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To be a doctoral student means to devote oneself to a research project under supervision of experienced researchers and following an individual study plan. For a doctoral degree, the equivalent of four years of full-time doctoral education is required.
The research group of Professor Anna Wedell is interested in diagnosing, validating and identifying the molecular consequences of rare genetic epilepsies and inherited metabolic diseases (IEM). Together with the Centre for inherited metabolic diseases (CMMS) at Karolinska University Hospital, the group aims to improve the current tools used for diagnosis, increase our knowledge of genotype-phenotype relationships, to understand the biological mechanisms that lead to disease, and eventually to lay the basis for individual treatments strategies.
These goals are achieved by working within an integrated environment including CMMS, the Clinical Genetics Department, and the Neuropediatric Unit. State-of-the-art high-throughput genomics and transcriptomics are available through the Genomic Medicine Center Karolinska (GMCK), which is a collaboration with the Clinical Genomics facility at Science for Life laboratory in Solna. The candidate will also have access to the research team of the co-supervisor Professor Anna Lindstrand focussing on rare diseases genomics.
We are looking for a highly motivated person with previous experience of genetic epilepsies, curation of clinical phenotypes and analysis of whole genome sequencing data. The successful applicant will analyse data from massive parallel DNA and RNA sequencing from patients and families with suspected rare genetic epilepsies. Additionally, he or she will work closely together with clinical partners to perform detailed patient phenotyping, and generally assist in diagnosing and validating genetic abnormalities causing rare genetic epilepsies. Experience in working with large-scale data sets in combination with clinical information is essential. This project provides the opportunity to participate in a translational project with direct clinical implications.
CMMS is a clinical laboratory at the Karolinska University Hospital, specialising in diagnosing IEMs and genetic epilepsies. The centre has a unique integrated organisation where clinical and laboratory medicine are combined, allowing comprehensive investigations across medical specialties. Additionally, CMMS is the national centre for newborn screening. CMMS is integrated with the research group of Professor Wedell, providing a creative and inspiring environment full of expertise and curiosity. This is further enhanced by close collaborations with GMCK, the research group of Professor Lindstrand, and the Neuropediatric Unit at Karolinska University Hospital.
A creative and inspiring environment full of expertise and curiosity. 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. As a doctoral student you are offered an individual research project, a well-educated supervisor, a vast range of elective courses and the opportunity to work in a leading research group. Karolinska Institutet collaborates with prominent universities from all around the world, which ensures opportunities for international exchanges. You will be employed on a doctoral studentship which means that you receive a contractual salary. Employees also have access to our modern gym for free and receive reimbursements for medical care.
In order to participate in the selection for a doctoral position, you must meet the following general (A) and specific (B) eligibility requirements at latest by the application deadline.
It is your responsibility to certify eligibility by following the instructions on the web page Entry requirements (eligibility) for doctoral education.
A) General eligibility requirement
You meet the general eligibility requirement for doctoral/third-cycle/PhD education if you:
Follow the instructions on the web page Entry requirements (eligibility) for doctoral education.
*If you claim equivalent knowledge, follow the instructions on the web page Assessing equivalent knowledge for general eligibility for doctoral education.
B) Specific eligibility requirement
You meet the specific eligibility requirement for doctoral/third-cycle/PhD education if you:
- Show proficiency in English equivalent to the course English B/English 6 at Swedish upper secondary school.
Follow the instructions on the web page English language requirements for doctoral education.
Verification of your documents Karolinska Institutet checks the authenticity of your documents. Karolinska Institutet reserves the right to revoke admission if supporting documents are discovered to be fraudulent. Submission of false documents is a violation of Swedish law and is considered grounds for legal action.
(A) and (B) can only be certified by the documentation requirement for doctoral education.
A degree within the area of biomedical research is required. We are seeking a new group member with a broad range of interests and experience in the following key areas:
1) Curate clinical data, reading and understanding patient records.
2) Analysis of OMICs data (RNA and/or DNA)
3) Specific knowledge of rare epilepsies, including the ability to collate patient medical histories to form an epilepsy syndrome diagnosis, is essential. The candidate should demonstrate an understanding of genetic etiologies of epilepsies through professional experience and have experience working with large clinical data sets and databases. Previous experience working with an interdisciplinary environment liaising between disciplines is essential. Project management of clinical research studies and experience working with patients is of merit.
The applicant will be evaluated based on education and previous experience, relevance for the project, publications and track records, motivation, problem solving skills, and cooperative ability. Personal suitability is also an important criterion.
The doctoral student will be employed on a doctoral studentship maximum 4 years full-time.
Submit your application and supporting documents through the Varbi recruitment system. Use the button in the top right corner and follow the instructions. We prefer that your application is written in English, but you can also apply in Swedish.
Your application must contain the following documents:
- A personal letter and a curriculum vitae
- Degree projects and previous publications, if any
- Any other documentation showing the desirable skills and personal qualities described above
- Documents certifying your general eligibility (see A above)
- Documents certifying your specific eligibility (see B above)
A selection will be made among eligible applicants on the basis of the ability to benefit from doctoral education. The qualifications of the applicants will be evaluated on an overall basis.
Karolinska Institutet uses the following bases of assessment:
- Documented subject knowledge of relevance to the area of research
- Analytical skill
- Other documented knowledge or experience that may be relevant to doctoral studies in the subject.
All applicants will be informed when the recruitment is completed.
Read more: https://ki.se/en/mmk/inborn-errors-of-endocrinology-and-metabolism
Type of employment | PhD placement |
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Contract type | Full time |
Salary | Månadslön |
Number of positions | 1 |
Full-time equivalent | 100 |
City | Stockholm |
County | Stockholms län |
Country | Sweden |
Reference number | STÖD 2-5764/2021 |
Contact |
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Union representative |
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Published | 20.Dec.2021 |
Last application date | 09.Jan.2022 11:59 PM CET |