Postdoctoral Researcher in Rare Skeletal Diseases

Do you want to contribute to top quality medical research?

The Clinical Genetics Research Group at the Department of Molecular Medicine and Surgery (MMK) is seeking a postdoctoral researcher to contribute to a project focused on identifying the genetic causes of rare skeletal disorders. We use a variety of genetic methodologies, including whole-genome sequencing and RNA-sequencing, to identify disease-causing gene defects. Our collaborations extend both nationally and internationally. We offer an inspiring research environment, with cutting-edge research in the field of genetics and rare skeletal diseases.

 The Department of Molecular Medicine and Surgery (MMK) carries out both preclinical and clinical research in several fields of science. Linked to the department are approximately 600 researchers, postgraduate students, teachers and technical & administrative staff and we currently have about 150 PhD students. The department is conducting undergraduate courses for medical students, physiotherapist students, biomedicine students and biomedical laboratory students.

Division

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 clinical genetics and bioinformatics. The aim of the project is to identify new genetic causes for skeletal disorders with osteoporosis and abnormal mineral homeostasis, and to characterize the molecular mechanisms through which the genetic defects lead to the phenotype. The study includes patients and families who suffer from these rare diseases. We use mainly whole-genome sequencing, RNA-sequencing, and other cutting-edge methodologies to identify the disease-causing gene defects.

Your profile

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 highthroughput methylation analysis. Previous experience with variant interpretation and classification using the American College of Medical Genetics and Genomics (ACMG) guidelines would be advantageous.

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; therefore, emphasis is put on personal suitability.

To be eligible for employment as a postdoctoral researcher, a PhD or a foreign degree deemed to be equivalent to a Swedish PhD is required. This eligibility requirement must be fulfilled at the latest at the time of the employment decision. Completion of your doctoral degree within the last three years is considered an advantage. If there are special reasons, your degree may have been completed earlier.

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. 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. Several of the people you meet in healthcare are educated at KI. A close relationship with the health care providers is important for creating groundbreaking top quality education and research. Karolinska Institutet is also a state university, which entitles you to several benefits through our collective agreement.

Location: Solna

https://ki.se/en/research/research-areas-centres-and-networks/research-groups/clinical-genetics-richard-rosenquist-brandells-research-group/metabolic-bone-diseases 

Choose to work at KI – Ten reasons why

Application

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

• PhD certificate
• 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 2025-03-14

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

Permanent position is initiated by a six months trial period.

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