Research Specialist in rare Skeletal Diseases

Do you want to contribute to top quality medical research?

The research specialist position is based in the Clinical Genetics research group at the Department of Molecular Medicine and Surgery (MMK), led by Professor Outi Mäkitie and Professor Richard Rosenquist Brabdell. The group focuses on identifying the genetic causes and molecular mechanisms underlying 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 at least 3 years of research experience after obtaining a PhD, and with a strong background in molecular genetics, rare skeletal diseases, and molecular and cell biology. The project focuses on identifying novel genetic causes of skeletal disorders characterized by osteoporosis, abnormal mineral homeostasis, short stature, or skeletal deformities, and on elucidating the molecular mechanisms by which the genetic defects lead to disease.

The study involves patients and families affected by rare skeletal diseases. We primarily use whole-genome sequencing and RNA sequencing to identify the disease-causing variants, followed by functional validations through different in vitro approaches, including cell culture, quantitative real-time PCR, and western blot. When novel gene-disease associations are discovered, corresponding in vivo models, such as genetically modified mice, are also generated to further investigate disease mechanisms.

Eligibility requirements

For employment as Research Specialist at Karolinska Institutet, the eligibility requirements stated in the Guidelines for non-teaching positions at Karolinska Institutet are applied in relation to the established profile of employment.

To be eligible for employment as a Research Specialist, in addition to holding a PhD degree, the applicant must have demonstrated research expertise as well as have documented research experience after defending their doctoral dissertation. Candidates should have at least 3 years of postdoctoral experience in a relevant field such as genetics, medicine, biomedicine, or biotechnology.

The ideal candidate will have a solid background in cell and molecular biology, with extensive experience in genetic and functional studies.

Required skills and qualifications:

• Documented experience in human genetics and skeletal diseases.

• Proven ability in genetic data analysis, including whole genome sequencing and variant interpretation/reporting.

• Hands-on wet-lab experience in molecular genetics techniques for studying the effects of genetic variants at the DNA, RNA, and protein levels.

• Extensive experience in animal modeling and skeletal phenotyping, including microCT and histological analysis.

• Documented ability to write scientific manuscripts and a strong publication record in peer-reviewed international journals.

• Experience in project coordination, collaborative research, and student supervision.

• Excellent communication skills and the ability to work independently as well as collaboratively across disciplines, including with clinical teams.

• Strong organization skills and ability to document and present research effectively.

Personal suitability will be given significant consideration.

Skills and personal qualities

We are looking for a motivated researcher with experience in genetic and molecular methods, including exome and whole-genome sequencing data analysis, Sanger sequencing, and transcriptome analysis as well as with solid wet-lab skills. The candidate should be proficient in genetic variant interpretation and reporting and able to validate findings using in vitro approaches. Previous experience in animal modeling and skeletal phenotyping is considered a strong advantage.

The successful candidate will be expected to coordinate multiple research project, engage in collaborations, and supervise students within the research team. The role involves close interaction with molecular biologists, physicians and bioinformaticians, as well as active participation in national and international collaborative research projects. We are seeking an enthusiastic, ambitious, open-minded individual with strong communication and organizational skills, who can work both independently and in a team. The candidate should be self-motivated, adaptable, and committed to advancing the project and research goals.

After an overall assessment of qualifications and merits of the applicants in relation to the subject area, Karolinska Institutet will determine the candidate who has the best potential to contribute to a positive development of the activities at KI.

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. Here, 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

 Choose to work at KI - Ten reasons why

Application

We prefer that Your application is written in English, but You can also apply in Swedish. An application must contain the following documents:  PhD certificate, resumé, qualifications and description of planned research, presented in accordance with Karolinska Institutet's qualifications portfolio.

Welcome to apply at the latest 2025-12-03

The application must 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!