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Newsletter N°7 – December 2017

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Newsletter N°7 – December 2017 NEWSLETTER N°7 – DECEMBER 2017 During September 2017 Site-Visit 22q11DS cohort reaches maturity As Synapsy is addressing 22q11 deletion syndrome and schizophrenia in its seventh Newsletter, the 22q11 cohort is reaching maturity, poised to deliver the fruits of a successful synergy between clinical work and fundamental research. Synapsy looks back at the origins of the cohort and discusses its promising future with Stephan Eliez. like a Swiss watch the disease.” Today, there is nowhere we can now set up cross-validation Stephan Eliez returned from else in the world which brings every- protocols between observations made Stanford, California in 2001 to start thing together around the same cohort: on mice and human observations.” In work as an independent researcher in genetics, EEG, brain imaging, cognitive the third phase of Synapsy, pre-symp- Geneva. Armed with the experience of neuroscience and clinical work. “It is the tomatic patients will be treated during setting up a first cohort of 30 patients logic of the Swiss watch, where every the right neurodevelopmental time- with 22q11 deletion syndrome in the part is machined and nested with ex- window to avoid loss of hippocampal United States, Eliez repeated the experi- treme precision. It is a way of differen- differentiation with the same drug ment as soon as he arrived. His aim was tiating our cohorts from other cohorts approaches identified by the funda- to use genetics and imaging to quantify with larger funding support,” adds the mental neuroscientists. Conversely, the the symptoms of schizophrenia clini- professor. resilience factors observed in humans cally. The future Synapsy research was will be studied in mice. Three axes will in line with Eliez’s vision, namely to find be looked at in detail: (i) stress and its a correlation between human clinical impact on key neural circuits; (ii) canna- data and the fundamental mechanisms bis and the link between consumption detected in animal models at the mo- and the development of schizophrenia; lecular and cellular levels as well as at and (iii) medication designed to protect the level of neuronal networks. It made the mechanisms of parvalbumin neuron perfect sense for Eliez to take part in functioning in connection with the stud- developing the Synapsy project with Stephan Eliez Stephan ies of the Carleton and Caroni groups. Pierre Magistretti, Dominique Muller Synapsy and its 22q11DS cohort are and others in 2010, as Eliez himself Huge potential within reach explains: “Synapsy was the unique entering a key phase where the use of opportunity to understand the physi- In the first two phases of the Synapsy the animal model will be geared towards ological and patho-physiological project, Work Package 1 (WP#1) suc- clinical work. “We are going to test the mechanisms related to 22q11DS; it was ceeded in establishing a resonance be- differences with an undeniable advan- the missing link between genetics and tween the human cohort and the mouse tage: the rapid brain development of the the neurodevelopmental phenotype of lineages. This link, explains Eliez, “means mouse model,” concludes Eliez.□ N°7 – DECEMBER 2017 NEWSLETTER Bringing Together Brain Research and Psychiatry NATIONAL CENTRE OF COMPETENCE IN RESEARCH (NCCR) SYNAPSY Naonal Centre of Competence in Research Editor Contact NCCR SYNAPSY NCCR SYNAPSY MANAGEMENT TEAM CAMPUS BIOTECH CH. DES MINES 9 Texts & Photos 1202 GENEVA YANN BERNARDINELLI (YB) SWITZERLAND Print +41 21 379 11 21 REPROGRAPHIE UNIMAIL [email protected] nccr-synapsy.ch NEWSLETTER N°7 – DECEMBER 2017 NEWSLETTER N°7 – DECEMBER 2017 HIGHLIGHT PSYCHIATRY : 5 QUESTIONS FOR As a biologist, why did you choose to Therefore, I will soon start a postdoc in CLINICAL COHORT work on a clinical topic? Pico Caroni’s lab, while continuing the Before starting my thesis, I worked collaboration with Stephan Eliez and the with murine models but wanted to work on brain imaging. In the long term, Maria Padula move closer to clinical work and people. I would love to carry on with mouse- The group run by Stephan Eliez was a patient models. In my opinion, the ideal real opportunity for doing just that, and situation for this type of research would Maria Padula studied biology at the it was really lucky for a neuroscientist to be to have a single person who mas- Perceiving schizophrenia University of Salento Lecce in Italy before be able to access clinical work. ters the clinical and fundamental sides obtaining a master’s degree in neurobi- What did you gain from interacting rather than having a specialist in each ology at the University of Pisa. Maria with patients? setting. I’m trying to ensure that I have joined Stephan Eliez’s group in 2013 for I felt that I could contribute to help- the profile to be the person wearing One in every 100 children develops schizophrenia in adulthood. But her PhD thesis in Neurosciences, which ing these people. Contact with patients these two hats but, since I’m neither a psychologist nor a psychiatrist, it will not how can we know which children? Brain-imaging studies performed on she obtained with great distinction in makes things more concrete compared to basic research. be easy to manage the clinical aspects. the 22q11ds at-risk population provide some preliminary answers. September 2017. What role has fundamental neurosci- It would be ideal if neuroscientists could have access to clinical work, with the In Switzerland, as elsewhere, one per the intellectual and cerebral develop- When the cohort was being estab- ence played in setting up clinical trials? necessary training. Today, in my opinion, cent of the general population devel- ment of future schizophrenics. Stephan lished, the diagnostic tools consisted I had lots of interactions with neu- the only possibility is to obtain an addi- ops schizophrenia around the age of 20. Eliez points out that even the cohort of IQ tests and a clinical interview. “We roscientists during my PhD. We collabo- tional degree in medicine or psychology. The ability to predict which children are supplied by Dunedin (the famous New needed tools to characterize the illness rated a great deal with the group led likely to develop the illness on the basis Zealand study) –1,037 individuals fol- as close as possible to the neurodevel- by Francesco Papaleo, in Italy and with What do you think of Synapsy? of neurobiological, genetic, psychologi- lowed from the ages of 7 to 30– only opmental phenotype,” explains Eliez. Pico Caroni’s lab. What’s more, a trans- The “Synapsy” approach is highly cal and cognitive phenotypes would help gave rise to twenty schizophrenics. It follows that, over the last 15 years, lational study is in progress in collabora- pertinent because it is clearly the future further our understanding of the patho- “Obviously, it’s not viable statistically,” the cohort has benefited from the im- tion with Pico’s lab where we use the of clinical work and neuroscience. In my logical mechanisms and ensure early says Eliez. The solution lies in analyzing plementation of new technologies by same behavioral paradigms in humans opinion, you can’t understand mental patient care. It would also make it pos- an at-risk population to increase the his research group. Eliez, supported by as in mice, involving tasks on memory diseases without understanding the sible to assess the effectiveness of new probabilities. 30% of people carrying Marie Schaer (his student at the time), and mental flexibility. In addition, the basic mechanisms. As the collabora- results obtained in the murine model treatments before the illness occurs. the 22q11 microdeletion chromosome introduced (inter alia) eye-tracking and tion that we developed within Synapsy contributed to the development of an In this context, brain imaging and other abnormality (22q11DS) become schizo- a new approach to neuro-imaging – the shows, this kind of research is really ongoing clinical trial in patients with quantitative neuro-functional assess- phrenic between 14 and 23 years of age, gyrification index – to assess the thick- promising in promoting the develop- ness, volume, area and cerebral folding 22q11.2 deletion syndrome. ment tools (EEG, Eye tracking, etc.) is and it is on this basis that Eliez made the ment of treatments. The two disciplines in an integrated manner. Eliez explains the preferred investigative technique logical decision to choose this at-risk What are your future career plans? are becoming increasingly linked, so that these tools are a real asset for the for identifying biomarkers of the illness. population when setting up in Geneva After four years of clinical research, I much so that you can’t do one without cohort. In addition, the longitudinal would like to switch to the fundamental the other. At the same time, a mouse in 2001. Today, thanks to his colossal nature of the study makes it unique in A tailor-made cohort recruitment work via Swiss, Belgian, neurosciences so that I can maintain a will never be a human being, therefore the world since brain-imaging measure- profile that is highly translational and it remains challenging to interpret the The prevalence of 1%, although sig- French, English and Irish patient asso- Maria Padula ments have been conducted up to five become an expert in both aspects. translational findings!□ nificant in epidemiological terms, is not ciations, Eliez’s 22q11DS cohort is highly times on some patients, from the age high enough to make it easy to follow conducive to studying schizophrenia. of 4 to 30 years. Despite appearances, not everything patients with high symptoms, that have results correlate with the EEG data col- The heterogeneity of 22q11 was easy for this young researcher at a greater risk of developing schizophre- lected by the team led by Christoph As such were the conditions in which the outset.
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