Investigation of the roles of CMIP and ATP2C2 in Specific Language Impairment (SLI).

Lead Research Organisation: University of Oxford
Department Name: Wellcome Trust Centre for Human Genetics

Abstract

Specific Language Impairment (or SLI) is diagnosed in children who have problems learning to use or understand language despite normal intelligence and otherwise typical development. We know that SLI runs in families and is a complex genetic disorder. This means that some individuals carry certain gene combinations that, when accompanied by particular environmental factors, make them particularly sensitive to language deficits. It is assumed that these variations subtly alter the function of proteins important for brain development. Our team at the Wellcome Trust Centre for Human Genetics in Oxford has recently identified two genes that contribute to SLI susceptibility. I am asking for a grant to characterise these genes and the DNA sequence around them. This research will allow the identification of specific genetic elements that cause predisposition to SLI and help us to discover which protein networks are important in this process. An understanding of these systems will help the early identification of affected individuals and allow the design of better speech therapy programs. In addition, this information may also be useful for the study of related developmental disorders (such as dyslexia) and the characterisation of normal language acquisition.

Technical Summary

Specific Language Impairment (SLI) is diagnosed in children who experience profound language deficits despite otherwise normal development and in the absence of any obvious explanatory factors. Our previous research has identified association between SNPs in two genes on chromosome 16 (CMIP and ATP2C2) and a quantitative measure of language ability, nonword repetition. This test involves the repetition of nonsensical words and is particularly problematic for individuals with SLI, leading to the postulation that this disorder may be caused by a phonological short-term memory deficit. The primary aim of the proposed project is to identify the specific causal variants that underlie the association on chromosome 16. This will be achieved by a multifaceted approach involving variant cataloguing, bioinformatic analyses, mutation screening, expression (and, if necessary, post-transcriptional) assays and functional characterisation. Initial investigations aim to take advantage of recent advances in sequencing technologies to catalogue variants across the 3Mb region of association. The putative function of identified variants will be investigated in-silico exploiting available information from relevant experiments such as expression-QTL databases, chromatin immunoprecipitation assays and cross-species sequencing. Identified variants will be genotyped in our family-based SLI sample and subjected to quantitative association analyses. Concurrent high-throughput sequencing of proband DNA will enable the identification of causative mutations or allow the detection of an increased mutational load. Complementary expression assays will focus the attention of the study to the modulation of specific transcripts. The amalgamation of the information yielded by these various routes of investigation will allow the generation of a ‘short-list‘ of possible causative variants that will subsequently verified in-vitro. The techniques applied in these stages will be particular to the variann hand but are likely to involve the generation of luciferase reporter vectors, Electrophoretic Mobility Shift Assays (EMSAs), immunocytochemistry and RNAi. The information arising from this investigation will highlight specific variants and mechanisms which underlie the association between the genetic sequence on chromosome 16 and nonword repetition performance. This, in turn, will allow the formation of functional hypotheses that will direct future studies of SLI and related disorders. Ultimately, the data generated from this project will inform our understanding of the biological basis of language impairment and language acquisition. An understanding of these systems will help the early identification of affected individuals and allow the design of better diagnostic programs and intervention therapies and may have wider implications for the study and treatment of associated developmental disorders.

Publications


10 25 50
Ceroni F (2014) Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment. in European journal of human genetics : EJHG
Ceroni F (2014) Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment. in European journal of human genetics : EJHG
Ceroni F (2014) A deletion involving CD38 and BST1 results in a fusion transcript in a patient with autism and asthma. in Autism research : official journal of the International Society for Autism Research
 
Title cell, cell, cell 
Description I was involved in the production of a film that was shown at planetariums around the country. The film is the story of the trillions of cells that form our bodies, from our beginnings as a single cell to the complexity of a whole body: it's the story of who we are. 
Type Of Art Film/Video/Animation 
Year Produced 2012 
Impact The film was initially shown at intech science centre in Winchester and has since been shown at several planetariums around the country. 
URL http://cell-cell-cell.com/
 
Description Equality committee, SJC
Geographic Reach Local/Municipal/Regional 
Policy Influence Type Membership of a guidance committee
 
Description Gender Equality committee
Geographic Reach Local/Municipal/Regional 
Policy Influence Type Participation in advisory committee
Impact I am a member of the gender equality committee of the Wellcome Trust Centre of Human Genetics. We recently participated in successfully applying for an ATHENA SWAN bronze award.
 
Description Genomics, Bioinformatics, Research Computing Cores Advisory Committee
Geographic Reach Local/Municipal/Regional 
Policy Influence Type Participation in advisory committee
Impact I am a group representative of the Genomics, Bioinformatics, Research Computing Cores Advisory Committee of the Wellcome Trust Centre for Human Genetics. This committee is charged with setting and monitoring the mission, priorities and activities of the Genomics Core, Bioinformatics & Statistical Genetics Core and Research Computing Core. The Committee aims to ensure service capabilities match the needs of users and evaluates the Cores' activities against the competitive landscape. The Committee receives reports and recommendations from the Sequencing Committee and makes recommendations to the Management Committee on the Cores' service activities and resource.
 
Description IGERT panel
Geographic Reach North America 
Policy Influence Type Participation in advisory committee
 
Description Web site committee
Geographic Reach Local/Municipal/Regional 
Policy Influence Type Participation in advisory committee
Impact I am member of the website committee at the Wellcome Trust centre for Human Genetics. This committee advises on web site content and appearance for the centre.
 
Description International Congress of Human Genetics Travel Award
Amount £265 (GBP)
Organisation International Federation of Human Genetics Societies 
Sector Academic/University
Country Austria, Republic of
Start 10/2011 
End 11/2011
 
Description John Fell Fund
Amount £36,819 (GBP)
Funding ID 123/738 
Organisation University of Oxford 
Sector Academic/University
Country United Kingdom of Great Britain & Northern Ireland (UK)
Start 10/2014 
End 10/2015
 
Description Lincoln College Graduate Research Fund
Amount £415 (GBP)
Organisation University of Oxford 
Sector Academic/University
Country United Kingdom of Great Britain & Northern Ireland (UK)
Start 10/2011 
End 11/2011
 
Description ALSPAC 
Organisation University of Bristol
Department Avon Longitudinal Study of Parents and Children (ALSPAC)
Country United Kingdom of Great Britain & Northern Ireland (UK) 
Sector Academic/University 
PI Contribution We have been working with partners at the Univ. St Andrews to assess the contributions of genetic across known candidate genes to language/reading ability in the ALSPAC cohort
Collaborator Contribution ALPSAC hold the data, Univ of St Andrews lead the project
Impact We have had three papers published using the ALPSAC data and continue to use this as a replication cohort.
Start Year 2010
 
Description ALSPAC 
Organisation University of St Andrews
Department School of Medicine St Andrews
Country United Kingdom of Great Britain & Northern Ireland (UK) 
Sector Academic/University 
PI Contribution We have been working with partners at the Univ. St Andrews to assess the contributions of genetic across known candidate genes to language/reading ability in the ALSPAC cohort
Collaborator Contribution ALPSAC hold the data, Univ of St Andrews lead the project
Impact We have had three papers published using the ALPSAC data and continue to use this as a replication cohort.
Start Year 2010
 
Description Brookes 
Organisation Oxford Brookes University
Country United Kingdom of Great Britain & Northern Ireland (UK) 
Sector Academic/University 
PI Contribution We are collaborating with researchers at Brookes to functionally validate our findings in the RIC3 gene
Collaborator Contribution Our partners have been performing patch clamp techniques on cells
Impact Publications in draft
Start Year 2015
 
Description Nijmegen 
Organisation Max Planck Society
Department Max Planck Society Language and Genetics Department
Country Germany, Federal Republic of 
Sector Public 
PI Contribution We have been collaborating with the Max Planck institute to perform exome sequencing studies of individuals with SLI.
Collaborator Contribution Intellectual input and genomic facilities
Impact Data from this project was presented at the International Congress of Human Genetics in 2011
 
Description POBI 
Organisation University of Oxford
Department British Isles samples collected by staff at the University of Oxford
Country United Kingdom of Great Britain & Northern Ireland (UK) 
Sector Academic/University 
PI Contribution We have established collaborations with this group to use their data as control dataset in our analyses
Collaborator Contribution We have analysed their data for copy number variations
Impact We used the POBI data in a paper published in 2013
Start Year 2012
 
Description SCALES 
Organisation Royal Holloway, University of London
Department Department of Psychology
Country United Kingdom of Great Britain & Northern Ireland (UK) 
Sector Academic/University 
PI Contribution We have teamed up with the Surrey Communication and Language in Education Study (SCALES) - a population-based study of language and communication in education. We will provide a genetic aspect to their ongoing study.
Collaborator Contribution SCALES will be responsible for the collection of behavioral data
Impact We have been awarded a grant from the John Fell Fund (Oxford University) to collect saliva samples and perform SNP genotyping in approx 100 individuals affected by severe speech and language impairment.
Start Year 2013
 
Description SLI Consortium 
Organisation Guy's and St Thomas' NHS Foundation Trust
Department Newcomen Centre
Country United Kingdom of Great Britain & Northern Ireland (UK) 
Sector Hospitals 
PI Contribution My group are the only genetics group in the SLI Consortium.
Collaborator Contribution Intellectual inputSample collection and intellectual inputSample collection and intellectual inputSample collection and intellectual inputsample collection and intellectual inputsample collection and intellectual inputSample collection and intellectual inputSample collection and intellectual inputsample collection and intellectual inputSample collection and intellectual input
Impact The SLI Consortium is a group of affiliated psychologists, clinicians and speech and language therapists with an interest in the aetiological basis of specific language impairment (SLI). Members come from the Univeristy of Oxford, the University of Manchester, the Institute of psychiatry, Guys Hospital and the University of Aberdeen. The consortium collected DNA samples from 308 families affected by SLI between 2000 and 2010. Each family was assessed using a standardised battery of language tests. These data were then used for genetic studies to try to identify contributory genetic effects in SLI. This resulted in a series of papers between 2002 and 2009. The consortium is not collecting families at the present time but contrinues as a group of professionals with a common goal and meet once a year to discuss progress in the field and possible avenues of future research. The research with the DNA collected is ongoing and future publications are envisaged.
 
Description SLI Consortium 
Organisation King's College London (KCL)
Department Institute of Psychiatry (IoP)
Country United Kingdom of Great Britain & Northern Ireland (UK) 
Sector Academic/University 
PI Contribution My group are the only genetics group in the SLI Consortium.
Collaborator Contribution Intellectual inputSample collection and intellectual inputSample collection and intellectual inputSample collection and intellectual inputsample collection and intellectual inputsample collection and intellectual inputSample collection and intellectual inputSample collection and intellectual inputsample collection and intellectual inputSample collection and intellectual input
Impact The SLI Consortium is a group of affiliated psychologists, clinicians and speech and language therapists with an interest in the aetiological basis of specific language impairment (SLI). Members come from the Univeristy of Oxford, the University of Manchester, the Institute of psychiatry, Guys Hospital and the University of Aberdeen. The consortium collected DNA samples from 308 families affected by SLI between 2000 and 2010. Each family was assessed using a standardised battery of language tests. These data were then used for genetic studies to try to identify contributory genetic effects in SLI. This resulted in a series of papers between 2002 and 2009. The consortium is not collecting families at the present time but contrinues as a group of professionals with a common goal and meet once a year to discuss progress in the field and possible avenues of future research. The research with the DNA collected is ongoing and future publications are envisaged.
 
Description SLI Consortium 
Organisation Medical Sciences Division
Department Department of Experimental Psychology
Country United Kingdom of Great Britain & Northern Ireland (UK) 
Sector Academic/University 
PI Contribution My group are the only genetics group in the SLI Consortium.
Collaborator Contribution Intellectual inputSample collection and intellectual inputSample collection and intellectual inputSample collection and intellectual inputsample collection and intellectual inputsample collection and intellectual inputSample collection and intellectual inputSample collection and intellectual inputsample collection and intellectual inputSample collection and intellectual input
Impact The SLI Consortium is a group of affiliated psychologists, clinicians and speech and language therapists with an interest in the aetiological basis of specific language impairment (SLI). Members come from the Univeristy of Oxford, the University of Manchester, the Institute of psychiatry, Guys Hospital and the University of Aberdeen. The consortium collected DNA samples from 308 families affected by SLI between 2000 and 2010. Each family was assessed using a standardised battery of language tests. These data were then used for genetic studies to try to identify contributory genetic effects in SLI. This resulted in a series of papers between 2002 and 2009. The consortium is not collecting families at the present time but contrinues as a group of professionals with a common goal and meet once a year to discuss progress in the field and possible avenues of future research. The research with the DNA collected is ongoing and future publications are envisaged.
 
Description SLI Consortium 
Organisation NHS Grampian
Department The Raeden Centre
Country United Kingdom of Great Britain & Northern Ireland (UK) 
Sector Hospitals 
PI Contribution My group are the only genetics group in the SLI Consortium.
Collaborator Contribution Intellectual inputSample collection and intellectual inputSample collection and intellectual inputSample collection and intellectual inputsample collection and intellectual inputsample collection and intellectual inputSample collection and intellectual inputSample collection and intellectual inputsample collection and intellectual inputSample collection and intellectual input
Impact The SLI Consortium is a group of affiliated psychologists, clinicians and speech and language therapists with an interest in the aetiological basis of specific language impairment (SLI). Members come from the Univeristy of Oxford, the University of Manchester, the Institute of psychiatry, Guys Hospital and the University of Aberdeen. The consortium collected DNA samples from 308 families affected by SLI between 2000 and 2010. Each family was assessed using a standardised battery of language tests. These data were then used for genetic studies to try to identify contributory genetic effects in SLI. This resulted in a series of papers between 2002 and 2009. The consortium is not collecting families at the present time but contrinues as a group of professionals with a common goal and meet once a year to discuss progress in the field and possible avenues of future research. The research with the DNA collected is ongoing and future publications are envisaged.
 
Description SLI Consortium 
Organisation NHS Greater Glasgow and Clyde (NHSGGC)
Department Glasgow Royal Hospital for Sick Children
Country United Kingdom of Great Britain & Northern Ireland (UK) 
Sector Hospitals 
PI Contribution My group are the only genetics group in the SLI Consortium.
Collaborator Contribution Intellectual inputSample collection and intellectual inputSample collection and intellectual inputSample collection and intellectual inputsample collection and intellectual inputsample collection and intellectual inputSample collection and intellectual inputSample collection and intellectual inputsample collection and intellectual inputSample collection and intellectual input
Impact The SLI Consortium is a group of affiliated psychologists, clinicians and speech and language therapists with an interest in the aetiological basis of specific language impairment (SLI). Members come from the Univeristy of Oxford, the University of Manchester, the Institute of psychiatry, Guys Hospital and the University of Aberdeen. The consortium collected DNA samples from 308 families affected by SLI between 2000 and 2010. Each family was assessed using a standardised battery of language tests. These data were then used for genetic studies to try to identify contributory genetic effects in SLI. This resulted in a series of papers between 2002 and 2009. The consortium is not collecting families at the present time but contrinues as a group of professionals with a common goal and meet once a year to discuss progress in the field and possible avenues of future research. The research with the DNA collected is ongoing and future publications are envisaged.
 
Description SLI Consortium 
Organisation Queen Margaret University Edinburgh
Department Speech and Hearing Sciences
Country United Kingdom of Great Britain & Northern Ireland (UK) 
Sector Academic/University 
PI Contribution My group are the only genetics group in the SLI Consortium.
Collaborator Contribution Intellectual inputSample collection and intellectual inputSample collection and intellectual inputSample collection and intellectual inputsample collection and intellectual inputsample collection and intellectual inputSample collection and intellectual inputSample collection and intellectual inputsample collection and intellectual inputSample collection and intellectual input
Impact The SLI Consortium is a group of affiliated psychologists, clinicians and speech and language therapists with an interest in the aetiological basis of specific language impairment (SLI). Members come from the Univeristy of Oxford, the University of Manchester, the Institute of psychiatry, Guys Hospital and the University of Aberdeen. The consortium collected DNA samples from 308 families affected by SLI between 2000 and 2010. Each family was assessed using a standardised battery of language tests. These data were then used for genetic studies to try to identify contributory genetic effects in SLI. This resulted in a series of papers between 2002 and 2009. The consortium is not collecting families at the present time but contrinues as a group of professionals with a common goal and meet once a year to discuss progress in the field and possible avenues of future research. The research with the DNA collected is ongoing and future publications are envisaged.
 
Description SLI Consortium 
Organisation School of Clinical Sciences
Department MRC Centre for Reproductive Health
Country United Kingdom of Great Britain & Northern Ireland (UK) 
Sector Public 
PI Contribution My group are the only genetics group in the SLI Consortium.
Collaborator Contribution Intellectual inputSample collection and intellectual inputSample collection and intellectual inputSample collection and intellectual inputsample collection and intellectual inputsample collection and intellectual inputSample collection and intellectual inputSample collection and intellectual inputsample collection and intellectual inputSample collection and intellectual input
Impact The SLI Consortium is a group of affiliated psychologists, clinicians and speech and language therapists with an interest in the aetiological basis of specific language impairment (SLI). Members come from the Univeristy of Oxford, the University of Manchester, the Institute of psychiatry, Guys Hospital and the University of Aberdeen. The consortium collected DNA samples from 308 families affected by SLI between 2000 and 2010. Each family was assessed using a standardised battery of language tests. These data were then used for genetic studies to try to identify contributory genetic effects in SLI. This resulted in a series of papers between 2002 and 2009. The consortium is not collecting families at the present time but contrinues as a group of professionals with a common goal and meet once a year to discuss progress in the field and possible avenues of future research. The research with the DNA collected is ongoing and future publications are envisaged.
 
Description SLI Consortium 
Organisation University of Aberdeen
Country United Kingdom of Great Britain & Northern Ireland (UK) 
Sector Academic/University 
PI Contribution My group are the only genetics group in the SLI Consortium.
Collaborator Contribution Intellectual inputSample collection and intellectual inputSample collection and intellectual inputSample collection and intellectual inputsample collection and intellectual inputsample collection and intellectual inputSample collection and intellectual inputSample collection and intellectual inputsample collection and intellectual inputSample collection and intellectual input
Impact The SLI Consortium is a group of affiliated psychologists, clinicians and speech and language therapists with an interest in the aetiological basis of specific language impairment (SLI). Members come from the Univeristy of Oxford, the University of Manchester, the Institute of psychiatry, Guys Hospital and the University of Aberdeen. The consortium collected DNA samples from 308 families affected by SLI between 2000 and 2010. Each family was assessed using a standardised battery of language tests. These data were then used for genetic studies to try to identify contributory genetic effects in SLI. This resulted in a series of papers between 2002 and 2009. The consortium is not collecting families at the present time but contrinues as a group of professionals with a common goal and meet once a year to discuss progress in the field and possible avenues of future research. The research with the DNA collected is ongoing and future publications are envisaged.
 
Description SLI Consortium 
Organisation University of Manchester
Department Faculty of Life Sciences
Country United Kingdom of Great Britain & Northern Ireland (UK) 
Sector Academic/University 
PI Contribution My group are the only genetics group in the SLI Consortium.
Collaborator Contribution Intellectual inputSample collection and intellectual inputSample collection and intellectual inputSample collection and intellectual inputsample collection and intellectual inputsample collection and intellectual inputSample collection and intellectual inputSample collection and intellectual inputsample collection and intellectual inputSample collection and intellectual input
Impact The SLI Consortium is a group of affiliated psychologists, clinicians and speech and language therapists with an interest in the aetiological basis of specific language impairment (SLI). Members come from the Univeristy of Oxford, the University of Manchester, the Institute of psychiatry, Guys Hospital and the University of Aberdeen. The consortium collected DNA samples from 308 families affected by SLI between 2000 and 2010. Each family was assessed using a standardised battery of language tests. These data were then used for genetic studies to try to identify contributory genetic effects in SLI. This resulted in a series of papers between 2002 and 2009. The consortium is not collecting families at the present time but contrinues as a group of professionals with a common goal and meet once a year to discuss progress in the field and possible avenues of future research. The research with the DNA collected is ongoing and future publications are envisaged.
 
Description SLI Consortium 
Organisation University of Strathclyde
Department School of Education Strathclyde
Country United Kingdom of Great Britain & Northern Ireland (UK) 
Sector Academic/University 
PI Contribution My group are the only genetics group in the SLI Consortium.
Collaborator Contribution Intellectual inputSample collection and intellectual inputSample collection and intellectual inputSample collection and intellectual inputsample collection and intellectual inputsample collection and intellectual inputSample collection and intellectual inputSample collection and intellectual inputsample collection and intellectual inputSample collection and intellectual input
Impact The SLI Consortium is a group of affiliated psychologists, clinicians and speech and language therapists with an interest in the aetiological basis of specific language impairment (SLI). Members come from the Univeristy of Oxford, the University of Manchester, the Institute of psychiatry, Guys Hospital and the University of Aberdeen. The consortium collected DNA samples from 308 families affected by SLI between 2000 and 2010. Each family was assessed using a standardised battery of language tests. These data were then used for genetic studies to try to identify contributory genetic effects in SLI. This resulted in a series of papers between 2002 and 2009. The consortium is not collecting families at the present time but contrinues as a group of professionals with a common goal and meet once a year to discuss progress in the field and possible avenues of future research. The research with the DNA collected is ongoing and future publications are envisaged.
 
Description SLI network 
Organisation Department of Medicine
Department Genetic Medicine
Country United States of America 
Sector Academic/University 
PI Contribution We are working with other SLI groups to trry to establish meta analyses of existing SLI data
Collaborator Contribution We have been working with these researchers to try to find ways that existing data can be combined to provide increased power
Impact We are currently analysing data. As yet, no formal outcomes
Start Year 2011
 
Description St Andrews 
Organisation University of St Andrews
Department School of Medicine St Andrews
Country United Kingdom of Great Britain & Northern Ireland (UK) 
Sector Academic/University 
PI Contribution Intellectual input
Collaborator Contribution intellectual input
Impact We have been working with researchers from St Andrews in the analysis of data from ALSPAC. These data resulted in a publication in 2011 We also collaborate with their dyslexia data and this has been used in publications in 2012 and 2103
 
Description University of Chile 
Organisation University of Chile (Universidad de Chile)
Country Chile, Republic of 
Sector Academic/University 
PI Contribution We have performed the genetic analyses in this collaboration
Collaborator Contribution Sample collection and intellectual input
Impact We collaborate with researchers from the Univeristy of Chile in the investigation of SLI in an isolated population. The researchers at the Univeristy have direct contact with the population and have collected DNA, genealogical data and linguistic measurements from the Islanders. We conducted genetic analyses of the population in collaboration with core statistical support at the Wellcome Trust Centre for Human Genetics. These data resulted in a publication in 2011 and were presented as a platform presentation at the International Congress of Human Genetics in 2011. This collaboration is ongoing and collaborative grant applications are under consideration.
Start Year 2009
 
Description Yale 
Organisation Yale University
Department School of Medicine Yale
Country United States of America 
Sector Academic/University 
PI Contribution We are collaborating with the University of Yale and Nijmegen to try to initiate a meta-analysis of existing genetic data for cohorts with SLI
Collaborator Contribution We are collaborating with the University of Yale and Nijmegen to try to initiate a meta-analysis of existing genetic data for cohorts with SLI
Impact We are currently drafting an agreement for the exchange of research data
Start Year 2014
 
Description York 
Organisation University of York
Country United Kingdom of Great Britain & Northern Ireland (UK) 
Sector Academic/University 
PI Contribution We have been working with researchers at the University of York to perform genetic analyses of samples collected by them
Collaborator Contribution The team at the University of York have a collection of DNA from over 100 children at a high risk of language impairment
Impact Analysis ongoing
Start Year 2012
 
Description linguistics 
Organisation University of Oxford
Department Faculty of Linguistics, Philology & Phonetics
Country United Kingdom of Great Britain & Northern Ireland (UK) 
Sector Academic/University 
PI Contribution We have been helping a researcher in linguistics to genetically investigate an interesting case
Collaborator Contribution We have advised on genetic analyses
Impact collaboration between linguistics and genetics. This collaboration initiated a multidisciplinary option on the linguistics course at Oxford. I supervised 3 students through this option
Start Year 2012
 
Description Brookes science Bazaar 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Public/other audiences
Results and Impact The lab held a stall "handy family tree" at the Brookes Science Bazaar. Throughout the day, we discussed genetic effects with a range of the public. This event led to contact from a local school and a local science fayre asking us to also take part
Year(s) Of Engagement Activity 2017
 
Description Building the Brain conference 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Other audiences
Results and Impact I presented at the Genetics Society "Building the Brain" conference in London. This was a cross-discipline event which allowed me to meet many practioners across groups I would not usually collaborate with
Year(s) Of Engagement Activity 2015
URL http://www.genetics.org.uk/Conferences/tabid/84/Filter/64%20GS/MeetingNo/GTS_GENSOCA15/view/Conferen...
 
Description Castang 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Type Of Presentation Keynote/Invited Speaker
Geographic Reach International
Primary Audience Other academic audiences (collaborators, peers etc.)
Results and Impact I was invited to give a talk at a recent workshop entitled 'Audition, Perception and Language Acquisition' funded by the Castang foundation.
The meetings bring together a wide range of disciplines, including participants with direct clinical roles, to further understanding of the nature of problems that children can experience in listening effectively and acquiring language. The longer term aim is to improve assessment and intervention.

The meeting was attended by 20 researchers from a wide range of disciplines
Year(s) Of Engagement Activity 2012
 
Description Cell cell cell 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Type Of Presentation Workshop Facilitator
Geographic Reach National
Primary Audience Schools
Results and Impact I was a scientific advisor to a planetarium-based film made for school children. It was piloted at INTECH in Wiltshire and has subsequently been shown at planetariums across the UK

I took part in the launch of the film and answered questions at the opening showing
Year(s) Of Engagement Activity 2012
 
Description Cold Spring Harbour 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Postgraduate students
Results and Impact I presented at a cold spring harbour course - "Genetics & Neurobiology of Language". I engaged with many students, several of whom have been in contact by e-mail since the course
Year(s) Of Engagement Activity 2016
URL https://meetings.cshl.edu/courses.aspx?course=C-LANGUAGE&year=16
 
Description Colloquium for the Study of Language 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Type Of Presentation Keynote/Invited Speaker
Geographic Reach International
Primary Audience Other academic audiences (collaborators, peers etc.)
Results and Impact My student was invited to talk at the Colloquium for the Study of Language at Tel Aviv University, Israel

Interaction with International scientists from multiple disciplines
Year(s) Of Engagement Activity 2011
 
Description Confer debate 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Professional Practitioners
Results and Impact Psychiatrists and GPs attending a days debate where I addressed the question of whether genes determine mental health. The day included speakers from other fields with differing opinions and ended in an open debate
Year(s) Of Engagement Activity 2016
URL http://www.confer.uk.com/genes.html
 
Description ESHG2013 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Type Of Presentation Poster Presentation
Geographic Reach International
Primary Audience Other academic audiences (collaborators, peers etc.)
Results and Impact My postdoc and student presented a poster at the European Society of Human Genetics in 2013.
P06.47 - Increased prevalence of sex chromosome aneuploidies in Specific Language Impairment and Dyslexia.

interaction with scientists in the field
Year(s) Of Engagement Activity 2013
 
Description IGERT panel 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? Yes
Geographic Reach Local
Primary Audience Undergraduate students
Results and Impact I am on an International advisory panel for the IGERT program in language plasticity. I gave an invited talk as part of my visit

Three visits have been made in total (2012-2014)
Year(s) Of Engagement Activity 2012,2013,2014,2015
URL http://igert.cogsci.uconn.edu/
 
Description II Jornadas Internacionales TEL 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Patients, carers and/or patient groups
Results and Impact I presented at a day for families and practitioners affected by speech and language disorders. The day included talks from professionals and debates. The organisers said they had invited me because they had seen a podcast of my research on youtube.
Year(s) Of Engagement Activity 2016
URL http://jornadastelonline.com/
 
Description MRC talk 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Other audiences
Results and Impact I was invited to give a talk to MRC career development Fellows about my experience of being a Fellowship holder
Year(s) Of Engagement Activity 2015
 
Description Oxford Language Symposium 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Type Of Presentation Keynote/Invited Speaker
Geographic Reach Local
Primary Audience Undergraduate students
Results and Impact I was invited to give a talk at the Oxford Language Symposium

I met researchers and interested students at the University
Year(s) Of Engagement Activity 2012
 
Description Oxford Sparks 
Form Of Engagement Activity A magazine, newsletter or online publication
Part Of Official Scheme? No
Type Of Presentation Keynote/Invited Speaker
Geographic Reach National
Primary Audience Undergraduate students
Results and Impact Oxford Sparks is a new science resource from Oxford University. Covering physical, life and medical sciences and packed with videos, apps, games and activities, Oxford Sparks has plenty to interest students.

I took part in a meet the scientists Q&A feature on the Oxford sparks website
Year(s) Of Engagement Activity 2012
 
Description Papers in plain English 
Form Of Engagement Activity A magazine, newsletter or online publication
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Public/other audiences
Results and Impact For each of our primary publications, we have pledged to release a "papers in plain English" sheet which describes the findings of the paper in general terms. These papers are available on our website. People have e-mailed to thank me for this and it has prompted Twitter and e-mail discussions
Year(s) Of Engagement Activity 2015
URL http://www.well.ox.ac.uk/newbury
 
Description Podcast 
Form Of Engagement Activity Engagement focused website, blog or social media channel
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Public/other audiences
Results and Impact I made a podcast about our trip to the Robinson Crusoe Island and our research there. The podcast can be found on our website
Year(s) Of Engagement Activity 2015
URL http://www.well.ox.ac.uk/assets/files/rcvideo1.mp4
 
Description Podcast interview 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Public/other audiences
Results and Impact I gave an interview for the naked scientists which was published as an mp3 on their website

I have been approached by the naked scientists for a feature article on our work
Year(s) Of Engagement Activity 2013
URL http://www.thenakedscientists.com/HTML/content/interviews/interview/1000141/
 
Description Practical sessions in lab 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Undergraduate students
Results and Impact We have housed various project students in the lab.

These included a group of six linguistics students, one of whom returned for a longer project.
Year(s) Of Engagement Activity 2013,2014
 
Description STEM ambassador training 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? Yes
Type Of Presentation Workshop Facilitator
Geographic Reach National
Primary Audience Schools
Results and Impact By volunteering as an Ambassador, you could be opening up life-changing opportunities for many young people in your area. Anyone who has a desire to inspire children and young people in STEM subjects can become an Ambassador. The main qualities that all Ambassadors share are enthusiasm and commitment, along with a passion for what they do.

I have been asked to give a talk at a local school to their biomedical society
Year(s) Of Engagement Activity 2012
 
Description School Visit (Oxford High School) 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Type Of Presentation Keynote/Invited Speaker
Geographic Reach Local
Primary Audience Schools
Results and Impact 10 pupils attended a presentation about what it i slike to be a scientist and about our research.

A student approaached me after the talk to enquire about work experience
Year(s) Of Engagement Activity 2010,2012
 
Description Science Oxford evening lecture 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Type Of Presentation Keynote/Invited Speaker
Geographic Reach Local
Primary Audience Public/other audiences
Results and Impact I gave an invited talk at the science museum in Oxford.

I have had lots of e-mails exchanges with people at the talk and gained many Twitter followers.
A podcast of the talk is available online
Year(s) Of Engagement Activity 2013
URL http://www.ndm.ox.ac.uk/dianne-newbury-freeing-voices
 
Description Talk at clinical genetics group 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Professional Practitioners
Results and Impact I gave a talk to a special interest group at the clinical genetics unit in Oxford
Year(s) Of Engagement Activity 2015
 
Description Talk to paediatric group 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Professional Practitioners
Results and Impact I was invited to give a talk to local community paedatiric scientists about our research
Year(s) Of Engagement Activity 2015
 
Description U3A talk 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Public/other audiences
Results and Impact I was invited to give a talk to the University of the 3rd Age group. This prompted discussion regarding genetic technologies and the use of genetics in a clinical setting
Year(s) Of Engagement Activity 2015
 
Description clinical training day 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Type Of Presentation Keynote/Invited Speaker
Geographic Reach Local
Primary Audience Health professionals
Results and Impact I gave a talk at a training day for clinicians working in the filed of intellectual disability

I made clinical contacts who may be useful for further genetic collaborations
Year(s) Of Engagement Activity 2012
 
Description lecturing and tutorials 
Form Of Engagement Activity Participation in an open day or visit at my research institution
Part Of Official Scheme? No
Type Of Presentation Keynote/Invited Speaker
Geographic Reach Local
Primary Audience Undergraduate students
Results and Impact I have given lectures and tutorials in the neurosciences, immunology, medical sciences, biomedical seciences, physiology and linguistics departments this year. Average attendance at lectures is 10-20 students. Tutorials are 1-2 students

I have received an increasing number of requests to give tutorials and lectures in the University. We have had new course content covering genetics accepted by the linguistics department. I have secured a tutorial position at Somerville College (Oxford University)
Year(s) Of Engagement Activity 2010,2011,2012,2013
 
Description podcast 
Form Of Engagement Activity A magazine, newsletter or online publication
Part Of Official Scheme? No
Type Of Presentation Keynote/Invited Speaker
Geographic Reach International
Primary Audience Public/other audiences
Results and Impact The podcsat is available from the department website and forms one of a growing number of available podcsats regarding research in our department

I have had e-mails from parents of affected children saying they have seen the podcast
Year(s) Of Engagement Activity 2011
 
Description school visit 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Schools
Results and Impact 8 pupils from a local school spent a day in the lab. This sparked discussions regarding careers in science
Year(s) Of Engagement Activity 2015
 
Description school workshop 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Type Of Presentation Workshop Facilitator
Geographic Reach Local
Primary Audience Schools
Results and Impact My postdoc facilitated an outreach activity for sixth formers where they extracted their DNA and put it in a necklace

engagement of local schools
Year(s) Of Engagement Activity 2012
 
Description work experience 
Form Of Engagement Activity Participation in an open day or visit at my research institution
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Schools
Results and Impact We house 5-10 work experience students for a week in our lab

All students were asked to write blog-type posts for our website. The student group for 2014 mentioned that they had been inspired by previous student blogs.
One student from 2013 e-mailed me to let me know that she had been awarded a place to study biomedical science at Oxford after being inspired by the work experience.
Year(s) Of Engagement Activity 2013,2014,2015
URL http://www.well.ox.ac.uk/blog-of-work-experience-students