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Specialist in Pediatric Neurology


Blueprint Genetics is on a mission to bring world-class genetic knowledge to mainstream healthcare. We are a team of experienced professionals with diverse backgrounds who share the passion for helping patients and families suffering from inherited disorders. Our constantly evolving diagnostic portfolio currently includes over 400 tests that cover a wide variety of clinical specialties and diagnostic approaches, including Whole Exome Sequencing. We work with hundreds of clinics around the globe and the quality of our interpretation has been praised by many of the world’s best medical centers.

To further develop our testing portfolio and to support our Geneticists in interpreting the results of genetic testing, we are looking for a Specialist in Pediatric Neurology  to join our Clinical Interpretation Team. This position is full-time, but also part-time work (e.g. 50 %) is possible. If you have the ambition to be among the pioneers of the molecular era of medicine, you might be the person we are looking for. 

Job description

You will provide Clinical expertise for our Clinical Interpretation Team in panel and exome diagnostics interpretation, as well support our customers in selecting the most optimal testing strategy for genetic diagnostics as part of our Clinical Genetics Support service. 

Furthermore, in this position you will be evaluating and improving our test portfolio to meet new clinical needs; especially in the field of neurology and pediatric neurology.  In addition, you will be part of our team effort to validate new approaches, developing tools and strategies needed for keeping up with newly characterized disease genes. 



  • M.D., with completed or very soon completed specialist training in Pediatric Neurology
  • Ph.D in relevant field appreciated

Experience and skills:

  • Clinical experience working with a wide spectrum of pediatric neurologic disorders (including epilepsy, developmental delay/intellectual disability, muscular disorders etc.). Other clinical experience is considered as beneficial.
  • Beneficial experience includes knowledge about Next-Generation Sequencing, other DNA analysis methods and the various current genomic information and variant databases
  • Familiarity with dysmorphology and congenital structural anomalies is beneficial
  • Fluent skills in oral and written English are a necessity

As a person, we expect you to have:

  • Great attention to detail
  • Critical thinking when reviewing scientific literature
  • Effective planning and organization skills
  • Communication and team-working skills 
  • Excellent follow-through abilities
  • Fitting the immediate, low-hierarchy and positive Blueprint culture

What we offer

At Blueprint Genetics, you get to be a valued part of our global and multidisciplinary team of people who want to make a difference. You will be working daily to bring your expertise from base pairs to bedside for improved patient outcomes. We offer you a rapidly evolving working environment where you can learn and grow together with a unique company and great colleagues. You get to use everything you have learned in an environment that is unlike anything you have experienced before.

Please submit your application and CV along with your salary request at the latest on December 31st. Position will be filled as soon as suitable candidate is found. 

Inquiries about the position can be sent to Clinical Interpretation Team Leader Dr. Eveliina Salminen at eveliina.salminen[at]blueprintgenetics.com.

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