PhD Position in Genomic Medicine and Rare Disease Research at Haukeland University Hospital Haukeland University Hospital in Norway

The Department of Medical Genetics at Haukeland University Hospital in Bergen, Norway, is offering a fully funded 3-year PhD position within the Norwegian Undiagnosed Diseases Project. This opportunity is ideal for medical doctors or molecular biologists interested in advancing diagnostic and care strategies for people living with rare and undiagnosed syndromic developmental disorders. The research group, led by Dr. Sofia Douzgou Houge, is a central partner in the Norwegian Rare and Undiagnosed Disease Networks and collaborates closely with national and international research partners, universities, and patient advocacy organizations.

The PhD candidate will curate the Norwegian Undiagnosed Syndromes Cohort, standardize genotype-phenotype data, and contribute to building a robust data system for variant and phenotype analysis. Research will involve advanced genomic technologies such as optical genome mapping, long-read genome sequencing, genomic methylation profiling, and AI-powered phenotyping. The project aims to establish best-practice diagnostic frameworks and expand understanding of rare syndromic developmental disorders through novel genotype–phenotype correlations.

Applicants must have an MD or MSc in molecular biology, with a specialty in medical/clinical genetics considered a strong advantage. Good English communication skills and proficiency in bioinformatics tools, Excel, REDCap, and R are required. Experience in clinical medicine, genetic diagnostics, molecular laboratory work, or genetic counseling is beneficial. The position offers a competitive annual salary (NOK 636,000), enrolment in the University of Bergen PhD program, and professional development opportunities in a leading clinical research environment.

To apply, submit a motivation letter, CV, documentation of English proficiency, references, and qualification diplomas/certificates via the WebCruiter portal. All documents must be in English or a Scandinavian language. The application deadline is 20 May 2026. For further information, contact Dr. Sofia Douzgou Houge at [email protected].