PhD candidate 'Bridging the Gap: Exploring Missing Heritability in Rare Diseases'

We are seeking a highly motivated PhD candidate to join our research team working at the intersection of genomics, rare diseases, and genetic tumor risk syndromes. The project focuses on the identification and interpretation of genomic variants to unravel disease mechanisms in patients with suspected genetic disorders or hereditary cancer predispositions.

Using large-scale next-generation sequencing (NGS) data, you will contribute to the discovery of novel disease genes, the interpretation of variant pathogenicity, and the elucidation of underlying molecular pathways. The work will involve close collaboration between clinicians, bioinformaticians, and molecular biologists in an interdisciplinary and translational research environment.

Tasks and responsibilities

• Analyzing and interpreting NGS data, including short- and long-read whole-genome sequencing (WGS) and whole-exome sequencing (WES) data, to identify post-zygotic and germline variation, structural variation, and other genomic abnormalities.
• Design and perform scientific research in the area of rare diseases, particularly genetic tumor risk syndromes.
• Present findings at local and (inter)national scientific meetings.
• Collaborate with researchers within European Reference Networks (ERN) and the European Rare Diseases Research Alliance (ERDERA; erdera.org).
• Work in an interdisciplinary team with other students and scientists to discuss, plan, and perform research.
• Finish the project with a scientific dissertation.

This position offers a dynamic and supportive research environment with ample opportunities for professional and academic development.

You must hold a Master's degree in Molecular Biology, Genetics, Medical Biology, Biomedical Sciences, or a related discipline. We are looking for an enthusiastic and motivated candidate with a strong and demonstrable interest in genomics, rare diseases, and/or tumor risk syndromes.

Experience with next-generation sequencing technologies, bioinformatics, and statistical analysis is highly desirable. Familiarity with scripting languages (e.g., R) and working in a Linux/command-line environment is considered an advantage.

Moreover, you have:

• A critical and analytical scientific mindset.
• Attention to detail and a structured approach to data management.
• Excellent communication and interpersonal skills.
• Fluency in both spoken and written English.
• The ability to work independently as well as collaboratively in an interdisciplinary research team.
• Curiosity, resilience, and a strong drive to learn and innovate.

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.
• From 1 July 2025 an increase in salary with 3%.
• 176 vacation hours per year based on a 36-hour working week.

The Department of Genetics is involved in genetic counseling, diagnostic and scientific research into genetic disorders, rare diseases and congenital abnormalities. The department has over 400 employees and consists of three closely collaborating sections: Clinical Genetics, Genome Diagnostics, and Genome Research. This collaboration results in a leading department with a constant drive for innovation and improvement in diagnostics and genetic care.

The department of Human Genetics participates in several of the Radboudumc Research programs, such as the research program 'Genomics for Rare Diseases' and 'Hereditary Cancer'. These programs work at the forefront of rare disease gene and mechanism discoveries, aiming to enhance rare disease understanding and diagnostics through comprehensive data sharing, advanced genomic technologies, and functional interpretation of genetic variation. The research of this PhD trajectory is embedded within the Research Institute for Medical Innovation, and the development of the PhD candidate is supported by the Radboud Graduate School.

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.

Any questions? Or wondering what it is like to work at Radboudumc? Then email to Richarda de Voer, Associate Professor Cancer Genomics. Use the Apply button to submit your application.