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  • Netherlands

PhD position: Interpreting non-coding and structural genomic variation in renal ciliopathies

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1 Jul 2025

Job Information

Organisation/Company
Radboudumc
Department
Human Genetics
Research Field
Biological sciences » Biology
Researcher Profile
First Stage Researcher (R1)
Positions
PhD Positions
Country
Netherlands
Application Deadline
Type of Contract
Temporary
Job Status
Full-time
Is the job funded through the EU Research Framework Programme?
Horizon Europe - MSCA
Reference Number
Cilia-AI
Marie Curie Grant Agreement Number
101169364
Is the Job related to staff position within a Research Infrastructure?
No

Offer Description

MSCA-DN-2023Cilia-AI: A Cutting-Edge Research and Training Programme

Are you passionate about biomedical research or cell biology? Ready to make groundbreaking contributions to understanding ciliopathies through innovative machine learning approaches? 

Join the Cilia-AI consortium, and embark on an unparalleled research journey. 

Research Focus Areas and Positions: 

🧬 Ciliary Molecules: Structure and (Dys-) Function - 4 PhD positions: DC5,DC6, DC10, DC13

🔬 Cilia Biogenesis and Homeostasis - 5 PhD positions DC4, DC7, DC8, DC11, DC12

🌟 Cilia in Organ Development and Physiology - 5 PhD positions DC1, DC2, DC3, DC9, ADC

 

🚨 PhD Position DC13 available 🚨

📌 DC13: Interpreting non-coding and structural genomic variation in renal ciliopathies

Renal ciliopathies pose an important health burden. Short-read genome sequencing (srGS) is the upcoming standard in genetic diagnostics of rare disease. However, because the current interpretation is limited to the exome, 30-40% of patients with suspected genetic kidney disease, including renal ciliopathies, remain unsolved. Innovative approaches are required to interpret non-coding and structural genomic variation. We hypothesize that GS will increase diagnostic yield by 10-15% and improve treatment opportunities for patients with genetic kidney disease. We aim to: (1) Identify non-coding variation using srGS data from 30 patient-parent trios complemented by RNAseq; (2) Detect structural variation by performing long-read GS in 10 patients unsolved by srGS (3) Uncover novel therapeutic targets by ML-approaches that incorporate pathway and GO-term analyses for identified loci.

The project involves both wet lab experiments and bioinformatic analysis

If you have recently earned a master's degree or will obtain one by September 2025 in Life Sciences, Biomedical science, Biology or related field and you have affinity/interest in Bioinformatics, apply now and take the next step in your scientific journey! 

Don't miss out on the chance to make groundbreaking discoveries and be part of an innovative team!

We will review applications until the position is filled.

Where to apply

E-mail
Simone.Dusseljee@radboudumc.nl

Requirements

Research Field
Biological sciences » Biology
Education Level
Master Degree or equivalent
Skills/Qualifications

To apply for the PhD position, the applicant must fulfil the following conditions: 

• Have — at the date of recruitment — a Master’s degree in Life sciences, Biomedical science, Biology or related field and demonstrated affinity/interest with Bioinformatics.

Trans-national mobility: The applicant — at the date of recruitment — should not have resided in the Netherlands for more than 12 months in the 3 years immediately prior to recruitment, and not have carried out their main activity (work, studies, etc.) in the Netherlands. For refugees under the Geneva Convention (1951 Refugee Convention and the 1967 Protocol), the refugee procedure (i.e. before refugee status is conferred) will not be counted as ‘period of residence/activity in the country of the beneficiary’. 

• Be able to communicate (speaking and writing) fluently in English.

Languages
ENGLISH
Level
Excellent
Research Field
Biological sciences » Biology
Internal Application form(s) needed
Vacancy text DC13.pdf
English
(234.95 KB - PDF)
Download

Additional Information

Benefits

Marie Sklodowska-Curie PhDs are paid a competitive gross Living Allowance of 3,400 €/month, adjusted for their host country, a Mobility Allowance of 600 €/month and, for researchers who have a family, a Family Allowance of 660 €/month. All amounts are subject to deductions and taxes. Family is defined as persons linked to the researcher by (i) marriage, or (ii) a relationship with equivalent status to a marriage recognised by the national legislation of the country of the beneficiary or of nationality of the researcher, or (iii) dependent children who are actually being maintained by the researcher.

Eligibility criteria
  • Have — at the date of recruitment — a Master’s degree in Life sciences, Biomedical science, Biology or related field.
  • Trans-national mobility: The applicant — at the date of recruitment — should not have resided in the Netherlands for more than 12 months in the 3 years immediately prior to recruitment, and not have carried out their main activity (work, studies, etc.) in the Netherlands. For refugees under the Geneva Convention (1951 Refugee Convention and the 1967 Protocol), the refugee procedure (i.e. before refugee status is conferred) will not be counted as ‘period of residence/activity in the country of the beneficiary’.
  • Be able to communicate (speaking and writing) fluently in English.
Selection process

To apply for the position, submit as one single pdf document containing: 

  • a 1-page letter of motivation regarding the position as well as the Cilia-AI network;
  • a detailed CV, including education, work experience, skills, dissertations, research interests, career objectives, and names and contact details of two referees, that can include the supervisor of the master thesis, willing to provide confidential letters of recommendation;
  • a transcript of the master studies’ grades (including the overall grade and an explanation of the grading system) and the abstract of the master’s thesis if available; 

Submit to simone.dusseljee@radboudumc.nl

 *** Applications that do not meet these requirements will not be considered *** 

We will review applications until the position is filled.

Website for additional job details

Work Location(s)

Number of offers available
1
Company/Institute
Radboud University Medical Center Nijmegen
Country
Netherlands
City
Nijmegen
Postal Code
6525GA
Street
Geert Grooteplein 10
Geofield

Contact

City
Nijmegen
Website
Street
Geert Grooteplein 10
Postal Code
6525GA

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