Project

COST Action CA16118 - European Network on Brain Malformations

Goal: This COST Action will, for the first time, bring together clinicians and researchers in the field of brain malformations, to create the interdisciplinary, pan-European Network Neuro-MIG, advancing the understanding of MCD pathophysiology and translating this knowledge to improve the diagnostic and clinical management of the patients. This Action will harmonise MCD classification, based on the advances in genetics and neuroimaging, develop guidelines for clinical management, create best practice diagnostic pathways, coordinate databases from different countries to utilize them for collective research initiatives aimed at developing appropriate therapies, identify common pathophysiological mechanisms through collaborations, educate young clinicians and scientists, and stimulate translational and transnational exchange. This Action will join forces of MCD experts to reduce health care costs and increase the quality of life of the affected individuals and their families.

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Ivana Pogledic
added 2 research items
Malformations of cortical development are a group of rare disorders commonly manifesting with developmental delay, cerebral palsy or seizures. The neurological outcome is extremely variable depending on the type, extent and severity of the malformation and the involved genetic pathways of brain development. Neuroimaging plays an essential role in the diagnosis of these malformations, but several issues regarding malformations of cortical development definitions and classification remain unclear. The purpose of this consensus statement is to provide standardized malformations of cortical development terminology and classification for neuroradiological pattern interpretation. A committee of international experts in paediatric neuroradiology prepared systematic literature reviews and formulated neuroimaging recommendations in collaboration with geneticists, paediatric neurologists and pathologists during consensus meetings in the context of the European Network Neuro-MIG initiative on Brain Malformations (https://www.neuro-mig.org/). Malformations of cortical development neuroimaging features and practical recommendations are provided to aid both expert and non-expert radiologists and neurologists who may encounter patients with malformations of cortical development in their practice, with the aim of improving malformations of cortical development diagnosis and imaging interpretation worldwide.
In this study we compare temporal lobe (TL) signal intensity (SI) profiles, along with the average thicknesses of the transient zones obtained from postmortem MRI (pMRI) scans and corresponding histological slices, to the frontal lobe (FL) SI and zone thicknesses, in normal fetal brains. The purpose was to assess the synchronization of the corticogenetic processes in different brain lobes. Nine postmortem human fetal brains without cerebral pathologies, from 19 to 24 weeks of gestation (GW) were analyzed on T2-weighted 3T pMRI, at the coronal level of the thalamus and basal ganglia. The SI profiles of the transient zones in the TL correlate well spatially and temporally to the signal intensity profile of the FL. During the examined period, in the TL, the intermediate and subventricular zone are about the size of the subplate zone (SP), while the superficial SP demonstrates the highest signal intensity. The correlation of the SI profiles and the distributions of the transient zones in the two brain lobes, indicates a time-aligned histogenesis during this narrow time window. The 3TpMRI enables an assessment of the regularity of lamination patterns in the fetal telencephalic wall, upon comparative evaluation of sizes of the transient developmental zones and the SI profiles of different cortical regions. A knowledge of normal vs. abnormal transient lamination patterns and the SI profiles is a prerequisite for further advancement of the MR diagnostic tools needed for early detection of developmental brain pathologies prenatally, especially mild white matter injuries such as lesions of TL due to prenatal cytomegalovirus infections, or cortical malformations.
Tally Lerman-Sagie
added a research item
Malformations of cortical development (MCD) can frequently be diagnosed at multi-disciplinary Fetal Neurology clinics with the aid of multiplanar neurosonography and MRI. The patients are usually referred following prenatal sonographic screening that raises the suspicion of a possible underlying MCD. These indirect findings include, but are not limited to, ventriculomegaly (lateral ventricles larger than 10 mm), asymmetric ventricles, commissural anomalies, absent cavum septum pellucidum, cerebellar vermian and/or hemispheric anomalies, abnormal head circumference (microcephaly or macrocephaly), multiple CNS malformations, and associated systemic defects. The aim of this paper is to suggest a practical approach to prenatal diagnosis of malformations of cortical development utilizing dedicated neurosonography and MRI, based on the current literature and our own experience. We suggest that an MCD should be suspected in utero when the following intracranial imaging signs are present: abnormal development of the Sylvian fissure; delayed achievement of cortical milestones, premature appearance of sulcation; irregular ventricular borders, abnormal cortical thickness (thick, thin); abnormal shape and orientation of the sulci and gyri; irregular, abnormal, asymmetric, and enlarged hemisphere; simplified cortex; non continuous cortex or cleft; and intraparenchymal echogenic nodules. Following the putative diagnosis of fetal MCD by neurosonography and MRI, when appropriate and possible (depending on gestational age), the imaging diagnosis is supplemented by genetic studies (CMA and trio whole exome sequencing). In some instances, no further studies are required during pregnancy due to the clear dire prognosis and then the genetic evaluation can be deferred after delivery or termination of pregnancy (in countries where allowed).
Tally Lerman-Sagie
added 2 research items
The clinical presentation of bilateral perisylvian polymicrogyria (PMG) is highly variable, including oromotor dysfunction, epilepsy, intellectual disability, and pyramidal signs. Extrapyramidal features are extremely rare. We present four apparently unrelated patients with a unique association of PMG with dystonia. The clinical, genetic, and radiologic features are described and possible mechanisms of dystonia are discussed. All patients were female and two were born to consanguineous families. All presented with early childhood onset dystonia. Other neurologic symptoms and signs classically seen in bilateral perisylvian PMG were observed, including oromotor dysfunction and speech abnormalities ranging from dysarthria to anarthria (4/4), pyramidal signs (3/4), hypotonia (3/4), postnatal microcephaly (1/4), and seizures (1/4). Neuroimaging showed a unique pattern of bilateral PMG with an infolded cortex originating primarily from the perisylvian region in three out of four patients. Whole exome sequencing was performed in two out of four patients and did not reveal pathogenic variants in known genes for cortical malformations or movement disorders. The dystonia seen in our patients is not described in bilateral PMG and suggests an underlying mechanism of impaired connectivity within the motor network or compromised cortical inhibition. The association of bilateral PMG with dystonia in our patients may represent a new neurogenetic disorder.
Background Congenital mirror movements are involuntary movements of a side of the body imitating intentional movements on the opposite side, appearing in early childhood and persisting beyond 7 years of age. Congenital mirror movements are usually idiopathic but have been reported in association with various brain malformations. Methods We describe clinical, genetic, and radiologic features in 9 individuals from 5 families manifesting congenital mirror movements. Results The brain malformations associated with congenital mirror movements were: dysplastic corpus callosum in father and daughter with a heterozygous p.Met1* mutation in DCC; hypoplastic corpus callosum, dysgyria, and malformed vermis in a mother and son with a heterozygous p.Thr312Met mutation in TUBB3; dysplastic corpus callosum, dysgyria, abnormal vermis, and asymmetric ventricles in a father and 2 daughters with a heterozygous p.Arg121Trp mutation in TUBB; hypoplastic corpus callosum, dysgyria, malformed basal ganglia and abnormal vermis in a patient with a heterozygous p.Glu155Asp mutation in TUBA1A; hydrocephalus, hypoplastic corpus callosum, polymicrogyria, and cerebellar cysts in a patient with a homozygous p.Pro312Leu mutation in POMGNT1. Conclusion DCC, TUBB3, TUBB, TUBA1A, POMGNT1 cause abnormal axonal guidance via different mechanisms and result in congenital mirror movements associated with brain malformations.
Anna Jansen
added an update
Full conference program attached!
 
Anna Jansen
added an update
After four years of Neuro-MIG teamwork, it is time for a summary and discussion open to the entire community dealing with interdisciplinary MCD research. We believe that the proposed conference is likely to advance the field in a highly synergistic manner and will contribute to the further development of the Neuro-MIG Network.
Due to the exceptional situation caused by the pandemic of COVID-19, this conference is scheduled online. All the conference proceedings will be held on March 9-11, 2021 via Microsoft Teams.
For more information please visit http://learning.home.amu.edu.pl/neuro-mig/
 
Ute Hehr
added a research item
Malformations of cortical development (MCDs) are neurodevelopmental disorders that result from abnormal development of the cerebral cortex in utero. MCDs place a substantial burden on affected individuals, their families and societies worldwide, as these individuals can experience lifelong drug-resistant epilepsy, cerebral palsy, feeding difficulties, intellectual disability and other neurological and behavioural anomalies. The diagnostic pathway for MCDs is complex owing to wide variations in presentation and aetiology, thereby hampering timely and adequate management. In this article, the international MCD network Neuro-MIG provides consensus recommendations to aid both expert and non-expert clinicians in the diagnostic work-up of MCDs with the aim of improving patient management worldwide. We reviewed the literature on clinical presentation, aetiology and diagnostic approaches for the main MCD subtypes and collected data on current practices and recommendations from clinicians and diagnostic laboratories within Neuro-MIG. We reached consensus by 42 professionals from 20 countries, using expert discussions and a Delphi consensus process. We present a diagnostic workflow that can be applied to any individual with MCD and a comprehensive list of MCD-related genes with their associated phenotypes. The workflow is designed to maximize the diagnostic yield and increase the number of patients receiving personalized care and counselling on prognosis and recurrence risk.
Maarten Lequin
added a research item
EML1 encodes the protein Echinoderm microtubule‐associated protein‐like 1 or EMAP‐1 that binds to the microtubule complex. Mutations in this gene resulting in complex brain malformations have only recently been published with limited clinical descriptions. We provide further clinical and imaging details on three previously published families, and describe two novel unrelated individuals with a homozygous partial EML1 deletion and a homozygous missense variant c.760G>A, p.(Val254Met), respectively. From review of the clinical and imaging data of eight individuals from five families with biallelic EML1 variants, a very consistent imaging phenotype emerges. The clinical syndrome is characterized by mainly neurological features including severe developmental delay, drug‐resistant seizures and visual impairment. On brain imaging there is megalencephaly with a characteristic ribbon‐like subcortical heterotopia combined with partial or complete callosal agenesis and an overlying polymicrogyria‐like cortical malformation. Several of its features can be recognized on prenatal imaging especially the abnormaly formed lateral ventricles, hydrocephalus (in half of the cases) and suspicion of a neuronal migration disorder. In conclusion, biallelic EML1 disease‐causing variants cause a highly specific pattern of congenital brain malformations, severe developmental delay, seizures and visual impairment.
Tally Lerman-Sagie
added a research item
In the middle of March 2019, a group of scientists and clinicians (as well as those who wear both hats) gathered in the green campus of the Weizmann Institute of Science to share recent scientific findings, to establish collaborations, and to discuss future directions for better diagnosis, etiology modeling and treatment of brain malformations. One hundred fifty scientists from twenty-two countries took part in this meeting. Thirty-eight talks were presented and as many as twenty-five posters were displayed. This review is aimed at presenting some of the highlights that the audience was exposed to during the three-day meeting.
Maarten Lequin
added a research item
Sphingomyelinases generate ceramide from sphingomyelin as a second messenger in intracellular signaling pathways involved in cell proliferation, differentiation, or apoptosis. Children from 12 unrelated families presented with microcephaly, simplified gyral pattern of the cortex, hypomyelination, cerebellar hypoplasia, congenital arthrogryposis, and early fetal/postnatal demise. Genomic analysis revealed bi-allelic loss-of-function variants in SMPD4, coding for the neutral sphingomyelinase-3 (nSMase-3/SMPD4). Overexpression of human Myc-tagged SMPD4 showed localization both to the outer nuclear envelope and the ER and additionally revealed interactions with several nuclear pore complex proteins by proteomics analysis. Fibroblasts from affected individuals showed ER cisternae abnormalities, suspected for increased autophagy, and were more susceptible to apoptosis under stress conditions, while treatment with siSMPD4 caused delayed cell cycle progression. Our data show that SMPD4 links homeostasis of membrane sphingolipids to cell fate by regulating the cross-talk between the ER and the outer nuclear envelope, while its loss reveals a pathogenic mechanism in microcephaly.
Michal Klichowski
added a research item
Background: Focal cortical dysplasia (FCD) may vary in size and be located in any area of the human brain. In general, FCD causes epilepsy and it is usually associated with mental retardation. Even in case of epilepsy various types of treatment are identified, there is no complete educational therapy for developmental delays caused by FCD. Moreover, there are no works that synthetically discuss the possibilities of supporting such therapy by technology-based solutions. Method: Here, we investigate this issue using a systematic literature review. Results: Despite the fact that we were dealing with the lack of studies on technology-based educational therapy for students with cognitive problems due to FCD, we point out several potential benefits of this type of assistance. Discussion and conclusions: Our study clearly demonstrates that technology may strongly enhance educational therapy for developmental delays caused by focal cortical dysplasia and that there is a need for further neuro-edu-techno (NET) studies on this topic.
Anna Jansen
added an update
Clinical Management of Brain Malformations
Victor Babes National Institute of Pathology &
Prof.Dr.Alex Obregia Clinical Hospital of Psychiatry
Bucharest - ROMANIA
Program will be announced at the end of July!
 
Anna Jansen
added an update
Specific information concerning STSM
STSMs can have a duration of between 5 days and 90 days (and up to 180 days if the applicant is an ECI – see definition of ECI above). The mission must though occur within the dates above.
The financial support on offer is a contribution to the overall expenses incurred during the STSM
and may not necessarily cover all of the associated outgoings.
The following funding conditions apply and must be respected:
1. up to a maximum of EUR 2 500 in total can be afforded to each successful STSM applicant;
2. up to a maximum of EUR 160 per day can be afforded for accommodation and meal expenses;
3. for ECIs, a maximum amount of EUR 3500 can be afforded to the Grantee for STSMs with a duration of between 91 and 180 days – For ECIs partaking STSMs with a duration of between 5 and 90 days, the limit of EUR 2 500 must be respected;
4. STSM activities must occur in their entirety within the dates specified in this call.
Financial support is limited to cover travel, accommodation and meal expenses and is paid in the form of a Grant.
For this second call in grant period 3, the Management Committee of COST Action 16118 European Network on Brain Malformations has allocated a total budget of 10.000 Euro for up to 4 STSMs. The amounts granted for each individual STSM will be determined during the evaluation process by the formally appointed persons. The selection of applicants is based on the scientific scope of the STSM application, which must clearly compliment the overall objectives of the Action.
How to apply for an STSM:
Interested researchers can apply by following the directions provided below and submitting their application and supporting documents at the COST website and to STSM Coordinator Christina Hoei-Hansen (chh@dadlnet.dk)by the deadline of the August 15th, 2019.
Detailed information attached
 
Anna Jansen
added an update
Participation is free of charge, but due to limited space at the venue, participants are requested to register in advance by email to: neuro-mig@cardiff.ac.uk
CME accreditation has been applied for.
Full program attached
 
Anna Jansen
added an update
4thcall for STSM Applications for Missions Occurring between 01/05/2019 and 30/04/2020.
Interested researchers can apply by following the directions provided below and submitting their application and supporting documents at the COST website and to STSM Coordinator Christina Hoei-Hansen (chh@dadlnet.dk)by the deadline of the April 15th, 2019.
Purpose of a Short-Term Scientific Missions (STSM)
STSM facilitates Researchers from COST Countries participating in COST Action 16118 to go to an institution, organisation or research centre in another participating COST Country to foster collaboration and to perform empirical research. Participation of “Early Career Investigators” (ECI) in STSM is particularly encouraged. An applicant can be considered as being an ECI when the time that has elapsed between the award date of the applicants PhD and the date of the applicants first involvement in the COST Action 16118 does not exceed 8 years. PhD students are also eligible to partake in STSMs.
Specific information concerning STSM
STSMs can have a duration of between 5 days and 90 days (and up to 180 days if the applicant is an ECI – see definition of ECI above). The mission must though occur within the dates above.
The financial support on offer is a contribution to the overall expenses incurred during the STSM
and may not necessarily cover all of the associated outgoings.
The following funding conditions apply and must be respected:
1. up to a maximum of EUR 2 500 in total can be afforded to each successful STSM applicant;
2. up to a maximum of EUR 160 per day can be afforded for accommodation and meal expenses;
3. for ECIs, a maximum amount of EUR 3500 can be afforded to the Grantee for STSMs with a duration of between 91 and 180 days – For ECIs partaking STSMs with a duration of between 5 and 90 days, the limit of EUR 2 500 must be respected;
4. STSM activities must occur in their entirety within the dates specified in this call.
Financial support is limited to cover travel, accommodation and meal expenses and is paid in the form of a Grant.
Further details on how to apply can be find in the attachment.
 
Anna Jansen
added an update
16 May 2019 at 17.30GMT+1
18 July 2019 at 17.30GMT+1
19 September 2019 at 17.30GMT+1
21 November 2019 at 17.30GMT+1
Contact: Maarten Lequin at M.H.Lequin@umcutrecht.nl
 
Anna Jansen
added an update
Working Group 3 meeting: VOUS validation. 31 MAY 2019, Dresden, Germany (Local Organizer: Nataliya Di Donato) 
Working Group 1 and 2 + Management Committee meeting: Standardization of HPO terms for MCD + Prenatal Task Force. 28 JUNE 2019, Barcelona, Spain (Local Organizer: David Gomez Andres)
EPNS Satellite Meeting on MCD.  17 SEPTEMBER 2019, Athens, Greece (Organizing committee: Daniela Pilz, Dina Amron, Nadia Bahi-Buisson, Anna Jansen)
Working Group 3 and 5 meeting + Management Committee Meeting: Work towards a genomic variant review panel. 7 NOVEMBER 2019, Marseille, France (Local Organizer: Carlos Cardoso)
Training School: Clinical management of brain malformations. 5 - 6 MARCH 2020, Bucharest, Romania (Local Organizer: Magdalena Budisteanu)
Working Groups 1+2 meeting: Standardization of MCD clinical and radiologic diagnosis. 16 - 17 APRIL 2020, Utrecht, the Netherlands (Local Organizers: Renske Oegema and Maarten Lequin)
 
Anna Jansen
added an update
Working Group 3 meeting: VOUS validation
31 MAY 2019
Germany
Working Group 1 + Management Committee meeting: Standardization of HPO terms for MCD
28 JUNE 2019
Spain
EPNS Satellite Meeting on MCD
17 SEPTEMBER 2019
Athens, Greece
Working Group 3 meeting: Work towards a genomic variant review panel
7 NOVEMBER 2019
Marseille, France
Training School: Clinical management of brain malformations
5 - 6 MARCH 2020
Bucharest, Romania
Working Groups 1+2 meeting: Standardization of MCD clinical and radiologic diagnosis
9 - 10 APRIL 2020
Utrecht, the Netherlands
Short Term Scientific Missions: 4 x 2.500€
 
Michal Klichowski
added a research item
Background: Focal cortical dysplasia (FCD) may vary in size and be located in any area of the human brain. In general, FCD causes epilepsy and it is usually associated with mental retardation. Even in case of epilepsy various types of treatment are identified, particularly antiepileptic drugs and surgical management, or numerous non-invasive treatments as such as mammalian target of rapamycin inhibitors, ketogenic diet or vagus nerve stimulation, there is no complete educational therapy for developmental delays caused by FCD. Moreover, there are no works that synthetically discuss the possibilities of supporting such therapy by technology-based solutions. Method: Here, we investigate this issue using a systematic literature review. Results: Despite the fact that we were dealing with the lack of studies on technology-based educational therapy for students with cognitive problems due to FCD, we point out several potential benefits of this type of assistance. We also show some examples of the latest IT-tools for educational FCD-therapy. Discussion and conclusions: Our study clearly demonstrates that technology may strongly enhance educational therapy for developmental delays caused by focal cortical dysplasia and that there is a need for further interdisciplinary studies on this topic.
Anna Jansen
added an update
Open to members fromAustria, Belgium, Canada, Czech Republic, Estonia, Finland, France, Germany, Greece, Hungary, Ireland, Israel, Italy, Lithuania, Luxembourg, Poland, Portugal, Slovakia, Spain, Sweden, Switzerland, The Netherlands, Turkey
The aim of the call is to enable scientists in different countries to build an effective collaboration on a common interdisciplinary research project based on complementarities and sharing of expertise, with a clear benefit for patients.
Topic: Research projects to accelerate diagnosis and/or explore disease progression and mechanisms of rare diseases.
The research projects submitted within this call must be based on novel ideas stemming from consolidated previous results or preliminary data and must be clearly endowed with benefit for the patients, i.e. studies allowing a rapid implementation into public health-related decisions or into the clinics.
 
Anna Jansen
added an update
BRAIN MALFORMATIONS: A Roadmap for Future Research.
17-20 March 2019
The David Lopatie Conference Centre, Weizmann Institute of Science, ISRAEL
Registration & abstract submission via http://www.weizmann.ac.il/conferences/BM2019/registration
DEADLINE 17 JANUARY 2019
Reimbursement of registration and traveling is possible for the members of COST Action CA16118 (MC and WG members). 
A limited number of participants sending an abstract will be selected for reimbursement based on the following criteria: 
1) Early Career Scientist (Less than 8 years after PhD/MD) and 
2) home country belonging to the COST Inclusiveness Target Countries (for the list, please visit www.Cost.eu ). 
Those who need financial support for attending the meeting are requested to specify it by an email to irit.veksler@weizmann.ac.il, and cc: orly.reiner@weizmann.ac.il
 
Anna Jansen
added an update
STSM period : 01/02/2019 and 30/04/2019
Application deadline: 15/01/2019
Interested researchers can apply by submitting their application and supporting documents at the COST website and to STSM Coordinator Christina Hoei-Hansen (chh@dadlnet.dk)
Eligibility criteria and details regarding the application procedure attached.
 
Anna Jansen
added an update
Please find here the link to the special issue. 
In general, anybody can submit if fits in the topic and according to the specifications of the journal and issue. 
 
Anna Jansen
added an update
Dear allAttached please find
- Full program for the 2nd Neuro-MIG training course in Novi Sad
- Information for Trainees
- Registration form for trainees
- Information on venue, travel arrangements, and accomodation
Trainees will be asked to prepare at least one case to be discussed on related topics (antenatal/ postnatal cases along with neuroradiological/molecular/histopathological data). They should also prepare 5 slides to present the challenges they encounter in their daily work life which will also cover their home institute’s challenges. They will present, discuss and be ready to integrate the knowledge that they gained through the course to their presentation.
To register as a trainee: Please fill in the registration form and send this together with a recent CV, letter of intent (why you would like to attend; what is your motivation) and a letter of support from your home institution to hkayserili@kuh.ku.edu.tr; capo.ivan@gmail.com; and e.aronica@amc.uva.nl
Registration deadline: 18 NOVEMBER 2018
Please share with all potentially interested trainees!
 
Anna Jansen
added an update
Dear all
Attached please find
- Full program for the 2nd Neuro-MIG training course in Novi Sad
- Information for Trainees
- Registration form for trainees
- Information on venue, travel arrangements, and accomodation
Trainees will be asked to prepare at least one case to be discussed on related topics (antenatal/ postnatal cases along with neuroradiological/molecular/histopathological data). They should also prepare 5 slides to present the challenges they encounter in their daily work life which will also cover their home institute’s challenges. They will present, discuss and be ready to integrate the knowledge that they gained through the course to their presentation.
To register as a trainee:
Please fill in the registration form and send this together with a recent CV, letter of intent (why you would like to attend; what is your motivation) and a letter of support from your home institution to hkayserili@kuh.ku.edu.tr; capo.ivan@gmail.com; and e.aronica@amc.uva.nl
Registration deadline: 11 NOVEMBER 2018
Please share with all potentially interested trainees!
 
Anna Jansen
added an update
Venue: Institute of Histology and Embryology, University of Novi Sad, Serbia
Final program and information on registration/accommodation will follow soon.
 
Anna Jansen
added an update
Registration & abstract submission via the REGISTRATION section on the meeting website http://www.weizmann.ac.il/conferences/BM2019/
DEADLINE 17 JANUARY 2019
 
Anna Jansen
added an update
Deadline for applications EXTENDED : 07/ 09 / 2018 Notification of application outcome: 15 / 09 / 2018 Period of STSM: between 01 / 10 / 2018 and 30 / 04 / 2019 All details attached
 
Orly Reiner
added an update
Anna Jansen
added an update
Deadline for applications to be submitted:01/ 09 / 2018
Notification of application outcome: 15 / 09 / 2018
Period of STSM: between 01 / 10 / 2018 and 30 / 04 / 2019
All details attached
 
Anna Jansen
added an update
Date: June 19th
Venue: MiCo Milano Congressi Piazzale Carlo Magno, 1 Viale Eginardo – GATE 2 – 20149 Milan, Italy Room Yellow-3
Time: 8.45 - 13.30h
Registration: Participation is free of charge, but due to limited space at the venue, participants are requested to register in advance mailing to: neuro-mig@cardiff.ac.uk
Program:
8.45-9.00 Registration
9.00-9.05 Welcome by the Action Chair Grazia Mancini, Rotterdam
Clinical Syndromes associated with brain malformation
9.05-9.30 Dysmorphology Renske Oegema, Utrecht
9.30-9.55 Epilepsy syndromes Renzo Guerrini, Firenze
9.55-10.20 Neurologic syndromes (PNP, myopathy, Mov. Dis.) Anna Jansen, Brussels
10.20-10.40 Coffee break
MRI clues
10.40-11.00 Cortex: lissencephaly+Tubulin vs non-genetic Bill Dobyns, Seattle
11.00-11.20 Megalencephaly and polymicrogyria Ghayda Mirzaa, Seattle
11.20-11.40 Cerebral with cerebellar patterns Mariasavina Severino, Genova
11.40-12.00 Microcephaly Nadia Bahi-Buisson, Paris
Reverse phenotyping: MCD Detection without clinical diagnosis
12.00-12.20 Diagnostic NGS panels versus WES Martina Wilke, Rotterdam
12.20-12.40 Animal models of cortical malformations: from function to pathophysiology Carlos
Cardoso, Marseille
12.40-13.00 Brain organoids in MCD Orly Reiner, Rehovot
13.00-13.20 WES vs WGS and the future Enza Maria Valente, Pavia
13.20-13.20 General discussion
Further information attached or via https://www.neuro-mig.org/node/147
 
Anna Jansen
added an update
Don't miss out on this excellent opportunity to apply for one of the 8 STSM of the Neuro-MIG COST Action Grant Period 2 and improve your knowledge on MCD, train with Neuro-MIG colleagues and foster new research collaborations!
STSM facilitates researchers from COST Countries participating in COST Action 16118 to go to an institution, organisation or research centre in another participating COST Country to foster collaboration and to perform empirical research. Participation of “Early Career Investigators” (ECI) in STSM is particularly encouraged. An applicant can be considered as being an ECI when the time that has elapsed between the award date of the applicants PhD and the date of the applicants first involvement in the COST Action 16118 does not exceed 8 years. PhD students are also eligible to participate in STSMs.
STSMs can have a duration of between 5 days and 90 days (and up to 180 days if the applicant is an ECI – see definition of ECI above).
 
Anna Jansen
added an update
The David Lopatie Conference Centre
Weizmann Institite of Science
Israel
Poster attached
 
Anna Jansen
added an update
For detailed information on registration, accommodation and travel, please visit
To apply for the Course and Scholarship, please complete the form in attachment and send it to iva.simunic@btravel.pro or register online.
 
Anna Jansen
added an update
Grants are available for Early Career Investigators(ECI)/PhD students from Inclusiveness Target Countries (ITC)* to attend scientific conferences.
Eligibility:
  • Any ECI/PhD student with a talk or poster that is relevant to the work of the Neuro-Mig Network. The talk/poster must be accepted for a conference taking place before 30 April 2018. You can make an application now (during the current Grant Period).
  • Any ECI/PhD student who would like to submit an application for a talk/poster that is relevant to the work of the Neuro-Mig Network for a conference taking place between 1 May 2018 and 30 April 2019 is encouraged to do so. These conference grant applications should be submitted from mid-January 2018
For information about the ITC conference grants and how to apply please consult: http://www.cost.eu/ITC_conferencegrants_userguide . The application is on page 5
* The following countries are considered ITC: Bosnia-Herzegovina, Bulgaria, Cyprus, Czech Republic, Estonia, Croatia, Hungary, Lithuania, Latvia, Luxembourg, Malta, Montenegro, Poland, Portugal, Romania, Slovenia, Slovakia, the former Yugoslav Republic of Macedonia, Republic of Serbia and Turkey.
 
Anna Jansen
added an update
Dear researchers, COST Action CA16118 European Network on Brain Malformations invites Researchers from Participating COST Countries to submit applications for the 1st call for Short-Term Scientific Missions (STSM) Applications for missions occurring between December 2nd 2017 and April 30th 2018. Purpose of a STSM STSM are aimed at strengthening existing networks and fostering collaborations by allowing Researchers participating in a given COST Action to visit an institution / organisation in another Participating COST Country / an approved NNC institution or an approved IPC institution. A STSM should specifically contribute to the scientific objectives of the COST Action, whilst at the same time allowing those partaking in the missions to learn new techniques, gain access to specific data, instruments and / or methods not available in their own institutions / organisations. Please see the full call for STSM applications in the document attached. Deadline for applications to be submitted: November 15th 2017 Notification of application outcome: December 1st 2017 Period of STSM: between December 2nd 2017 - April 30th 2018 All STSM activities must occur in their entirety within the period specified above. Contact person: STSM Coordinator Christina Hoei-Hansen MD, DMSc chh@dadlnet.dk www.cost.eu/COST_Actions/ca/CA16118 For COST STSM funding rules – see COST vademecum
 
Anna Jansen
added an update
Instructions for submission:
The submission website for this journal is located at: http://www.evise.com/evise/faces/pages/navigation/NavController.jspx?JRNL_ACR=EJMG
To ensure that all manuscripts are correctly identified for inclusion into the special issue, it is important that authors select the name of the special issue when they upload their manuscripts:
[SI: Malform of Brain Cortex]
 
Anna Jansen
added an update
Dear researchers,
COST Action CA16118 European Network on Brain Malformations invites Researchers from Participating COST Countries to submit applications for the 1st call for Short-Term Scientific Missions (STSM) Applications for missions occurring between December 2nd 2017 and April 30th 2018.
Purpose of a STSM
STSM are aimed at strengthening existing networks and fostering collaborations by allowing Researchers participating in a given COST Action to visit an institution / organisation in another Participating COST Country / an approved NNC institution or an approved IPC institution. A STSM should specifically contribute to the scientific objectives of the COST Action, whilst at the same time allowing those partaking in the missions to learn new techniques, gain access to specific data, instruments and / or methods not available in their own institutions / organisations.
Please see the full call for STSM applications in the document attached.
Deadline for applications to be submitted: November 1st 2017
Notification of application outcome: December 1st 2017
Period of STSM: between December 2nd 2017 - April 30th 2018
All STSM activities must occur in their entirety within the period specified above.
Contact person:
STSM Coordinator Christina Hoei-Hansen MD, DMSc
For COST STSM funding rules – see COST vademecum
 
Anna Jansen
added an update
I have an open position for a bioinformatician in my lab in Rotterdam, for a project focusing on the role of non-coding DNA in neurodevelopment and disease, see attached.
 
Anna Jansen
added an update
Instructions for submission:
The submission website for this journal is located at: http://www.evise.com/evise/faces/pages/navigation/NavController.jspx?JRNL_ACR=EJMG<http://www.evise.com/evise/faces/pages/navigation/NavController.jspx?JRNL_ACR=EJMG> To ensure that all manuscripts are correctly identified for inclusion into the special issue you are editing, it is important that authors select the name of the special issue when they upload their manuscripts: [SI: Malform of Brain Cortex]
 
Fiona Francis
added 2 research items
Epilepsy and mental retardation, originally of unknown cause, are now known to result from many defects including cortical malformations, neuronal circuitry disorders and perturbations of neuronal communication and synapse function. Genetic approaches in combination with MRI and related imaging techniques continually allow a re-evaluation and better classification of these disorders. Here we review our current understanding of some of the primary defects involved, with insight from recent molecular biology advances, the study of mouse models and the results of neuropathology analyses. Through these studies the molecular determinants involved in the control of neuron number, neuronal migration, generation of cortical laminations and convolutions, integrity of the basement membrane at the pial surface, and the establishment of neuronal circuitry are being elucidated. We have attempted to integrate these results with the available data concerning, in particular, human brain development, and to emphasize the limitations in some cases of extrapolating from rodent models. Taking such species differences into account is clearly critical for understanding the pathophysiological mechanisms associated with these disorders.
Anna Jansen
added an update
Preliminary Program:
09 APRIL 2018: Neuro-embryology & Neuroradiology (the antenatal period)
10 APRIL 2018: Clinical follow-up & Molecular Genetics (the postnatal period)
11 APRIL 2018: Translational Genetics
Applicants will be requested to bring 1 case with a known diagnosis as well as 1 case of unknown etiology for presentation and discussion.
The Training School welcomes neuroradiologists, neurologists, geneticists, pathologists and basic scientists active in the field of MCD.
Preference will be given to the network's Early Career Investigators (ECIs) and members of Inclusiveness Target Countries (ITCs), but the Training School will also be open to external participants.
Application will require a Letter of Intent (Template will be available at www.neuro-MIG.org) and a Letter of Support from the applicant's Institute.
All applications will be evaluated by the Neuro-MIG Management Committee in collaboration with the Training School organizers - 30 applicants will be selected.
Any updates as well as the final program will be posted on the Neuro-MIG website (www.neuro-MIG.org) which will be up soon!
 
Anna Jansen
added an update
Project goal
This COST Action will, for the first time, bring together clinicians and researchers in the field of brain malformations, to create the interdisciplinary, pan-European Network Neuro-MIG, advancing the understanding of MCD pathophysiology and translating this knowledge to improve the diagnostic and clinical management of the patients. This Action will harmonise MCD classification, based on the advances in genetics and neuroimaging, develop guidelines for clinical management, create best practice diagnostic pathways, coordinate databases from different countries to utilize them for collective research initiatives aimed at developing appropriate therapies, identify common pathophysiological mechanisms through collaborations, educate young clinicians and scientists, and stimulate translational and transnational exchange. This Action will join forces of MCD experts to reduce health care costs and increase the quality of life of the affected individuals and their families.
Background and motivation
 
Anna Jansen
added a project goal
This COST Action will, for the first time, bring together clinicians and researchers in the field of brain malformations, to create the interdisciplinary, pan-European Network Neuro-MIG, advancing the understanding of MCD pathophysiology and translating this knowledge to improve the diagnostic and clinical management of the patients. This Action will harmonise MCD classification, based on the advances in genetics and neuroimaging, develop guidelines for clinical management, create best practice diagnostic pathways, coordinate databases from different countries to utilize them for collective research initiatives aimed at developing appropriate therapies, identify common pathophysiological mechanisms through collaborations, educate young clinicians and scientists, and stimulate translational and transnational exchange. This Action will join forces of MCD experts to reduce health care costs and increase the quality of life of the affected individuals and their families.