The Boztug lab at CeMM is searching for a Medical Geneticist or Next Generation Sequencing Bioinformatician to optimize data processing of high-throughput genomic data arising from various sequencing applications including exome, genome and transcriptome sequencing data, with the overall goal to fuel research on hitherto unknown monogenic human diseases.
We are looking for a highly motivated candidate (bioinformatics or biomedical science background) with a strong interest in contributing to the genomics revolution of biomedicine and with an interest in research on rare and undiagnosed Mendelian diseases. The candidate would be part of the Boztug research group but closely interact with technologists and bioinformaticians from the BSF. He/she is expected to be able to set up and maintain data processing pipelines for a variety of next-generation sequencing applications, with a focus on DNA sequencing, in particular, identification of single-nucleotide variants and small chromosomal mutations leading to the aberrant gene function. Wet-lab experience would be a plus but not a prerequisite. In addition, the role of the candidate will be to develop novel custom-designed algorithms for analysis of phenotype-based patient cohorts to identify underlying mutations and pathways. Excellent communication skills will enable intensive exchange with both wet lab scientists and other bioinformaticians at CeMM. Any previous experience with clinical patient data and/or biobanking would be appreciated. Given that CeMM works in highly competitive areas at the forefront of biomedical research, intellectual curiosity, flexibility and dedication to science will be key success factors.
Please submit: cover letter, curriculum vitae, academic transcripts and contact details of at least two referees to firstname.lastname@example.org. Please refer to "Boztug lab Medical Geneticist/Bioinformatician" in the subject line.
Application deadline: 31 March 2014.
The Principal Investigator:
Dr. Boztug has a first-class training and an impressive academic record decorated with honors and prizes, including a Merit Award from the American Society of Hematology and the Eva Luise and Horst Köhler Prize for Research in Rare Diseases. Dr. Boztug has a joint appointment as an Assistant Professor at the Department of Paediatrics and Adolescent Medicine at the Medical University of Vienna, Europe’s largest University Hospital. He has recently been awarded the prestigious START Prize of the Austrian Science Fund, the highest and most well-funded research prize for young researchers in Austria, as well as a Starting Grant of the European Research Council (ERC), which will enable well-funded research at a world-class level in his laboratory at CeMM. Kaan Boztug is also the director of the newly established Vienna Center for Rare and Undiagnosed Diseases, a joint venture between the Medical University of Vienna and CeMM (cerud.meduniwien.ac.at). Dr. Boztug maintains fruitful collaborations with a number of leading scientists in the field as well as with clinical institutions worldwide, thereby extending scientific expertise and access to the informative pedigrees.
The Research Interests:
The main research interest of the Boztug Lab is molecular understanding of Mendelian disorders including inherited defects of the immune system (so-termed primary immunodeficiency disorders, see Boztug K et al NEJM 2009; Glocker EO*, Kotlarz D*, Boztug K* et al NEJM 2009; Boztug K et al NEJM 2010; Salzer E et al Blood 2013; Salzer E et al JACI in press). The group has accumulated a large collection of informative pedigrees and is performing state-of-the-art genomic analyses combined with functional assays to identify and validate novel disease-causing mutations. The genomic research comprises high throughput genetics/genomics such as high-resolution SNP arrays and deep sequencing as well as functional proteomics of protein complexes. Candidate genes are then studied in detail using an array of biochemical, immunological and imaging technologies to obtain molecular gene-to-phenotype relationships.
is a fully equipped molecular biology laboratory in a shared environment with cell culture and multi-color flow cytometry on the same floor within a brand new building. All equipment needed for state-of-the-art genomic investigations such as SNP arrays and deep sequencing are immediately accessible on the same floor of the building and operated in close collaboration with the Biomedical Sequencing Facility of CeMM and the Medical University of Vienna (see below). The group is embedded in a multidisciplinary and highly collaborative systems biology/molecular medicine research environment providing access to state-of-the-art mass-spectrometry, bioinformatics, automated chemical biological screening platform and animal facilities, including BSL2 suites.
The Biomedical Sequencing Facility: [http://biomedical-sequencing.at/]
CeMM and the Medical University of Vienna (MUV) recently joined forces and launched the Biomedical Sequencing Facility (BSF), which is coordinated by CeMM Principal Investigator Christoph Bock. The goals of the BSF are to foster biomedical research and to catalyze the development of genomic medicine in Vienna and Austria. The BSF is currently equipped with two Illumina HiSeq 2000 sequencers and with a 96-well robotics pipeline for automated library preparation. The BSF is also supported by a powerful scientific computing cluster. Genomics protocols that are routinely run by the BSF include: whole-genome sequencing, exome sequencing, epigenome mapping by ChIP-seq and whole-genome bisulfite sequencing, and transcriptome mapping by various forms of RNA-seq. Furthermore, the BSF collaborates with clinical labs at the MUV toward establishing personal genome sequencing as part of clinical diagnostics. Sequencing throughput is steeply increasing as the BSF scales up personal genome sequencing, and significant extensions are planned over the coming years.
Associated Labs at CeMM:
• The Medical Epigenomics lab is headed by Dr. Christoph Bock and studies the contribution of epigenetic defects to cancer, utilizing both experimental and computational methods
(http://medical-epigenomics.org/ and http://www.cemm.oeaw.ac.at/?id=235).
• The Cancer Genomics lab is headed by Dr. Robert Kralovics, investigating the genomic basis of chronic and acute hematological malignancies (http://www.cemm.oeaw.ac.at/index.php?id=33).
• In addition to these labs (which are physically co-located with the BSF), the Boztug lab maintains a broad network of collaborators across Vienna’s medical campus as well as nationally and internationally.
For more information please visit our website: www.cemm.at