Phd Vacancy to Develop Antisense-based Therapeutic Strategies for Inherited Metabolic Diseases
2 weken geleden
4 years **_About 1 in every 800 newborns is born with an inherited metabolic disease (IMD). These diseases are a major cause of death in children worldwide and are caused by genetic defects in over 1,500 known metabolic enzymes. Unfortunately, despite progress in early screening, biomarker discovery, diagnosis, and treatment, most IMDs (85%) are still not treatable. Dietary adjustments are the most common treatment but can be difficult to manage and are not always effective. Other treatments are being explored but are still very limited, often only working for a few specific types of IMDs, and in some cases, the mechanisms of action are not fully understood. Therefore, there is a strong need for new strategies. Will you help us?_**
In the project, called REA-IMD, we aim to develop novel therapeutic approaches using an emerging technology based on antisense oligonucleotides (AONs). These AONs are small molecules that can modify various processes in our cells. For example, IMDs are hereditary and result from DNA defects, leading to the absence of essential proteins or the production of harmful ones. This can cause the accumulation of toxic metabolites or a deficiency of vital metabolites. Within this project, AONs will be used to target mRNA transcripts to restore the balance within the metabolic pathways to develop potential treatments for IMDs.
This work will be conducted in close collaboration with the Erasmus MC and is funded by Metakids as part of the call "Focus op Therapie" in 2024. The anticipated starting date is 1 March 2025.
**Tasks and responsibilities**
- Plan and perform scientific experiments in an independent manner.
- Critically analyze data.
- Report results.
- Take a leading role in writing manuscripts.
- Present data at local, national and international scientific meetings.
- Supervise MSc and/or BSc students.
- Active participation in group discussions.
At Radboud university medical center, you build on your future. We are committed to providing the best care, education, and research. And we are true to our word, because we help you develop and seize opportunities and give you the room to grow. As an employer, we believe that employees should feel vital and happy at work in all stages of life. We are also committed to creating a healthy and safe working environment. Our employment conditions contribute to that. What we offer:
- Upon commencement of employment, you will start at scale 10A, step 0 (€ 3.017 based on a full-time appointment). Over a maximum period of 4 years, you will progress to scale 10A, step 3 (€3.824 based on a full-time appointment). You will also receive an 8% holiday allowance, an 8.3% end-of-year bonus, and a 47% to 72% bonus for working unsocial hours.
- 176 vacation hours per year based on a 36-hour working week.
You will be positioned within the Molecular Therapies for Neurometabolic and Retinal Diseases group led by Dr. Alex Garanto. Within the group, we aim to develop models and therapeutic interventions for inherited metabolic and eye diseases. You will be co-supervised by Dr. Atze Bergsma from the Department of Pediatrics and the Center for lysosomal and metabolic diseases, at the Erasmus MC (Rotterdam), whose research focuses on developing therapies for glycogen storage disorders. During the PhD trajectory, you may also perform some experimental work at the Erasmus MC.
There will be close collaboration with the group of Glycosylation disorders in neurology led by Prof. Dirk Lefeber and with the group of Prof. Rob Collin "Molecular Therapies for Inherited Eye Diseases" both at the Radboudumc, as well as with the group Prof. Pim Pijnappel at the Erasmus MC. There will be also collaborations with the Translational Metabolic Laboratory at the Department of Human Genetics.
You will be affiliated with the Department of Pediatrics, and will conduct the experimental work mainly in the Department of Human Genetics of the Radboudumc in Nijmegen, with possible visits to Erasmus MC during the PhD trajectory.
Radboudumc is internationally renowned for its research and diagnostics on a variety of genetic disorders and the impact of personalized medicine. Both Departments offer an exciting working environment with enthusiastic people from many parts of the world, providing ample critical mass and a stimulating, collaborative atmosphere for high quality research.
**Radboudumc**
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