the voice of patients and affected families is heard. Whilst BATCure focuses on the development of new therapies for CLN3, CLN6 and CLN7 diseases, it is hoped that the research results will ultimately be of benefit to patients with all forms of Batten disease. BATCure so far! Batten Disease Awareness Day – In August, the BATCure 18-month report was successfully submitted to the EU, and we are pleased to report that the project is in good shape as we reach the mid-way Friday 9th June 2017 point. Good progress has been made generating new models, tools and technologies in preparation for developing and testing emerging therapies. The BATCure consortium pulled together on Batten Disease The patient voice has also been represented with the BATCure Family Survey Awareness Day to help raise available online in 10 European languages from July to September 2017. The survey awareness of the disease across explored the perspective of EU families affected by all forms of Batten disease, Europe. -
Autumn 2005 SCIENCE in PARLIAMENT
Autumn 2005 SCIENCE IN PARLIAMENT State of the Nation Plastic Waste Private Finance Initiative Visions of Science Airbus Launches the New A350 The Journal of the Parliamentary and Scientific Committee http://www.scienceinparliament.org.uk THE STATE OF THE NATION 2005 An assessment of the UK’s infrastructure by the Institution of Civil Engineers PUBLISHED 18 OCTOBER 2005 About the Institution of Civil Engineers About the report As a professional body, the The State of the Nation Report For more information on the Institution of Civil Engineers (ICE) is compiled each year by a panel background to the State of the is one of the most important of civil engineering experts. The Nation Report, contact ICE sources of professional expertise report’s aim is to stimulate debate External Relations: in road and rail transport, water and to highlight the actions that supply and treatment, flood ICE believes need to be taken to t +44 (0)20 7665 2151 management, waste and energy – improve the UK’s infrastructure. e [email protected] our infrastructure. Established in It has been produced since 2000. w www.uk-infrastructure.org.uk 1818, it has over 75,000 members This year, six regional versions throughout the world – including of the State of the Nation Report – over 60,000 in the UK. covering Northern Ireland, Scotland, Wales as well as the North West, South West and West Midlands of England – are being produced, in conjunction with the UK-wide publication. To read the complete report please visit www.uk-infrastructure.org.uk Registered Charity No. -
Identification of a Novel Mutation of the Cln6 Gene
COPYRIGHT AND USE OF THIS THESIS This thesis must be used in accordance with the provisions of the Copyright Act 1968. Reproduction of material protected by copyright may be an infringement of copyright and copyright owners may be entitled to take legal action against persons who infringe their copyright. Section 51 (2) of the Copyright Act permits an authorized officer of a university library or archives to provide a copy (by communication or otherwise) of an unpublished thesis kept in the library or archives, to a person who satisfies the authorized officer that he or she requires the reproduction for the purposes of research or study. The Copyright Act grants the creator of a work a number of moral rights, specifically the right of attribution, the right against false attribution and the right of integrity. You may infringe the author’s moral rights if you: - fail to acknowledge the author of this thesis if you quote sections from the work - attribute this thesis to another author - subject this thesis to derogatory treatment which may prejudice the author’s reputation For further information contact the University’s Copyright Service. sydney.edu.au/copyright IDENTIFICATION OF A NOVEL MUTATION IN THE CLN6 GENE (CLN6) IN SOUTH HAMPSHIRE SHEEP AFFECTED WITH NEURONAL CEROID LIPOFUSCINOSIS Izmira Farhana Mohd Ismail A thesis submitted in fulfilment of the requirements for the degree of Doctor of Philosophy Faculty of Veterinary Science University of Sydney Australia February, 2015 SUMMARY Neuronal ceroid lipofuscinoses (NCL/Batten disease) are a group of fatal inherited neurodegenerative diseases that occur in many species including humans, sheep, dogs and cattle. -
Volume 2: Prizes and Scholarships
Issue 16: Volume 2 – Prizes, Awards & Scholarships (January – March, 2014) RESEARCH OPPORTUNITIES ALERT! Issue 16: Volume 2 PRIZES, AWARDS AND SCHOLARSHIPS (QUARTER: JANUARY - MARCH, 2014) A Compilation by the Research Services Unit Office of Research, Innovation and Development (ORID) December 2013 1 A compilation of the Research Services Unit of the Office of Research, Innovation & Development (ORID) Issue 16: Volume 2 – Prizes, Awards & Scholarships (January – March, 2014) JANUARY 2014 RUCE WASSERMAN YOUNG INVESTIGATOR AWARD American Association of Cereal Chemists Foundation B Description: Deadline information: Call has not yet been The American Association of Cereal Chemists announced by sponsor but this is the Foundation invites nominations for the Bruce approximate deadline we expect. This call is Wasserman young investigator award. This repeated once a year. award recognises young scientists who have Posted date: 12 Nov 10 made outstanding contributions to the field of Award type: Prizes cereal biotechnology. The work can either be Award amount max: $1,000 basic or applied. For the purposes of this Website: award, cereal biotechnology is broadly http://www.aaccnet.org/divisions/divisionsd defined, and encompasses any significant etail.cfm?CODE=BIOTECH body of research using plants, microbes, genes, proteins or other biomolecules. Eligibility profile Contributions in the disciplines of genetics, ---------------------------------------------- molecular biology, biochemistry, Country of applicant institution: Any microbiology and fermentation engineering are all included. Disciplines ---------------------------------------------- Nominees must be no older than 40 by July 1 Grains, Food Sciences, Cereals, Biotechnology, 2010, but nominations of younger scientists Biology, Molecular, Fermentation, are particularly encouraged. AACC Microbiology, Plant Genetics, Plant Sciences, international membership is not required for Biochemistry, Biological Sciences (RAE Unit nomination. -
Speakers Info
CAJAL Online Lecture Series Single Cell Transcriptomics November 2nd-6th, 2020 Keynote speakers Naomi HABIB, PhD | Edmond & Lily Safra Center for Brain Sciences (ELSC), Israel Naomi Habib is an assistant professor at the ELSC Brain Center at the Hebrew University of Jerusalem since July 2018. Habib's research focuses on understanding how complex interactions between diverse cell types in the brain and between the brain and other systems in the body, are mediating neurodegenerative diseases and other aging-related pathologies. Naomi combines in her work computational biology, genomics and genome-engineering, and is a pioneer in single nucleus RNA-sequencing technologies and their applications to study cellular diversity and molecular processes in the brain. Naomi did her postdoctoral at the Broad Institute of MIT/Harvard working with Dr. Feng Zhang and Dr. Aviv Regev, and earned her PhD in computational biology from the Hebrew University of Jerusalem in Israel, working with Prof. Nir Friedman and Prof. Hanah Margalit. Selected publications: - Habib N, McCabe C*, Medina S*, Varshavsky M*, Kitsberg D, Dvir R, Green G, Dionne D, Nguyen L, Marshall J.L, Chen F, Zhang F, Kaplan T, Regev A, Schwartz M. (2019) Unique disease-associated astrocytes in Alzheimer’s disease. Nature Neuroscience. In Press. - Habib N*, Basu A*, Avraham-Davidi I*, Burks T, Choudhury SR, Aguet F, Gelfand E, Ardlie K, Weitz DA, Rozenblatt-Rosen O, Zhang F, and Regev A. (2017). Deciphering cell types in human archived brain tissues by massively-parallel single nucleus RNA-seq. Nature Methods. Oct;14(10):955-958. - Habib N*, Li Y*, Heidenreich M, Sweich L, Avraham-Davidi I, Trombetta J, Hession C, Zhang F, Regev A.