Research Specialist in Rare Skeletal Diseases

Do you want to contribute to top quality medical research?

The research specialist 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 who has at least 4 years of research experience after obtaining his/her PhD and has a strong 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. Functional validations using different in vitro methods, including for example cell culture, quantitative real-time PCR, and western blot are also performed. In vivo zebrafish and/or murine models might also be generated if a novel gene-disease association is identified.

Qualifications

To be eligible for employment as a Research Specialist, in addition to holding a Degree of Doctor, PhD, or having equivalent scientific expertise, the applicant must have demonstrated research expertise as well as have documented research experience after defending their doctoral dissertation. You have at least 4 years of postdoctoral experience in a field related to the position, such as genetics, medicine, biomedicine, biotechnology, or similar. Further requirements are:

Documented experience in human genetics and skeletal diseases.
Experience in analyzing genetic data and reporting genetic variants.
Documented experience of high-throughput sequencing technologies.
Wet-lab experience in using different molecular genetics methods to assess the effect of candidate genetic variants at DNA, RNA, and protein levels.
Experience in animal modeling and skeletal phenotyping is preferred.
Documented ability to write scientific articles and a track record of publications in international refereed journals.
Ability in coordinating research projects, carrying out collaborations, and supervising students.
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.

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 with wet-lab skills. The candidate should know how to carry out genetic variant interpretation and reporting and to validate her/his findings using appropriate in vitro methods. Other advantageous skills include previous experience in animal modelling and skeletal phenotyping. The candidate should also be able to coordinate different research projects, carry out collaborations, and supervise the students in the team.

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.

After an overall assessment of the expertise and merits of the applicants in relation to the subject area, Karolinska Institutet will determine which of them 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

Application

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

Welcome to apply at the latest 2023-12-05.

The application must be submitted through the Varbi recruitment system.

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