SCIENCE-JOBS-DE

PhD position Systematic modelling of Cerebellar Ataxias in Drosophila (Nijmegen, NL) (Nijmegen, the Netherlands)

Systematic Modeling of Autosomal Recessive Cerebellar Ataxias in Drosophila - novel avenues towards better understanding and future treatment

Autosomal recessive cerebellar ataxias (ARCAs) are a group of rare, devastating neurodegenerative disorders that share cerebellar dysfunction as their main hallmark. Patients experience loss of mobility and independence, and can suffer from reduced lifespan. More than 20 causative ARCA genes have been identified, but our knowledge about their function in health and disease is lagging behind. Therapies for ARCAs are not available and despite forefront genetic technology, at present only the minority of patients receive a genetic diagnosis; establishing novel ARCA genes is still limited by the challenging interpretation of exome sequencing results. This PhD project aims to overcome a number of current bottlenecks. Using the power of Drosophila as a model, you will characterize the  function of known ARCA genes in various disease-relevant (neuro)morphological and behavioural assays. Combining the strength of Drosophila, neurophenotyping pipelines and unprecedented fly phenotype!
  datasets on >350 clinically overlapping disorders that are established in the host lab, you will dissect evolutionarily conserved molecular networks that orchestrate motor control and systematically improve our knowledge on ARCA pathobiology. Customized Drosophila  experiments and the gained insights will be further used to guide clinical decision-making and validate novel candidate genes.
We expect this project to provide conceptual insights into the molecular architecture of movement and clinically overlapping cognitive disorders and generate translational opportunities in diagnostics and future drug development, with high impact for science and patient care.

Host department and group
The Human Genetics Department Nijmegen is a world-leading place for research into genetic forms of cognitive and other neuronal disorders, where clinical research, disease gene identification and functional studies work hand in hand. Using disease genes as a starting point, the group of Annette Schenck dissects gene function, molecular networks and mechanisms that underlie brain development and cognition, and aims to translate this knowledge back to humans.

Further information
This PhD project will be carried out in close collaboration with the group of Dr. Bart Van de Warrenburg, who is specialized in the genetics and system-level mechanisms of cerebellar ataxias and other movement disorders, speaker of the European ataxia study group (www.ataxia-study-group.net) and chairman of the task force on Ataxias for the European Academy of Neurology.

Requirements
•       A MSc in a domain of Molecular Life Sciences
•       Background in molecular, neuro- and cell biology
•       Experience with a model organism is a plus
•       High affinity for fundamental research related to human disorders of the nervous system
•       Highly motivated, with excellent interpersonal and communication skills and with the strong wish to work interdisciplinary

Terms of employment
•       Dutch salary scale 10A, full PhD position
•       Employment will initially be for one year, and will be extended with an additional 3 years after a positive evaluation
•       The employment for this position ideally starts in September/October 2015

Selected Publications of the host group:
(1) van der Voet M et al. Neurosci Biobehav Rev, 2014, 46P2:326-342. (2) Gilissen C et al. Nature, 2014, 511(7509):344-7. (3) Oortveld MAV et al. PLoS Genetics, 2013, 9(10):e1003911. (4) Gupta VK et al. Nature Neuroscience, 2013, 16(10):1453-60. (5) van Bon BWM et al. Hum Mol Genet, 2013, 22(15):3138-51. (6) Kleefstra T et al. Am J Human Genetics, 2012, 91(1):73-82. (7) Koolen DA et al., Nature Genetics, 2012, 44(6):639-41. (8) Kramer et al. PLoS Biol, 2011, 9(1):e1000569.

For further information please visit:
https://www.radboudumc.nl/Research/Organisationofresearch/Departments/HumanGenetics/Pages/Drosophila_models_of_Brain_Disorders_home.aspx

Closing date
February 22nd, 2015

Application
Please send your application to Dr. Annette Schenck, Annette.Schenck@radboudumc.nl. The following application documents are required: 1. A letter of motivation,  2. your CV and 3. two letters of recommendation, combined in a single pdf file. Incomplete applications (e.g. without letters of recommendation) will not be considered!


Annette Schenck, PhD, Associate Prof.
Annette.Schenck@radboudumc.nl
Department of Human Genetics Nijmegen, Donders Institute for Brain, Cognition and Behaviour & Radboud University Medical Center
Nijmegen, the Netherlands