Speakers

 

Sonja Vernes

Max Planck Institute for Psycholinguistics

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Bat genomes can tell us about human speach development

Sonja Vernes is a Max Planck Research Group Leader at the Max Planck Institute for Psycholinguistics in The Netherlands. Sonja obtained her PhD in Neurogenetics from The University of Oxford, studying the neurogenetics of human language and the role of the FOXP2 transcription factor in language disorders.

She currently leads the Neurogenetics of Vocal Communication group, whose research interests focus on human language and the use of bats as a model for vocal communication that can inform the genetics, neurobiology, and evolution of this trait. The group studies the abilities of bats to learn novel vocalisations (vocal learning), which in humans, allows us learn the huge repertoire of sounds we use to communicate via spoken language. Recent work has demonstrated the feasibility of neurogenetic studies in bats, identified sites of action for key language-related genes in the brains of vocal learning bats, and their potential to contribute to our understanding of human speech and language. Sonja is a founding director of the Bat1k genome sequencing consortium (www.bat1k.com), an affiliated principal investigator at the Donders Institute for Brain, Cognition and Behaviour,  and a FENS-Kavli Network of Excellence Scholar (fenskavlinetwork.org).

Relevant publications:

Devanna, P., Dediu, D., & Vernes, S. C. (2019). The Genetics of Language: From complex genes to complex communication. In S.-A. Rueschemeyer, & M. G. Gaskell (Eds.), The Oxford Handbook of Psycholinguistics (2nd ed., pp. 865-898). Oxford: Oxford University Press.

Teeling, E., Vernes, S. C., Davalos, L. M., Ray, D. A., Gilbert, M. T. P., Myers, E., & Bat1K Consortium (2018). Bat Biology, Genomes, and the Bat1K Project: To Generate Chromosome-Level Genomes for all Living Bat Species. Annual Review of Animal Biosciences, 6, 23-46. doi:10.1146/annurev-animal-022516-022811.

Pika, S., Wilkinson, R., Kendrick, K. H., & Vernes, S. C. (2018). Taking turns: Bridging the gap between human and animal communication. Proceedings of the Royal Society B: Biological Sciences, 285(1880): 20180598. doi:10.1098/rspb.2018.0598.

Alexander Hoischen

Radboudumc, Immuno-Genomics

Resolving structural variants with long read technologies

My research group works on identification of rare disease genes using latest genomics tools, focusing mainly on immune disorders. I established the latest technology for accurate and large scale targeted re-sequencing (smMIPs) in Nijmegen.

 

Recently we started to apply long-read sequencing and long-read mapping to unsolved rare disease cases; these methods were subsequently integrated into routine diagnostics.

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In the last years we have shown that applications of novel and disruptive technologies allows new scientific insights and rapid translation into clinical/diagnostic practice at unprecedented speed. As part of my role in rare disease genomics I co-lead a work package in the EU-funded H2020 project SOLVE-RD (www.solve-rd.eu). I was also awarded the full PI status at the Radboudumc from 2019 onwards.

Relevant publications:

 

Hoischen A, van Bon BW, Gilissen C. De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet. 2010 Jun;42(6):483-5.

 

Acuna-Hidalgo R […] Hoischen A, Zenker M. Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway. Am J Hum Genet. 2014 Sep 4;95(3):285-93.

 

Hoischen A, Krumm N, Eichler EE. Prioritization of neurodevelopmental disease genes by discovery of new mutations. Nat Neurosci. 2014 Jun;17(6):764-72.

Kerstin Howe

Sanger Institute

Improving and validating genome assemblies

Kerstin Howe is a computational biologist interested in the provision of accurate reference genome sequences and structures to support biological, agricultural and clinical science. She started working at the Sanger Institute in 2000 after gaining a PhD in genetics from Ruhr-Universitaet Bochum, Germany.

 

After 2 years working on the reference annotation for the human and C. elegans genomes, she formed her own team to analyse and improve genome assemblies. Her team initially focused on the zebrafish genome assembly, and subsequently expanded in scope to the human, mouse and chicken reference assemblies as a founding member of the Genome Reference Consortium in 2007. Kerstin and her team now lead the validation of the assemblies produced by the Vertebrate Genome Sequencing Project (since 2016), the Sanger 25genomes Project (2018) and the Sanger Darwin Tree of Life Project (since 2018).

Relevant publications:

 

Schneider VA, Graves-Lindsay T, Howe K, Bouk N, Chen HC et al. Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly. Genome research 2017;27;5;849-864

Chow W, Brugger K, Caccamo M, Sealy I, Torrance J and Howe K. gEVAL - a web-based browser for evaluating genome assemblies. Bioinformatics (Oxford, England) 2016;32;16;2508-10

Howe K, Clark MD, Torroja CF, Torrance J, Berthelot C et al. The zebrafish reference genome sequence and its relationship to the human genome. Nature 2013;496;7446;498-503

 
 
NGI Sweden / SciLifeLab

@2019 by NGI.

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