Postdoctoral Researcher in Rare Skeletal Diseases

Karolinska Institute Department of Molecular Medicine and Surgery

Postdoctoral Researcher in Rare Skeletal Diseases

Do you want to contribute to improving human health?

The postdoctoral position is placed in the Clinical Genetics research group at MMK with Professor Outi Mäkitie and Professor Richard Rosenquist Brandell as project leaders. The research is focused on identifying genetic causes and molecular mechanisms in rare skeletal diseases. The group works closely with the Metabolic Bone Disease group at the University of Helsinki.

Your mission

We aim to recruit a highly motivated postdoctoral researcher with a strong research background in molecular genetics and rare skeletal diseases. The aim of the project is to identify new genetic causes for skeletal disorders with osteoporosis, abnormal mineral homeostasis, short stature, or deformities, and to characterize the molecular mechanisms through which the genetic defects lead to these diseases. The study includes patients and families who suffer from these rare diseases. We use mainly whole-genome sequencing and RNA-sequencing to identify the disease-causing gene defects.

Skills and personal qualities

We are interested in candidates with prior experience on a variety of genetic methods, e.g., exome and whole-genome sequencing data analysis, Sanger sequencing, and transcriptome analysis as well as familiarity with high performance computing environment, Linux, phyton, R scripting or other programming language. Other advantageous skills may include data analysis of short- and long-read sequencing (e.g., Oxford Nanopore, PacBio) as well as optical mapping (e.g., Bionano), and experience with whole genome methylation analysis. Once a disease-causing gene variant is found, the researcher will work together with other experts in the team to establish in vitro cell models to validate the findings.

The appointed person will be expected to work with molecular biologists, physicians and bioinformaticians, as well as to actively participate in national and international collaborative research projects. We are looking for an enthusiastic, ambitious, open-minded, and socially skilled person who can collaborate with others, is flexible and willing to take an active role in carrying the project forward. The successful candidate should be self-motivated and able to keep up to date and gain information on developments of the relevant research field, have excellent interpersonal and communication skills, organizational skills, and the ability to work productively and dynamically in a team, as well as take individual responsibility. The selected candidate will work in close collaboration with other members of the team; hence emphasis is put on personal suitability.

Your profile

Applicants are required to have completed a PhD degree or higher in a field related to the position, such as genetics, medicine, biomedicine, biotechnology, or similar. It is considered as an advantage if the applicant has completed the doctoral degree within the last three years; this term can be extended if there are special reasons. Applicants who have not completed a doctorate at the end of the application period may also apply, provided that all requirements for a completed degree are met before the (intended) date of employment. This must be substantiated by the applicant's main supervisor, director or equivalent.
Further requirements are:

  • Documented experience in molecular genetics and skeletal research.
  • Experience working in or familiarity with high performance computing environment, Linux, phyton, R scripting or any other programming language
  • Documented ability to write scientific articles and a track record of publications in international refereed journals.
  • Excellent communication skills and the ability to work both independently and in collaboration with colleagues in diverse fields, including clinical staff, and the ability to document work.

Personal suitability is an important criterion.

What do we offer?

A creative and inspiring environment with wide-ranging expertise and interests. Karolinska Institutet is one of the world's leading medical universities. Our vision is to pursue the development of knowledge about life and to promote a better health for all. At Karolinska Institutet, we conduct successful medical research and hold the largest range of medical education in Sweden. At KI, you get to meet researchers working with a wide range of specialisms and methods, giving you ample opportunity to exchange knowledge and experience with the various scientific fields within medicine and health. It is the crossover collaborations, which have pushed KI to where it is today, at the forefront of global research. Karolinska Institutet is also a state university, which entitles you to several benefits through our collective agreement.

Location: Solna


An employment application must contain the following documents in English or Swedish:

A complete resumé, including date of the thesis defence, title of the thesis, previous academic positions, academic title, current position, academic distinctions, and committee work A complete list of publications A summary of current work (no more than one page)

Welcome to apply at the latest August 15, 2022

The application is to be submitted through the Varbi recruitment system.

Want to make a difference? Join us and contribute to better health for all

Type of employment Temporary position longer than 6 months
Contract type Full time
Salary Månadslön
Number of positions 1
Working hours 100%
City Stockholm
County Stockholms län
Country Sweden
Reference number STÖD 2-3012/2022
Outimaija Mäkitie, Forskare,
Union representative
Virpi Töhönen, SACO,
Taher Darren-Shori, SACO,
Elisabeth Noren-Krog, OFR,
Published 07.Jul.2022
Last application date 15.Aug.2022 11:59 PM CEST
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