PhD Position: The Norwegian Undiagnosed Diseases Project

At the Department of Medical Genetics, Haukeland University Hospital, a position for a 3-year (full-time) PhD program is advertised, possible start date July 1st, 2026, or, upon agreement, later (i.e. because of work immigration requirements).

Do you want to contribute to international research in diagnostic and care strategies for People Living With Rare and Undiagnosed Syndromic Developmental Disorders? Do you have a flexible mindset, good organizational skills and want a varied everyday life? Apply to join the Douzgou-Houge research group!

The Department of Medical Genetics at Haukeland University Hospital is a national leader in Syndromic Developmental Disorders (SDD) diagnostics and research, and a central partner in the Norwegian Rare and Undiagnosed Disease Networks (Norwegian Node of ERN-ITHACA – NRN-ITHACA, Norwegian Precision Medicine Network – NorPreM, Norwegian Centre for Rare Diagnoses – NSSD). We work in close collaboration with national and international research partners, universities, and Patient Advocacy Organizations (PAO) to improve diagnostic and care strategies for People Living With Rare or Undiagnosed Disease (PLWR-or UD).

Our project, the Norwegian Undiagnosed Diseases Project, aims to establish a best-practice diagnostic framework for genetically unsolved PLWUD and a SDD, based on composite approaches. The PhD candidate will be directly supervised by leading experts in phenotyping, patient advocacy, genetic variant interpretation, and molecular biology, and will be working in a highly collaborative environment, including national and international leaders in functional variant interpretation, bioinformatic innovation, biochemical profiling and AI-powered phenotyping.

Possible research questions include:

What is the diagnostic yield of a national network-based, systematic approach to targeted investigations in undiagnosed SDD?
What is the added diagnostic value of advanced genomic tests (optical genome mapping, long-read genome sequencing, genomic methylation profiling, BRAIN-MAGNET functional testing of non-coding variants, RNA deep sequencing)?
How many novel causes of SDD can be identified using composite approaches?
How do novel genotype–phenotype correlations expand our understanding of rare SDD?
What is the diagnostic utility of machine-learning-based recognition of SDD?

Arbeidsoppgåver

What you will do/what to expect:

Curation of the Norwegian Undiagnosed Syndromes Cohort

Retro‑/prospective capture and standardization of genotype‑phenotype data on undiagnosed developmental syndromes with structured review of under‑recognized etiologies.

Primary outcome: Building a strong data system to enable impact: detailed spectra of variants/phenotypes, novel genotype‑phenotype correlations, recommendations for national pathways and integration in international ones.

Based on the skillset of the successful candidate, they will also be involved in (1) and/or (2):

1. Learning from Functional genomic analyses and GestaltMatcher

Optical genome mapping (Bionano) and short-read RNA deep sequencing (Illumina) will be done in Bergen; Long-read genome sequencing (PacBio) will be done at Radboud UMC in Nijmegen; Genomic methylation profiling at the Northwest NHS Genomic Laboratory Hub in Manchester, United Kingdom and in Bergen (currently being established, following EpiSign International SOPs); Identification of variants affecting non-coding regulatory elements in collaboration with the Barakat lab at Erasmus UMC in Rotterdam. Ad hoc functional tests will be developed in selected cases in Bergen and partner labs (e.g., in Leuven by Veerle Janssens research group on protein phosphatase 2A and in Norway by the FunkiS network).

Deep facial phenotyping using the GestaltMatcher Database, in collaboration with the Tzung-Chien research group, Bonn, Germany.

Secondary outcome (1): Incremental improvement in variant interpretation and diagnostic uplift using functional genomic and AI approaches.

2. Honoring Family Experience and Natural History

Co-design, dissemination of accessible questionnaires (people‑first language) with national and international PAOs and analysis of results: symptom trajectories, service use, lived challenges, transition to adulthood, mental health, education/employment, caregiver burden, priorities for surveillance and interventions.
Secondary outcome (2): pragmatic, family‑grounded insights for surveillance, transitions of care, adult outcomes, and supportive services.

Kvalifikasjonar

Required skills, expertise and experience:

The necessary requirement is a degree in medicine (MD) or molecular biology (MSc).
A specialty in medical/clinical genetics will be a special advantage.
Good written and oral communication skills in English.
Good IT skills, e,g, in using bioinformatic tools, Excel, REDCap and R statistical software.
Professional experience in clinical medicine, genetic diagnostics, molecular laboratory work and/or genetic counseling will represent an advantage.

Personlege eigenskapar

Ability to work independently and collaboratively in interdisciplinary and international teams.
Good organisational skills, curiosity and dedication.

Vi tilbyr

For the right candidate we offer:

A 3-year (100%) PhD position: 37.5 hours per week including part-remote/working from home (percentage to be agreed).
Enrolment in the PhD program of the University of Bergen.
Annual salary NOK 636.000. A higher salary may be considered for particularly qualified applicants.
Working in an internationally recognized, leading clinical research environment.
Close collaboration with national and international experts, including ERN-ITHACA and EpiSign International.
Opportunities for professional development through expert syndromology training, cutting-edge research and networking.
Involvement in research with direct clinical and societal impact.

How to apply

Your application must include:

A short motivation letter (max. 1 page, where you describe why you want to do research, why this project interests you, and how your profile matches what we are looking for).
CV (including a list of scientific publications, if applicable).
Documentation of English language proficiency according to the framework: https://www.uib.no/en/med/115526/english-language-requirements-phd-admission .
The names and contact information of two references.
Original qualification diplomas, and certificates (single merged pdf).

All documents must be provided in English or a Scandinavian language. In case of originals in a different language, please upload certified translations into English language.

The documents must be uploaded using the Haukeland University Hospital’s recruitment portal (WebCruiter, this portal).

Application deadline: 20.05.2026.

Interviews are planned on 9th and 10th June 2026 and can be held both in person and remotely (on-line). No travel expenses are covered.

Candidates are expected to openly offer all relevant information about themselves during the recruitment process. Background checks may be conducted on all final candidates to ensure compliance with applicable export control and sanctions rules.
Positions at the Haukeland Hospital will require a declaration of keeping patient confidentiality and may require further documentation of e.g. record of vaccination.

For candidates from an EU country, a work permit in Norway is included in the EU/EEA agreement, see https://www.udi.no/en/word-definitions/eueea-national/.
For candidates from countries outside the EU, you will have to apply for a work permit as a skilled worker and, often, a Visa. The waiting time for obtaining the necessary permits is 45 days, at least, see https://www.udi.no/en/word-definitions/skilled-worker/.

If you need further information, please contact the PI of the project:
Dr Sofia Douzgou Houge
Principal Investigator, The Norwegian Undiagnosed Diseases Project
Department of Medical Genetics, Haukeland University Hospital
Email: sofia.douzgou.houge@helse-bergen.no

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Kontaktinformasjon

Sofia Douzgou Houge, Senior Consultant in Medical Genetics, sofia.douzgou.houge@helse-bergen.no
Gunnar Douzgos Houge, Western Norway Precision Medicine Lead, gunnar.douzgos.houge@helse-bergen.no

Arbeidsstad

Jonas Lies vei 66
5053 Bergen

Nøkkelinformasjon:

Arbeidsgivar: Helse Bergen HF

Referansenr.: 5102796326
Stillingsprosent: 100%
Engasjement
Startdato: 01.07.2026
Sluttdato: 30.06.2029
Søknadsfrist: 20.05.2026

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