You can meet two of our young investigators at the European Society of Human Genetics this week. Fabiola Ceroni will be presenting a poster describing her findings in a case study of Childhood Disintegrative Disorder (CDD), a rare and devastating form of autism with regression and Stefan Prekovic will be presenting a poster describing his characterisation of a family with the rare ability to speak backwards. You can download pdf versions of their posters from the poster section of our website.
March 2016Our paper investigating the role of a variable number tandem repeat (VNTR) at the PCSK6 locus in association to handedness is now available in Human molecular Genetics. The paper finds that a variant within the PCSK6 gene alters a binding iste for a nuclear factor and flanks a bidirectional promoter of RNA transcripts. The paper is open access and a link to the pdf is given in the publications section below.
We are currently looking for a postdoc to help with an exciting collaborative project with the Department of Experimental Psychology.
THIS IS NOT A GENETICS POSTDOC - You will need to have a PhD in Psychology, Speech-Language Sciences, Education or equivalent with excellent communication skills. With a proven ability to coordinate research and the ability to work independently, you will also have a strong communicative ability in Spanish and English and a willingness to travel within the UK and to Chile when required.
I was lucky enough to be invited to talk at the Genetics Society "Building the Brain" conference last week. The conference brought together researchers across molecular genetics, neuroscience, cognition, behaviour and evolution to discuss the formation and function of the brain. A copy of the abstract for my talk can be found on our presentations page. A full outline can be found on the genetics society website.
You can now watch a 1-minute podcast video of our ongoing study in collaboration with researchers from the University of Chile. In January, I was lucky enough to visit Chile and made a video to explain what I was doing there. You can see other podcasts of our reserch on the lab podcast page.
You can now read our new paper in Plos One. This paper follows up on our recent investigations of copy number variants (deletions and duplications of genetic material) in children with neurodevelopmental disorders. We looked at 85 children with language-related difficulties and describe a case with a deletion on chromosome 15 (15q11-13del). Large genetic disruptions in this region lead to Prader-Willi and Angelman syndromes and smaller rearrangements have been described in children with autism and developmental delay. This case expands the phenotype associated with deletions on 15q and extends the evidence that some cases of SLI may be caused by micro-deletion/-duplication syndromes.
We welcomed students from John Hampden Grammar School to the lab for the day. They learnt how to extract DNA and had a tour of the genomics labs.
Ten students spent the week in the lab with us last week trying to recreate some DNA art. We had a fantastic week puring gels, running PCRs and using bioinformatic databases. Having the students around always reminds me how lucky I am to have this job. They are always so enthusiastic and animated about everything they see and learn. Thank you to everyone who took part. You can read the blogs of the students and see their DNA art by visiting our work experience page. Next year, we hope to organise a central application system to make the process a little more organised. Watch this space!
For each of the primary research papers coming from our lab, we will now provide a short summary in plain English which summarises the main conclusions from the paper. Each infographic is followed by a link from which you can download a one-page summary describing the aims of the paper and it's main findings. Infographics are found towards the bottom of the main page. Full papers can still be downloaded from our publications link.
Our new research paper describes the exome sequencing of five individuals from the Robinson Crusoe population in Chile. This population are affected by a particularly high incidence of speech and language impairment. Our study found a genetic variant in the NFXL1 gene that was significantly more common in Isalnders affected by SLI than those with typical language impairment. We went on to sequence the NFXL1 gene in individuals affected by SLI from the UK and identified three more coding changes indicating that variants within NFXL1 may predispose to SLI.
You can read a diary of my recent visit to the RobinsonCrusoe Island on the Centres blog site.
Our new research paper describes the characterisation of small deletions and duplications of genetic material in SLI. These "copy number variants" are known to be important in disorders like autism but no-one had looked at their role in SLI before. In our study we found that individuals affected by SLI had more CNVs that were larger than those found in population controls. We found that this was also the case for family members of individuals affected by SLI, regardless of whether they themselves had language difficulties or not. These data suggest that there is a general increase in the CNV burden in families affected by SLI meaning that all family members are at risk of language difficulties. The exact position of the deletions or duplications and the genes they affect may then increase or decrease the chances of language impairment for any given individual within that family.
I have just returned from a visit to the Robinson Crusoe Island. It was fantastic
to be able to meet the Islanders and to talk to them about life on the Island and our
research project. Everyone was so friendly and interested in the research.
I talked to the mayor of the Island and our Chilean collaborators about teh research completed so far and the direction of the project in the future. We are hoping to send a team in March to complete further data collections.
Many thanks to the MRC for funding this visit through their International collaboration poster competition.
Congratulations to Ron, our DPhil student who has just passed his viva with minor corrections.
We have just published a review of genome-wide studies of SLI in Current Behavioural Neuroscience Reports [pdf]. The review highlights the methodologies that have been used to research the genetics of SLI to date, and also considers the current, and future, contributions that GWAS can offer.
The review is a first publication for two members in the lab - Rose Reader and Laura Covill - Congratulations to them!
Congratulations to our collaborators at the University of Chile who were awarded the best symposium prize for their session on the genetics of SLI at the AELFA (Asociación española de logopedia y Fonoaudiologia) conference in Murcia last week.
Pictured from left to right - Zulema de Barbieri (Symposium speaker), Elvira Mendoza (Vice President, AELFA), Victor Acosta (President, AELFA), Pia Villanueva (Symposium speaker), Maria Fernandez (Symposium speaker).
It was a pleasure this week to host seven work experience students in the lab.
They got to meet lots of other groups from around the centre and got some hands-on experience with lab techniques such as PCR and electrophoresis. If you would like to take part in work experience next year, then please e-mail me.
Our paper describing a meta-GWAs of reading- and language-impaired datasets is now available in Genes, Brain and Behavior. The study included 1682 individuals, including the SLIC families, and investigated prinicipal components of reading- and language-related abilities. We found suggestive levels of association (uncorrected p≈10-7 for each SNP) on chromosomes 7q and 22q, located respectively at the CCDC136/FLNC and RBFOX2 genes. Each of these SNPs showed evidence for effects across multiple reading and language traits in univariate association testing against the individual traits. FLNC encodes a structural protein involved in cytoskeleton remodelling, while RBFOX2 is an important regulator of alternative splicing in neurons.
The Newbury lab have officially adopted the word "genetics" through the children’s communication charity I-CAN. Anyone can adopt a bit of the English language for just £15. All proceeds help children who struggle to find the words they need to communicate.
In the spirit of open doors, we recorded a short video of our lab on a Thursday afternoon - enjoy!
This week I am guest tweeter for NDMscience. You can follow me on @NDMScience
Congratulations to Fabiola Ceroni who passed her doctorate "Investigating the role of copy number variants in Specific Language Impairment and identification of new candidate genes".
Our paper describing parent-of-origin effects in families affected by SLI is now available online from Genes, Brain, Behavior. The paper describes a genome-wide association screen for parent-of-origin effects in 278 families affected by SLI. We found genome-wide association to chromosome 14q12 and genome-wide suggestive association to chromosome 5p13. We subsequently replicated the association on chromosome 5 in the ALSPAC sample. This study implicates parent-of-origin effects in language impairment and adds a new dimension to the emerging picture of shared genetic effects between neurodevelopmental disorders.
On Thursday, I presented in a symnposium entitled "Genetic and environmental influences on reading (dis)ability" at the British Dyslexia Association along with Maria Tosto, Else vanBergen, Alexander Gialluisi and Silvia Paracchini. A pdf of my slides can be found in our presentations section.
I was selected to present a poster in the Biological and Biomedical Sciences category of the SET for Britain Exhibition in the Houses of Commons on Monday. This exhibition is held to encourage, support and promote Britain's early-stage and early-career research scientists who are the "engine-room" of continued progress in and development of UK research and R&D, and ultimately of UK plc. I was joined by our Chilkean collaborator Pia Villaneuva and we presented a poster about teh Robinson Crusoe study. Congratulations to the winners of the category Mr Graham Robertson (University of Strathclyde), Miss Amelie Heuer-Jungemann (University of Southampton) and Miss Morelia Camacho-Cervantes (University of St Andrews).
Our paper describing the ZNF277 gene as a possible candidate gene for SLI has been published in the European Journal of Human Genetics. The paper describes the identification of a girl with a homozygous deletion within the ZNF277 gene. In addition to this specific case, we found an increased incidence of ZNF277 heterozygous deletions in a cohort of children affected by SLI. The ZNF277 gene lies in a genomic region implicated in autism (AUTS1 locus) and is adjacent to the DOCK4 and IMMP2L genes which have also been described as being deleted in a family affected by autism and dyslexia. We therefore examined the expression of the ZNF277, DOCK4 and IMMP2L genes in individuals carrying ZNF277 deletions and found that the deletion did not affect the expression levels of these adjacent transcripts suggesting that ZNF277 microdeletions may contribute to the risk of language impairments in a manner that is independent of the autism risk loci previously described in this region.
Our paper indicating a possible role for HLA in SLI risk has been published in the Journal of Neurodevelopmental disorders. We used an imputation program to predict HLA types from SNP data in children with SLI. We performed quantitative association analyses of three linguistic measures and case-control association analyses using both SNP data and the imputed HLA types. We found an association between HLA-A and short-term memory and expressive language ability. We also identified parent-of-origin effects between HLA-B and HLA-DQ and receptive language. Finally, case control analyses indicated that the DR10 allele of HLA-DRB1 was more frequent in individuals with SLI than population controls. These preliminary data provide an intriguing link to those described by previous studies of other neurodevelopmental disorders and suggest a possible role for HLA loci in language disorders.
On Monday, Dianne and Pia attended a reception for International Collaboration hosted by the MRC at the Royal Society in London. Part of the reception included a competition for posters describing International research projects by early career researchers and our poster describing the Chilean collaborative project won first prize! We had a lovely evening during which we got to meet many eminent scientists and discuss our research.
We have just had a paper published in Developmental Medicine and Child Neurology describing the frequency of sex chromosome aneuploidies in children affected by SLI. It has been known for a long time that abnormalities of the sex chromosomes can lead to langauge difficulties. We investigated the frequency of sex chromsome aneuploidies across groups of children selected to have speech and language impairments. Although the absolute frequency of sex chromosome aneuploidies in these cohorts was low, it was at a much higher rate than expected in the general population. We therefore propose that it would be useful to introduce microarray or cytogenetic screening as standard for clinically referred cases of speech and lmaguage impairment to allow the early identification of such cases. The paper is open access and can be downloaded from the publications section below.
We are pleased to welcome Laura Covill into our lab. Laura will be working with us for the next year as a research assistant.
A review of FOXP2 research written by Ron, a DPhil student in the lab, is now available online.
We have just been awarded a grant from the John Fell Fund to study genetic and environmental correlates of speech and language impairments in school-entry-aged children. We are very pleased to be working with the Surrey Communication and Language in Education (SCALES) team on this exciting project!
We are pleased to be hosting five work experience students in the lab this week. We hope they will enjoy the experience. Blogs of their time in the lab can be found on our website.
We presented two posters at the European Society of Human Genetics in Paris in June.
Nuala presented a poster investigating the frequency of sex chromosome aneuploidies in language impaired children.
Fabiola presented a poster describing deletions in the ZNF277 gene in language impaired individuals.
Last month I spoke to Kat Arney of the Naked Scientists about specific language impairment (SLI) and our research. You can now download the podcast.
You can now access news from the lab on twitter by following @DianneNewbury. We will post updates and news from the lab as well as interesting stories regarding genetics and language disorders.
Dianne gave a talk about the genetic contributions to SLI at Science Oxford as part of their “Healthy season”. The session consisted of a 20 minute talk followed by an open forum discussion. This talk will be made into a podcast and available from our website.
We are pleased to say that we have a new lab member. Rose Reader has joined us from the University of Aberystwyth. You can view Rose's profile on the group members page.
Our new paper showing that a dyslexia-associated loci influences general IQ and white matter structure is now available to view at the PLosOne website.
We are currently recruiting a research assistant to help in the lab. We are looking for someone with lab experience and experience of either cell culture or bioinformatics.
The BBC have an article describing life on the Robinson Crusoe Island. In collaboration with the Univeristy of Chile, have an MRC project grant to investigate language impairment in this population. See our research pages for further details.
Our new paper describing a 16p11.2 deletion in a child with developmental verbal dyspraxia is now available to view at the European Journal of Human Genetics.
Lab members will be presenting at both the Behavior Genetics Association meeting and the European Society of Human Genetics meeting next week. Nuala Simpson and Fabiola Ceroni will present a poster describing preliminary copy number variant analyses in the SLIC cohort. Dianne Newbury will present a poster describing the Robinson Crusoe exome sequencing study. Both posters will be available from the website following the meetings.
Yesterday, the cell, cell, cell show premiered at INTECH planetarium in Winchester. This is a Wellcome Trust funded planetarium show that explores the human body and looks inside cells. The show opens to the public on June 2nd and will be launched at other planetariums around the country later in the summer.
The RALLI youtube channel has been launched to promote better awareness of SLI and related disorders. It includes videos that explain what a language impairment is, the impact it can have and how to get help.
We have just recieved a project grant from the MRC to continue our studies of the Robinson Crusoe population in collaboration with the University of Chile. Thus funding will allow a better genetic characterisation of this population and hopefully allow the identification of genetic variables that contribute to SLI. See 'Research projects' for a description of this project.
Two members of the SLI team presented findings from the lab at the International Congress of Human Genetics. Ron Nudel presented information about the Chile project and Dianne presented an overview of the SLIC work. A webcast of Dianne's presentation (mp4 format) can be downloaded by clicking here.
We now have a podcast about our research.