PhD candidate ‘long-read technologies to uncover causative structural variants leading to autosomal dominant retinitis pigmentosa’
4 years Inherited retinal diseases (iRDs) display an enormous degree of genetic heterogeneity. A genetic diagnosis is essential for prognosis, counseling and eligibility for novel gene-specific therapies. While advances in the last decennium in genomics technologies have identified many genetic causes of iRDs, still an estimated 40% of tested iRD-cases has not received a genetic diagnosis using routine whole exome sequencing. Moreover, whole genome sequencing has increased the knowledge on predicting the effect of non-coding variants, but this has not resulted in a major improvement in identifying elusive genetic causes of iRDs.
In this project, we focus on persons with genetically unsolved autosomal dominant retinitis pigmentosa (adRP) who have remained genetically unexplained using exome or genome sequencing. We will employ new technologies such as genome optical mapping and long-read WGS which have the potential to uncover underlying causative structural variants that may underlie disease. Next, peripheral blood cells will be reprogrammed into induced pluripotent stem cells, which can be differentiated into photoreceptor precursor cells. Next, the Hi-C technology will be employed to visualize the functional chromosomal landscape to unravel the mechanisms of diseases in these patients. Positive results in these studies may lead to therapeutic opportunities for affected individuals. Working at Radboud university medical center means that you are ahead of the curve and working together on the healthcare of the future. And there is more. Our secondary terms of employment are impressive. These are fully tailored to you thanks to our Employment Conditions Selection Model. At Radboud university medical center, you will be given trust, and you will take the responsibility to handle everything together. We provide annual courses, both professional and personal.
In addition to your monthly salary and an annual vacation allowance of 8%, you will receive an end-of-year bonus of 8.3%.
If you work irregular hours, you will receive an allowance.
As a full-time employee (36 hours per week), you are entitled to approximately 168 vacation hours (over 23 days) per year.
Radboud university medical center pays 70% of the pension premium. You pay the rest of the premium with your gross salary.
You get a discount on health insurance as well: you can take advantage of two group health insurance plans. UMC Zorgverzekering and CZ collectief.
In addition to our terms of employment, we also offer employees various other attractive facilities, such as childcare and sports facilities. Want to learn more? Take a look at the Cao UMC. The PhD student will be enrolled in the PhD program of the Donders Institute of Brain, Cognition and Behaviour, and will be a member of the Department of Human Genetics with an excellent, dynamic, challenging and international working environment in which interdisciplinary research is performed with basic, translational and applied aspects.
At the moment there are more than 1,300 PhD candidates at our medical hospital. This number includes PhD candidates on our pay roll as well as external candidates (those employed somewhere else but researching on our premises).
Radboud Institute for Health Sciences: ± 700
Radboud Institute for Molecular Life Sciences: ± 400
Donders Center for Medical Neurosciences: ± 200
Read what it is like to do a PhD at the Radboud University Medical Center.
Radboud university medical center is a university medical center for patient care, scientific research, and education in Nijmegen. Radboud university medical center strives to be at the forefront of shaping the healthcare of the future. We do this in a person-centered and innovative way, and in close collaboration with our network. We want to have a significant impact on healthcare. We want to improve with each passing day, continuously working towards better healthcare, research, and education. And gaining a better understanding of how diseases arise and how we can prevent, treat, and cure them, day in and day out. This way, every patient always receives the best healthcare, now and in the future. Because that is why we do what we do.
Read more about our strategy and what working at Radboud university medical center means. Our colleagues would be happy to tell you about it. #weareradboudumc The ideal candidate for this PhD student position has a master degree in Molecular Life Sciences or Biomedical Sciences. You are team-oriented and you have affinity with bioinformatics. Also you have affinity and expertise in cell culture. All additional information about the vacancy can be obtained from dr. Susanne Roosing or dr. Suzanne de Bruijn.Use the Apply button to submit your application.
Further information on the research of the supervisors is available at the website of dr. Susanne Roosing.