Short-term Scientific Missions (STSM) for MINDDS

Next deadline 30th November 2018

Short Term Scientific Missions (STSM) are aimed at supporting individual mobility and at strengthening the existing networks and fostering collaborations by allowing scientists to visit an institution or laboratory in another Participating COST Country, or in approved COST Near Neighbour Countries (NNC) Institutions or in approved International Partners Countries (IPC) institutions.

A STSM should specifically contribute to the scientific objectives of the COST Action, while at the same time allowing applicants to learn new techniques or gain access to specific instruments and/or methods not available in their own institutions. STSM applicants must be engaged in an official research programme as a PhD Student or postdoctoral fellow or can be employed by, or affiliated to, an Institution or legal entity which has within its remit a clear association with performing research. The institutions / organisations where applicants pursue their main strand of research are considered as Home institutions. The Host institution is the institution / organisation that will host the successful applicant.

Both recipients (to whom the award is given) and the host (individual providing the STSM) submit to the STSM Coordinator an application describing the cost break down and purpose for the STSM. Core group will check them for being permissible and appropriate.

  • duration: 5 – 90 days;
  • max. grant of 2500 Euro (up to 160 Euro per day).

Early Career Investigators (ECI) (ECI: see http://www.cost.eu/Vademecum) may extend the STSM beyond 90 days. For such STSMs, following rules apply:

  • duration: 91 – 180 days;
  • max. grant of 3500 Euro (again: up to 160 Euro per day).

Realistic budget planning is one of the major criteria for the application ranking.

Gender, geography, ESR balance and qualifications of the applicant will be taken into consideration when evaluating the proposals.

Applications should be in line with the action objectives and scientific activities as stated in COST Action CA16210 Memorandum of Understanding.

After the STSM: Immediately after the completion of STSM (within 30 days after the end date of the STSM), the grantee is required to upload a scientific report to the eCOST platform (applicant is notified) and the host approval containing:

  • Purpose of the STSM;
  • Description of the work carried out during the STSM;
  • Description of the main results obtained;
  • Future collaboration with host institution (if applicable);
  • Foreseen publications/articles resulting or to result from the STSM (if applicable);
  • Confirmation by the host institution of the successful execution of the STSM.

In order to apply for the STSM the applicant should prepare an application as follows:

  • Obtain the written agreement from the host institution that the STSM applicant can perform the activities detailed in the STSM work plan on the agreed dates;
  • Obtain a letter of support from the home institution,
  • Prepare: two page project proposal, describing the foreseen activities, following the classical scheme: Objectives, State of the Art, Project Work-plan, Deliverables,
  • Full CV, including list of applicant publications or motivation letter,
  • Complete the online application form (see https://e-services.cost.eu/stsm) and upload all the requested documents;
  • Motivation letter.

Interested applicants should send their applications to the STSM host institution and to the STSM Coordinator, Assoc. Prof. Silvana Markovska-Simoska, email: silvana@manu.edu.mk. A copy (CC:) should be sent to Action Chair: harwoodaj@cardiff.ac.uk Subject of the email should start with “COST CA16210 – STSM application”

The ranking criteria are:

  • scientific quality and originality/novelty;
  • feasibility of the approach and realistic planning of the application;
  • benefit of the STSM (added-value for the applicant, host and home institutions, and COST Action MINDDS).

Past STSMs

Applicant: Danijela Drakulic – Institute of molecular genetics and genetic engineering (IMGGE), Belgrade (RS)
Host: Adrian Harwood – NMHRI, Cardiff, UK
Title: Collection, generation and analysis of patient induced pluripotent stem cells (iPSC) for the study of neurodevelopmental disorders

Summary
Researchers from IMGGE, University of Belgrade have little expertise in a collection, generation, differentiation and analysis of iPSC. This two week STSM enabled training at NMHRI, where there is an established programme of iPSC generation and analysis i of NDD patient. Experience was gained in collection of cells from patients with neurodevelopmental disorders; biobanking; generation of iPSC; validation and characterization of iPSC cells; neural differentiation of iPSC; usage CRISPR/Cas technologies for genome editing and cell-based assays for analysis of neurons obtained from iPSCs (MicroElectrode Array). Additional knowledge was acquired on the ethical considerations necessary to be implemented in order to use of patient’ cells for reprogramming and research of molecular mechanisms underlying NDD.

Applicant: Mares Verbrugge – Erasmus University, Rotterdam (NL)
Title: Towards an ethical, legal and societal issues (ELSI) framework for MINDDS.
Host: Prof Marianne van den Bree, Cardiff University (UK)

Summary
The following activities were undertaken during a 1 week mission to Cardiff University:

  1. Learnt how psychiatric and neurological assessments of research participants are conducted (Marianne van den Bree, MRC- Centre for Neuropsychiatric Genetics and Genomics).
  2. Gained experience with the UK clinical care pathways for children with NDDs in paediatric and clinical genetics clinics (Jeremy Hall, Neuroscience and Mental Health Research Institute (NMHRI)).
  3. Discussed the ethical, legal and social issues (ELSI) arising from the NDD research (Angus Clarke Centre for Applied Ethics).
  4. Learnt how induced pluripotent stem cells (iPSC) are collected and generated from patients with neurodevelopmental disorders (NDD). (Adrian Harwood,NMHRI)

Applicant: Severin Rakic – Public Health Institute of Republic of Srpska, Banjaluka (BA)
Host: Domenica Taruscio – National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome (IT)
Title: Establishment of rare diseases registries able to support neurodevelopmental disorders (NDD) research

    

Summary
At the moment, patients with the rare NDD from the Republic of Srpska/Bosnia and Herzegovina cannot be recruited for participation in the pan-European NDD patient cohorts, as they cannot be identified (no national registry on rare diseases’ patients is established and only one university hospital has a clinical registry). The ten days STMS provided an opportunity for learning about (1) the Host’s experiences in setting up rare diseases’ registries, as a platform that can support research on rare NDD patients and (2) application of FAIR principles (Findable, Accessible, Interoperable, Reusable) in establishment of the rare diseases’ registries in compliance with IRDiRC and EU recommendations. Part of the STSM took place during the period when the Host institution organised the “6th International Summer School on Rare Diseases and Orphan Drugs Registries”, allowing the learning and knowledge exchange to benefit from the interactive problem-based approach and group learning. Applicant gained understanding of development process and structure of Host’s platform (RegistRare), used to support the research on rare diseases; development process and structure of congenital malformations registry, interoperable with EUROCAT; building of the registry team; building relationships with researchers and other users of the registry data; organisation of training for registry users; organisation of the national help-line on rare diseases for health professionals, patients and families; neonatal screening for rare metabolic diseases; international networking related to undiagnosed rare diseases; and role of the Host in the external quality assessment in genetic testing in Italy. Additional knowledge was acquired on European platform on rare diseases registration, national registries for rare diseases, application on FAIR principles to registries, role of patients (ePAGs), Orphanet nomenclature, clinical data models and terminology, privacy preserving record linkages, and governance, sustainability, data quality and legal issues in registry keeping, including data sharing under the EU GDPR.

Grantee name: Gjorgji Bozhinovski
STSM title: aCGH in detection of CNVs in neurodevelopmental disorders
Host: Prof. Joris R. Vermeeschl, Laboratory for Cytogenetics and Genome Research, Department of Human Genetics, KU Leuven, Leuven, Belgium
STSM start and end date: 01/10/2018 to 30/10/2018

Short STSM summary:
The main goal of this Short Term Scientific Mission (STSM) was to learn how the copy number variations (CNVs) in the genome are detected, analysed and interpreted in cases with neurodevelopmental disorders.
This main goal of this STSM was achieved in the Laboratory for Cytogenetic and Genome Research, KU Leuven, Leuven, Belgium, where I was introduced and trained about the laboratory procedures and protocols used in their laboratory for detection and analysis of the detected CNVs. Furthermore, special focus was held on the classification and interpretation of the obtained CNVs and their use in the diagnostics procedures, especially in neurodevelopmental disorders.

Grantee name: Silvana Markovska-Simoska
STSM title: ENDOPHENOTYPE – THE NEW DIMENSION IN CLINICAL PHENOTYPING OF NEURODEVELOPMENTAL DISORDERS
Host: Dr. Phil. Andreas Müller, Brain assessment research Centre (BrainARC)-Chur, as a part of the Brain and Traumafoundation Grison/Switzerland
STSM start and end date: 21/03/2019 to 31/03/2019

Short STSM summary:
The BrainARC Centre where I have completed the current STSM is the referent center for use of neurophysiological biomarkers in ADHD field. Now they are trying to make successful neuroalgorhithms combination with the genetical biomarker of several NDD with putting the most attention to ADHD. During the STSM we have talked and analysed the results from the molecular genetics of ADHD as an evolving field. Nevertheless, studies have reported many candidate genes to be associated with the disorder. From the available literature, it can be seen that possible signature sets of biomarkers for ADHD diagnosis has been developed. Genomic, neurophysiological/neuropsychological, neuroimaging, pharmacogenomics and proteomic data were reviewed. We were discussed of possible future project proposals concerning the link between endophenotype biomarkers (in particular working memory, selective attention vigilance/sustained attention, attention index, theta/beta ratio, reaction time variability and neuropsychological endophenotypes) and on the other side variants in DAT1 and DRD4 genes as the best candidates and useful biomarkers for their associations to neuropsychological tasks, activation in specific brain areas, methylphenidate response and gene expression levels. In this direction, we also considered the noradrenergic system (norepinephrine transporter, norepinephrine, 3-methoxy-4-hydroxyphenylglycol, monoamine oxidase, neuropeptide Y) for their altered peripheral levels, their association with neuropsychological tasks performances, symptomatology drug effect, arousal indexes and brain function.
In the praxis I also had the possibility to do all this comprehensive neuropsychophysiological clarification through interviews with real NDD patients, situation analysis, anamnesis, neuropsychological tests, questionnaires and biomarker acquisition by QEEG / ERP. I was present to parents consulting sessions where the combination of biological and neurophysiological data were presented to them, and giving them completely new insights in the connections between biology, emotions, thinking and behavior of their children.
I hope that the knowledge that I have obtained during this STSM will be very applicable to the work of the WG2 of MINDDS COST Action. This is in line with one of the main aims of the working group, and will make contribution to the definition of the endophenotypes of many NDD, optimal methods for treating and of golden standard in order to make biomarkers available in personalized medicine. With the help of neuropsychological and neurophysiological methods we will have insight into the appropriate parameters that serve as markers of the success of the applied appropriate therapeutic procedure.
I would like to use this opportunity to thank COST Office and especially to my host, Dr. phil. Andreas Müller for his kindness and hospitality and sharing with me unselfishly his experience and knowledge, the support and the helpful advices provided me during this STSM.



Dr. Phil. Andreas Müller and Dr. Silvana Markovska-Simoska

Applicant: Yumi Dille
Title: Phenotypic assessment of Pediatric patients with psychiatric risk copy number variants (ND-CNVs)
Host: Prof Marianne Van Den Bree and Dr. Samuel Chawner

Early detection, multidisciplinary treatment and the correct use of assessments is a crucial and very important step for the development of high-quality, patient-centered care and the support of children/adults with rare genetic disorders and their families. The ECHO and IMAGINE-ID research team welcomed the applicant (Yumi Dille) from the 6th of August till the 1st of September at the MRC Centre for Neuropsychiatric Genetics &Genomics, Cardiff University. At the end of the STSM the applicant finished a preliminary analysis delineating the Neurocognitive and Psychiatric Phenotype of Kleefstra Syndrome, understanding the importance of collaboration between Universities and Research institutes.

Summary

  • Learnt about the latest research happening in the Cardiff group through attending talks and weekly meetings
  • Learnt about the neurobiological background of neurogenetic conditions and molecular genomics research
  • Gained experience with the UK clinical care pathways for Pediatric patients with rare genetic conditions
  • Discussed the ethical aspects of genomics research and learned about the everyday practice of a genetic counselor
  • Learnt more about the clinical phenotypes of CNV carriers and how to carry out psychiatric and neurological assessments of individuals with ND-CNVs

The STSM came to an end attending the MaxAppeal! conference in Birmingham. 
Covering issues affecting children and adults with 22q Deletion syndrome, learning about patient perspective and current research developments.