+39 0935 936374 - 301

Meeting History

Meeting history
From the Past to the Future

The current Troina Meeting on Genetics of Neurodevelopmental Disorders started on April 8 and 9, 2005 as the First International Meeting on Cryptic Chromosomal Rearrangements in Mental Retardation and Autism.

It was the time when karyotype started to show its weaknesses in unraverlling ever more smaller anomalies.
Subtelomeric MultiFISH appeared as a new technique with promising results.The known and new subtelomeric syndromes were presented by expert authors at this first meeting.

Genomic duplications and CNVs widened the landscape at the Second Meeting, on April 7 and 8, 2006.
Starting from a session on genomic architecture, the meeting went through BAc, Oligonucleotide and SNP arrays, recurrent and non recurrent CNVs, new phenotypes and syndromes, and the applications in clinical genetics. From the HapMap showing how CNVs may be the skeleton of normal variation in the humans, but also the cornerstone for new diseases, the 3rd Meeting took place on April 12 and 13, 2007.
It was elucidated the role of custom-made array CGH in targeting recurrent CNVs, which imply that a deletion is usually accompanied by a reciprocal duplication. In that way, the well known Williams syndrome, due to Non Allelic Homologous Recombination at 7q11.23 was presented having its reciprocal duplication. New phenotypes, such as the 17q21.31 microdeletion syndrome, were there focused. Autism was covered as a complex condition with some scattered CNVs increasing the disease risk.

The copy number variation in the mouse was the starting presentation of the 4th Meeting, on April 7 and 8, 2008, which went through a refinement of the targeted duplication-based array CGH approach and a comparison between SNP, Oligonucleotide and MLPA array. The autism received an update on relevant CNVs data, and a roundtable on the use of array CGH in several Health Services across Europe foreran the last session, which highlighted the new conditions, the use of new knowledge in the clinical setting, and the 3D scan for facial dysmorphology.

Relevant mouse models, population genetics, imprinted CNVs and the right carrier testing filled out the introducing session of the 5th Meeting on April 17 and 18, 2009. The usual update on CNVs and autism was pursued in the respective session. A most-wanted roundtable on the use of array CGH in prenatal diagnosis saw invited speakers and the audience share their experience in USA and Europe. The last session on phenotypes focused on the new syndromes, and new aspects of an old syndrome, the Williams syndrome.

The 6th Meeting, on April 23 and 24, 2010, started from the use of a CNVs Atlas for identification of autism genes, following up on the added value of genotyping in SNP array analysis. An entire session was devoted to the breakpoints mapping in CNvs analysis and the functional genomics shedding more light on the implications of CNVs. The last session on phenotypes highlighted the data on CNVs and epilepsy, the defects in long-range gene regulation, and some new results on CNTNAP2, NRXN1, and 16p11.2 deletion.

The 7th meeting, on April 13 and 14, 2012, definitely abandoned the old term of Cryptic Chromosomal Rearrangements, shfting to CNVs and Genes. The first session was on the use of Next Generation Sequencing in X-linked, Recessive and Dominant Intellectual Disability. The second session covered the topic of therapy in intellectual disability, ranging from drosophila models for intellectual disability to mouse models and clinical trials in humans for fragile X syndrome and rasopathies. The use of whole-exome sequencing updated the results of research in the genetics of autism.

The 8th meeting on April 12 and 13, 2013, had two keynote lectures from two outstanding speakers, Evan Eichler on Autism and Intellectual Disability: from CNVs to Genes, and Jean-Louis Mandel, on the impact of genetics of autism and intellectual disability in the care of patients. Opened and closed by such keynote lectures, nine invited talks implied CNVs gains in the X chromosome, inversions polymorphisms and disease predisposition, next-generation sequencing in intellectual disability, genes in epilepsy, 16p11.2 locus, recessive contribution to autism, loss of delta catenin function in autism, gender bias in neuro-developmental disorders, GABAergic drugs in Fragile X syndrome.

The 9th meeting, on April 4 and 5, 2014, confirmed two keynote lectures from two outstanding speakers, Jozef Gecz on the role of mRNA in Intellectual Disability and Autism, and Evan Eichler on understanding the genetic basis of Autism and Intellectual Disability. Opened and closed by such keynote lectures, eight invited talks implied XLID genes and networks, mate pair sequencing, spatial organization of the 16p11.2 locus, neuroimaging and cognitive correlates in 16p patients, modelling 16p11 and 17q21.31 copy number variants affecting intellectual disabilities in the mouse, FRA2A and AFF3, small CNVs in neurodevelopmental disorders, genome sequencing and severe intellectual disability.

The 10th Meeting, on April 16-18, 2015, has been a sort of jubilee, and for the first time lasted three days. Four sessions (Animal Models and Functional Genomics, Intellectual Disability, Epilepsy, and Autism Spectrum Disorders) outlined the meeting. Fifteen invited speakers presented on specific topics such as prenatal treatments for trisomy 21 in mice, modelling ID/ASD disorders in rats, IPSC-modeling of 7q11.23 CNV-syndromes, Koolen-De Vries syndrome, reciprocal rearrangements and phenotypes at 7q11.23,in utero treatment for PQBP-1 gene mutations, PCDH19, malformations of cortical development, epileptic encephalopathy, networks of genes, and synaptic, transcriptional and chromatin genes disrupted in autism.

The 11th Troina Meeting on Genetics of NeuroDevelopmental Disorders, held on April 21-23, 2016, changed its name from the previous ones, taking in account the pleiotropic phenotype of involved CNVs and Genes. Five sessions, with 15 invited speakesrs, focused on Animal Models and Functional Genomics, X-linked Intellectual Disability, CNVs amd Genes, Epilepsy, Autism Spectrum Disorders.

The 12th Troina Meeting on Genetics of Neurodevelopmental Disorders, held on April 27-29, 2017, included Five Sessions with 16 Invited Speakers and Two Sessions of Short Communications with 5 Selected Speakers. It focused on Phenotyping, Functional Genomics and Animal Models, Autism Spectrum Disorders, Epilepsy and Other Neurodevelopmental Disorders

The 13th Troina Meeting on Genetics of Neurodevelopmental Disorders, held on April 12th-14th, 2018, included Six Sessions with 15 Invited Speakers on topics such as Facial Phenotyping, iNeurons, Large Studies on Genetics of Neurodevelopmental Disorders, Epilepsy, From Structural Impairment to Genetics, and From Genetics to Epigenetics.Furthermore, Four Sessions of Short Communications were organized with 18 Speakers selected from the abstracts sent to the Scientific Committee.

Troina Meeting on Genetics of Neurodevelopmental Disorders