Researcher in Spotlight – Nathalie Rochefort

Nathalie Rochefort is a Chancellor’s fellow and a Sir Henry Dale fellow at the University of Edinburgh. She is a sensory neuroscientist whose goal is to understand how neural activity in the visual cortex underlies our perception of a visual scene. As an undergraduate, she studied Biology and Epistemology in Paris. She then obtained a European PhD in Neuroscience from the University Paris-VI and the Ruhr-Universität-Bochum and did her post-doctoral training at the Technical University in Munich. Her work during …

Researcher in Spotlight – Richard Chin

In our website feature “Researcher in Spotlight” this month we ask our researcher Richard Chin to tell us a bit more about himself. Could you give us a quick overview of your background and career so far? I graduated in medicine from the University of the West Indies and came to the UK on a Commonwealth Fellowship in Paediatric Neurology. I did my PhD in Neurosciences at the Institute of Child Health, University College London before taking up an NIHR …

SIDB Annual Research Retreat 2019

The SIDB recently held it’s Annual Research Retreat. This included a two-day programme of presentations, discussion and interactive dialogue, which took place from 12-13 September 2019 in Edinburgh. The event brought together around 150 VIP guests, autism academics and PhD students to present some of their most recent work in the field of autism and to discuss future development and research plans. It also provided a valuable networking opportunity and set the stage for further collaboration between academics working in …

Researcher in Spotlight – Mike Cousin

In our website feature “Researcher in Spotlight” this month we ask our researcher Mike Cousin to tell us a bit more about himself. Could you give us a quick overview of your background and career so far? After graduating from the University of Edinburgh (Biochemistry), I completed a PhD (Biochemistry again) at the University of Dundee.  After continuing my postdoctoral training at the Neurosciences Institute in Dundee, I won two fellowships (Royal Society / Human Frontiers of Science) to work …

Cycling 500 miles across Ireland to raise money for the Patrick Wild Centre

A big thank you to James Waterson and Alastair Dickie who cycled 500 miles across Ireland to raise money in aid of The Patrick Wild Centre. James’s son Harry has Fragile X Syndrome – he was the motivation to take on this fundraising challenge. James and Alastair cycled 500 miles from Mizen to Malin Head on the Atlantic Coast of Ireland to raise awareness and funding for the Patrick Wild Centre for Research into Autism, Fragile X Syndrome and Intellectual …

Fragile X-associated conditions: implications for the whole family

Colleagues from the Patrick Wild Centre have recently published a paper in BJGP journal with the focus on Fragile X Syndrome (FXS) in primary care. It argues that clinicians in primary care should be aware of the condition and in particular be vigilant for common comorbidities to allow for early treatment. It points out that the familial nature of FXS is of importance to general practice. The article summarises the common issues for individuals with FXS and carriers of the …

First SYNGAP1 UK Family Meet Up

The Patrick Wild Centre was excited to host the first UK SYNGAP1 Family Meet Up in June 2019!  Families from around the UK and other parts of Europe came together in Edinburgh for a day of presentations about SYNGAP1 and neurodevelopmental disorders more generally.  Distinguished speakers from many different National Health Service, university and charitable organisations shared their expertise.  They covered everything from laboratory science SYNGAP1 studies to the SYNGAP1 Syndrome in people, the mapping out of SYNGAP1 clinical research …

Launch of the Neuro-GD Study

Dr Andy Stanfield is pleased to announce the launch of the Neuro-GD study which aims to better understand the clinical features of people with genetic conditions associated with intellectual disability and autism.  The initial focus is on SYNGAP1 related intellectual disability and fragile X syndrome but more conditions will be added. For more information click here.

Statin may be used to treat Fragile X Syndrome

Published

Co-Director of the Patrick Wild Centre Professor Peter Kind and colleagues have recently published a study showing that a drug named lovastatin, which is commonly used to lower cholesterol, corrected learning and memory problems in rats with a form of Fragile X Syndrome. Rats were treated with the drug for four weeks during infancy, but the benefits persisted for months afterwards. Fragile X Syndrome is one of the most common genetic causes of intellectual disability, and is often associated with …

Researcher in Spotlight – Stuart Cobb

in our website feature “Researcher in Spotlight” this month we ask our researcher Stuart Cobb to tell us a bit more about himself Could you give us a quick overview of your background and career so far? I graduated in Pharmacology from the University of Glasgow, having studied the first part of my degree at Queen’s University, Canada. I then moved to the University of Oxford to conduct early studies on the role of interneurons in brain oscillations. I continued …

A novel mechanism for timing of neuronal activity

Derek Garden, Marlies Oostland, Ian Duguid, Matt Nolan and colleagues have published a study demonstrating a novel mechanism for timing of neuronal activity. The study suggests new directions for research into mechanisms for cognitive deficits in psychiatric disorders. The study focusses on a relatively under-explored brain area called the inferior olive. Neurons in this area are a key coordinator of activity in the cerebellum, forming a system that is well studied for its role in movement and that is also …

Researcher in Spotlight – Adrian Bird

In our website feature “Researcher in Spotlight” this month we ask our researcher Adrian Bird to tell us a bit more about himself.   Could you give us a quick overview of your background and career so far? I have held the Buchanan Chair of Genetics since 1990. I graduated in Biochemistry from the University of Sussex and obtained a PhD in Edinburgh. That was followed by postdoctoral experience at Yale and Zurich Universities, after which I joined the MRC …

Researcher in Spotlight – James Boardman

Published

In our website feature “Researcher in Spotlight” this month we ask our researcher James Boardman to tell us a bit more about himself. Could you give us a quick overview of your background and career so far? I studied medicine at UCL and took an intercalated BSc in Neuroscience during this time. I completed postgraduate paediatric training in London, including a part-time MSc in clinical paediatrics at UCL, and then took time out of the clinic to do my PhD …

Insights into depression could aid development of new treatments

Published

Dr Christos Gkogkas and colleagues have published a study that may shed light on why a certain category of antidepressant drugs stop working in some people. They have pinpointed a key molecule, eIF4E, that may protect the brain from depression.  The team studied mice that were bred to have defects in their ability to activate eIF4E and these animals showed signs of depression, including reduced levels of the hormone serotonin, which is a hallmark of the condition.  The mice also showed …

Researcher in Spotlight – Sue Fletcher-Watson

Published

In our website feature “Researcher in Spotlight” this month we ask our researcher Sue Fletcher-Watson to tell us a bit more about herself. Could you give us a quick overview of your background and career so far? I am a senior research fellow in developmental psychology, and the vast majority of my research has been with and for the autism community. I started out as a PhD student exploring the spontaneous looking patterns of autistic adults viewing photographs. Since then …

Researcher in Spotlight – Christos Gkogkas

In our website feature “Researcher in Spotlight” this month we ask our researcher Christos Gkogkas to tell us a bit more about himself. Could you give us a quick overview of your background and career so far? I got my BSc from the Biology Department at the University of Athens, Greece and then went on to do an MSc by Research in Neuroinformatics, followed by a PhD in Neurobiology at the University of Edinburgh. I then did a postdoc at …

Map showing molecular make-up of brain

Professor Seth Grant, Professor Douglas Armstrong and colleagues in Edinburgh and at the Lilly Research Centre (Surrey), have analysed the molecules produced at synapses in various parts of the brain and found that varying compositions correspond to brain functions. The team found that this map can now bridge the gap between genetic studies and findings from brain imaging. The study was based on post mortem brain tissue samples from healthy people held in the Medical Research Council’s Edinburgh Brain Bank. …

Researcher in Spotlight – Sonya Campbell

In our website feature “Researcher in Spotlight” this month we ask our researcher Sonya Campbell to tell us a bit more about herself. Could you give us a quick overview of your background and career so far? My first degree was in Health Psychology, my Masters in Cognitive Neuropsychology, and my Doctorate in Clinical Psychology. Since qualifying, I have worked clinically in the NHS with individuals with mental health problems, chronic long-term health issues and neurodevelopmental disorders. In 2012, I …

Fragile X Syndrome Research Workshop 2018

The Fragile X Syndrome Research Workshop will be held in Edinburgh on 21st May. This year’s workshop is a collaboration between the Fragile X Society and the Patrick Wild Centre at the University of Edinburgh. The aim of the workshop is to bring together the research community who are either currently involved in, or who are interested in, fragile X syndrome research. The aim is to promote further interactions amongst UK-based (and EU-based) researchers who investigate the condition, with a …

CDKL5 Variants: Improving our understanding of a rare neurological disorder

Dr Ralph Hector, a researcher fellow in the lab of Dr Stuart Cobb has recently had a paper published in the journal Neurology Genetics on improving our understanding of the rare neurological disorder, CDKL5. This is a study of all the genetic variants we see in the CDKL5 gene, in patients with CDKL5 deficiency and in the general population. The study, a collaboration with clinicians in Europe, USA and Australia, analysed data from recent large-scale studies in which thousands of people in …

Age-related changes detected using functional MRI in FMR1 premutation carriers

Patrick Wild Centre PhD Student Stephanie Brown and colleagues have recently published a new paper on age-related changes in FMR1 premutation carriers. The FMR1 gene is located on the X chromosome, and an expansion of the gene structure is known as the FMR1 premutation. Carriers of the FMR1 premutation may develop a disease in later life called the fragile X-associated tremor/ataxia syndrome (FXTAS), which involves progressive symptoms of shakiness, loss of co-ordination and learning and memory problems. The present study …

Researcher in Spotlight – Bonnie Auyeung

In our website feature “Researcher in Spotlight” this month we ask our researcher Bonnie Auyeung to tell us a bit more about herself. Could you give us a quick overview of your background and career so far? After completing my undergraduate degree in Psychology in California, I joined UCLA where I focused on developing measures of attention in children with autism spectrum conditions. From there I came to the UK, where I completed a PhD examining biological factors affecting autism …

Edinburgh Neuroscience Christmas Public Lecture

Understanding Disorders of the Developing Brain in the 21st Century – by Professor Peter Kind 13 December, 6-7pm, Anatomy Lecture Theatre Please join us for the Neuroscience Christmas Public Lecture, which will be delivered by Professor Peter Kind, Director of the Patrick Wild Centre. Autism Spectrum Disorders and Intellectual Disabilities affect 1-2% of our population yet we still have no rational therapeutic intervention to help affected individuals. Despite the current lack of medicines, novel technologies in the fields of genetics, …

‘Mini-gene’ therapy relieves features of Rett syndrome in mice

Delivering a fragment of the Rett syndrome gene, MECP2, into neurons eases features of the syndrome in mice, according to a new study by Adrian Bird and Stuart Cobb of the Patrick Wild Centre which appeared in the journal Nature. The MECP2 protein is a master regulator of other genes, and a lack of it leads to Rett syndrome. A portion of the protein is known to play a critical role in regulating other genes. Activating a ‘mini-gene’ that encodes …

Researcher in Spotlight – Cathy Abbott

The Patrick Wild Centre is starting a new regular feature on its website called “Researcher in Spotlight”, where we ask our researchers to tell us a bit more about themselves. First up is Cathy Abbott. Could you give us a quick overview of your background and career so far? I did my first degree in Pathobiology, then a PhD in Biochemical Genetics – I did the biochemistry bits at Reading University and the mouse genetics at MRC Harwell. I then …

A genetic timetable of the brain’s ageing process

Professor Seth Grant and colleagues have published a study in eLIFE suggesting the existence of a genetic programme that controls the way our brain changes throughout life. The programme controls how and when brain genes are expressed at different times in a person’s life to perform a range of functions. The timing is so precise that the researchers can tell the age of a person by looking at the genes that are expressed in a sample of brain tissue. Scientists …

Fragile X Syndrome: Educate to Empower Workshops

A series of joint workshops run by the Fragile X Society in collaboration with the Patrick Wild Centre The Patrick Wild Centre and the Fragile X Society have collaborated to produce a new resource pack for families newly diagnosed with fragile X syndrome.  To launch the pack they are conducting a series of workshops around Scotland targeted at relevant health professionals.  They aim to raise awareness of fragile X syndrome and the importance of accurate and timely diagnosis. You can …

Contrasting mechanisms underlie similar looking social differences in the autism and schizophrenia spectrums

It is well known that people with autism spectrum disorders (ASD) process social information differently from typically developing individuals.  Interestingly, people with certain other conditions, including schizophrenia spectrum disorders, also show differences in their social processing.  However, it is not known whether these differences actually arise from the same underlying mechanism, i.e. whether they are the same between the conditions, or whether they just look the same.   We therefore set out to examine brain activity during social judgements in …

New study on how autism is portrayed in film and TV

Dr Sue Fletcher-Watson (Centre for Clinical Brain Sciences), along with colleagues at the University of Oslo, has recently published an article in Psychiatry Research dissecting portrayals of autism on film and TV. They found that representations of autism on screen align unrealistically-perfectly with the diagnostic criteria, making portrayals of autism archetypal, but not representative. This may be contributing to narrow stereotypes about autism, which in turn is expected to impact on the day to day experiences of people on the autism spectrum. Further …