The 4th Vienna Next Generation Sequencing Symposium & Workshop brought together over 150 current and future users of next generation sequencing technology. Six invited speakers described exciting applications of NGS technology in basic biology and in biomedical research. And the keynote speaker Bart Deplancke (École Polytechnique Fédérale de Lausanne, EPFL) presented a biologically interesting and methodologically advanced study on the massive-scale characterization of the genome regulatory code in Drosophila. The meeting was organized by Christoph Bock (Coordinator of the BSF Biomedical Sequencing Facility of CeMM and MedUni Vienna) and Andreas Sommer (Coordinator of the CSF NGS unit at the Vienna Biocenter), who also gave an overview of the technological support and opportunities for collaboration that are available to researchers in Vienna, Austria and beyond. The symposium was followed by an interactive workshop that allowed all participants to go into further detail and to discuss practical approaches and challenges of using NGS technology in their research. The success story of the Vienna NGS Symposium & Workshop will continue with 5th event in winter 2015/2016.
Giulio Superti-Furga, Scientific Director and Kilian Huber, Senior Postdoctoral Fellow at CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, have been selected as winners of GlaxoSmithKline plc’s (GSK) 2014 European Discovery Fast Track Challenge, which is designed to accelerate the translation of academic research into novel therapies. CeMM will partner with scientists in GSK’s Discovery Partnerships with Academia (DPAc) and Molecular Discovery Research (MDR) teams to screen the target against GSK’s compound collection. Active compounds could then form the basis of full drug discovery programmes that may ultimately lead to innovative medicines for cancer.
The project is one of nine challenge winners, chosen from 232 entries across 24 European countries. Research between CeMM and GSK will focus on a new drug which prevents tumour growth by inhibiting the nucleotide pool sanitizing enzyme MTH1.
"We are very happy to see our studies carried on in the fast track programme together with GSK. It is really a rare stroke of luck that in our underlying studies we have not only found a previously unknown sore spot of aggressive cancers, but that by chance we simultaneously identified a chemical substance that is a mirror image of one of the best new anticancer agents in the clinic."
Launched in the U.K. in late 2010, DPAc is a new approach to drug discovery that enables academics to marry their scientific excellence with the drug discovery insight of GSK. For projects that progress to full DPAc programmes, GSK and the academic partner share the risk and reward of innovation; GSK funds activities in the partner laboratories and provides in-kind resources to progress a programme from idea to candidate medicine. Currently GSK has ten active DPAc collaborations in ten disease areas, of which six are with academics based in European institutes.
CeMM Scientific Director Giulio Superti-Furga was recently elected member of the Academia Europaea – the Academy of Europe. The election followed a recommendation of the Academic Sections and a peer review by the Nominations Committee of the academy.
The Academia Europaea is a registered not-for-profit charity founded in 1988 as an international, nongovernmental association of eminent, individual scientists and scholars from across the continent of Europe who are experts and leaders in their own subject areas as recognized by their peers. Currently 3000 academy members span the full range of academic disciplines comprising the humanities, social, physical and life sciences as well as mathematics, engineering and medicine.
The appointment represents an honor recognizing Prof. Superti-Furga’s international scholarship and major achievements, including the elucidation of basic regulatory mechanisms of tyrosine kinases in human cancers, the discovery of fundamental organization principles of the proteome of higher organisms and the development of integrated approaches to understand the mechanism of action of drugs at the molecular level. CeMM congratulates him on this distinguished achievement.
Congenital immunodeficiencies comprise a group of disorders characterized by an abnormal immune system. The body’s ability to fight infections is impaired and infections can have life-threatening consequences for those affected. Analysis of patients with a disease characterized by an inherited lack of neutrophil granulocytes termed severe congenital neutropenia (SCN) may shed light on the delicate balance of factors controlling differentiation, maintenance, and decay of neutrophils. The team of CeMM Principal Investigator Kaan Boztug in collaboration with the group of Christoph Klein, Director of the Dr. Von Hauner Children’s Hospital Munich, identified mutations in the gene JAGN1 as a novel subtype of SCN in 14 patients bearing 9 distinct JAGN1 mutations. JAGN1 deficiency accounts for approximately 10% SCN for which the underlying genetic defect had previously been unknown. The researchers could show that JAGN1 mutations lead to aberrant function of the endoplasmic reticulum, defective protein glycosylation and increased neutrophil apoptosis. SCN patients are usually treated with the cytokine G-CSF, however for JAGN1-deficient patients the treatment response was unsatisfactory. In a second study IMBA Director Josef Penninger and his team generated Jagn1 knock-out mice and could show that GM-CSF, but not G-CSF, treatment rescues the defects of JAGN1-deficient neutrophils in mice.
Kaan Boztug, first author of one of the studies, identified the first patients with JAGN1 mutations: “The discovery of the JAGN1 deficiency illustrates that inborn errors of immunity can be caused by mutations in genes that were previously not even known to play a role in the immune system. It would be a wonderful result of this CeMM-IMBA-Munich collaboration if treatment with GM-CSF also works for human patients – this will now be assessed in further clinical studies. This is also a perfect example that not only new drugs lead to better therapies. An enhanced molecular understanding of diseases may enable targeted use of existing drugs and can thus fulfill the promise of patient-oriented medicine."
The findings of both studies have been published on August 17, 2014, in the journal Nature Genetics:
Boztug, K. et al. JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia. Nat Genet. (2014).
Wirnsberger, G. et al. Jagunal-homolog 1 is a critical regulator of neutrophil function in fungal host defense. Nat Genet. (2014).
Genetic requirement for drug action is important to study as it may reveal mechanism of drug resistance, particularly in cancer, as well as generate ideas for better, safer and more personalized drugs. The laboratory of CeMM Director Giulio Superti-Furga used a genetic screen with human haploid cells, based on the work of Thijn Brummelkamp and his team (NKI and CeMM Adjunct PI), to identify the genes affecting the action of a poorly understood cancer drug under clinical evaluation. Surprisingly, only one gene turned out to lead to resistance, the uncharacterized member of the solute carrier SLC35F2. Further studies showed that whether this cancer drug works or not is entirely dependent on the presence of this transporter. In fact, there is a strong correlation between the levels of expression of the transporter and sensitivity to the drug. If the door is open, the drug will go through and kill the cell.
The findings have been published advanced online in the journal Nature Chemical Biology: The solute carrier SLC35F2 enables YM155-mediated DNA damage toxicity. Georg E Winter, Branka Radic, Cristina Mayor-Ruiz, Vincent A Blomen, Claudia Trefzer, Richard K Kandasamy, Kilian V M Huber, Manuela Gridling, Doris Chen, Thorsten Klampfl, Robert Kralovics, Stefan Kubicek, Oscar Fernandez-Capetillo, Thijn R Brummelkamp, Giulio Superti-Furga. Nature Chemical Biology. doi:10.1038/nchembio.1590.
SLC are the neglected gates that regulate access to biological systems to chemistry, or of organisms to the environment. CeMM is dedicated to mount a large interdisciplinary effort involving several laboratories to try to crack the “code” of the transport and regulation specificity. This will take several years but will allow to have better targeted drugs, that are safer because they know where they go, and to understand the relationship between drugs and nutrition.
On Friday, July 25, the new research report was presented to a selected audience on the CeMM terrace.
The concept of the current report is a wonderful example of our dialogue with society. Our befriended artist, Dorothee Golz, approached us with the idea of having a geneticist collaborate with her to unravel the traits in a particular branch of the body of her oeuvre that allows for a proper “genealogy”. What ensued is presented in this report and represents what we believe may be a first-ever formal quantitative representation of the relationship among the works of an artist. The concept can be expanded to describe also other artistic and scientific output.
To request a hardcopy please send a message to office(at)cemm.oeaw.ac(dot)at
We are looking for MD and/or PhD scientists either at their first independent appointment or already at the consolidation stage to apply their expertise close to a clinical setting in a stimulating research environment.
Are you full of ideas and impatient for action to translate the opportunities of the genomic age into better therapeutics and diagnostics? Do you have a truly collaborative mindset and enjoy teamwork across disciplines? Do you have an inclusive and open personality that cherishes being a scientist within a broader cultural and social context?
CeMM, the Research Center for Molecular Medicine of the Austrian Academy of Sciences, is one of the best places you should consider to advance your basic, medical-oriented research.
With great pleasure we announce that Denise Barlow, Principal Investigator at CeMM and Honorary Professor of Genetics at the University of Vienna, has received the Erwin Schrödinger Prize 2014 for lifetime achievements. The Erwin Schrödinger Prize is an annual award presented by the Austrian Academy of Sciences for lifetime achievement in the fields of mathematics and natural sciences. This prize is the most prestigious award of the Austrian Academy of Sciences and was established in 1958.
This recognition is very well-deserved. Denise Barlow's contributions to the field of mammalian genetics as well as to Austrian research are exceptional. She is a world-leading expert in epigenetic mechanisms operating in development and disease. We congratulate Denise!
In 1991, the Barlow group discovered the first mammalian imprinted gene (Igf2r) and since then, has uncovered many details of the imprinting mechanism and promoted its use as an epigenetic gene-regulatory model. Her laboratory has shown that an unusual and very long non-coding RNA (lncRNA), a macro ncRNA, induces imprinted gene expression. More recently, her laboratory has also shown that transcription, independent of the lncRNA product, is the mechanisms that silences the Igf2r gene. The focus of her work currently is to understand the epigenetic processes by which these unusual macro-ncRNAs induce gene silencing in imprinted clusters and in the wider mouse and human genomes.
July 06 - 08, 2014 More than 40 speakers, session chairs and special guests together with guests representing the Austrian molecular biology and life sciences community celebrated the 50th and 40th anniversaries of the European Molecular Biology Organization (EMBO) and the European Molecular Biology Laboratory (EMBL) and their impact in Austria, with a dedicated event. EMBanniversary AUSTRIA, a unique fusion of a scientific conference, alumni reunion, party as well as science & society and political stakeholder event, started with a Sunday evening Welcome Bash on the terrace of the CeMM – Research Center for Molecular Medicine on July 6, followed by a two-day conference in the beautiful Jesuitensaal of the Aula der Wissenschaften in Vienna’s 1st district.
The conference included 7 scientific sessions, thematically named after eminent Austrian scientists such as Gödel, Landsteiner, Perutz or Mendel, with speakers and session chairs that have direct links to EMBO and EMBL, either through past employment, prizes or fellowships and that furthermore also have a direct link to Austria. EMBL Director General Iain Mattaj delivered the Wittgenstein Lecture entitled “Looking into the future of molecular biology through the EMBL lens”. A second special lecture, the Freud Lecture, was delivered by the IMP’s former director Kim Nasmyth of the University of Oxford.
Giulio Superti-Furga, Chair of the Board of the EMBL Alumni Association, on behalf of the association’s Austrian Chapter, presented the association’s Austrian Chapter Achievement Award Medal to Max L. Birnstiel, former director of the Institute of Molecular Pathology, and Denise P. Barlow, Principal Investigator at CeMM in recognition of a life-time of outstanding research in molecular biology and for their contributions to the EMBO and EMBL community in Austria.
The award ceremony was followed by a lively round table panel discussion on “How to Promote Molecular Biology?” chaired by Giulio Superti-Furga. The panelists Maria Leptin (EMBO Director), Hemma Bauer (Austrian Ministry of Science, Research and Economy) and Renée Schröder (Max F. Perutz Laboratories, Vienna) inspired, challenged and engaged the audience in a vibrant debate about the role, impact and future of molecular biology and the significant role of life sciences research in Austria.
EMBanniversary AUSTRIA was rounded up by a wine and cheese reception that provided additional opportunity for video interviews, networking and reminiscence. Many guests expressed their excitement with respect to the opportunity to meeting old friends and hearing cutting-edge science from Austrians involved in the diverse areas of the life sciences field. We thank all speakers and participants for their contribution to a successful and enjoyable event.
We gratefully acknowledge the following sponsors for providing additional support for EMBanniversary AUSTRIA: EMBL Alumni Association, EMBLEM Technology Transfer GmbH, Austrian Federal Ministry of Science, Research and Economy, Research Institute of Molecular Pathology, Austrian Academy of Sciences, Boehringer Ingelheim RCV GmbH & Co KG, Haplogen GmbH, Starlab GmbH, Max F. Perutz Laboratories, Sigma-Aldrich Handels GmbH and Biozym.
Happy birthday EMBO! Happy birthday EMBL!
The Austrian Academy of Sciences (ÖAW) has announced their newly elected members. Among them are two Principal Investigators of CeMM. We congratulate Sylvia Knapp for being elected as Corresponding Member and Sebastian Nijman for having been named as member of the Chapter of Young Scientists (“Junge Kurie”). Giulio Superti-Furga, Scientific Director of CeMM: “We are very proud of the scientific excellence of the two group leaders. This recognition by the Austrian Academy of Sciences is very well-deserved.”