Vacancy PhD vacancy to develop antisense-based therapeutic strategies for inherited metabolic diseases

Job description

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.

Place of work

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
Welcome to Radboud university medical center (Radboudumc), where scientific breakthroughs are born through the curiosity and passion of our collaborating researchers in a vibrant environment. We believe trust and excitement are crucial elements to achieving our goals, and we approach our research as teams and with the utmost rigor to make a significant impact on health and healthcare. Our researchers are driven by their fascination with the biological, psychological, and sociological mechanisms underlying health and healthcare. They collaborate with partners from all over the world to improve health outcomes for all. Radboudumc unites patient care, research, education, and corporate learning, which allows us to approach our mission to shape the health and healthcare of the future in an innovative and person-centered way.

Our ambition is to lead the way in the pursuit of prevention, sustainability, meaningful care. We believe that through our research, we can significantly improve the health and well-being of society. Join us on our mission to make a difference in healthcare. Become a part of our community of gifted researchers, professionals or patient partners who are dedicated to making a real impact on population health and healthcare. 

Read what it is like to do a PhD at the Radboud University Medical Center.

Profile

Our ideal PhD candidate has completed a MSc degree in Molecular Life Sciences or a related field. You have a solid theoretical background in molecular and cell biology, as well as hands-on experience with standard molecular techniques such as PCR, cloning, RT-PCR, western blotting, cell culture and stem cell technology. Experience with molecular therapy, in particular, antisense technology, will be considered a strong plus.

You should have a strong ambition to succeed in science, be result-oriented, and have strong communication skills (both orally and in writing) and a high English level. You should possess a critical scientific attitude and should be able to work both independently as well as in a team.

Employment conditions

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. 

And there is more..

• An Employment Conditions Selection Model, allowing you to use part of your employment conditions to your choosing. For example, you can use your gross salary to purchase additional vacation hours or hours for providing informal caregiving. Or, for example, you can use your gross end-of-year bonus to purchase a bicycle, so you pay less tax.
• Plenty of opportunities for personal development. You can take a variety of courses in our online learning environment. 
• Your well-being and vitality are a priority. For example:
  • Save time for work-life balance leave. 
  • You can enjoy unlimited access to a variety of activities five days a month and take advantage of all the facilities at Radboud Sport & Culture for only €27.05 per month (instead of €41)
  • Healthy Professionals program to help you manage your energy. 
  • Company Support Team and a personal coach if you are going through a life-changing event.
  • Financially beneficial working less through a Generation Scheme as you approach state pension age.
• Support in achieving a good work-life balance at every stage of your life. Examples:
  • Advice and courses on, for example, 'Millennial dilemmas' and 'Your Career After 57'.
  • Activities at our own mindfulness center.
  • Informal caregiving consultations if you have questions about juggling work and caregiving responsibilities at home.
• In addition to statutory pregnancy and maternity leave, Radboud university medical center offers 26 weeks of parental leave, nine of which are paid. In addition, as a partner you can take a maximum of five weeks of supplementary partner leave. During supplementary partner leave and parental leave, we supplement the UWV benefit up to 100% of your salary.
• Pension accrual at the ABP Pension Fund. Radboud university medical center pays 70% of the pension premium. 
• Discounts on supplementary packages of two group health insurances and ten other types of insurance, from home insurance to legal assistance.
• An allowance for your commuting costs of € 0.18 per km up to a maximum of 40 km one way. If you use public transport to commute, we will fully reimburse the public transport costs (2nd class). If you regularly work from home, you will receive a working from home allowance of € 2.35 per day.

Application procedure

Are you ready to think further for our patients and our care? We would like to receive your application before 8 January 2025. We will then contact you shortly. The first job interviews takes place on 16 January 2025 online. The second round interviews are 30-31 January 2025 in person. We would appreciate it if you would take this into account.

Good to know

• This position requires a Certificate of Conduct (VOG).
• You can find more information about our application procedure and frequently asked questions on our website.
• Will you be our new colleague? Then you will be given the time and space to get to know your role, your workplace, and your colleagues. An induction day for all new colleagues is an integral part of your onboarding program. 

We are recruiting for this position ourselves. Unsolicited marketing is not appreciated, but do feel free to share the vacancy in your network!

Contact

Any questions? Or wondering what it is like to work at Radboudumc? Then email to Alex Garanto, associate professor and reseach group leader. Use the Apply button to submit your application.