Postdoc to development of Next-Generation Sequencing protocols for newborn screening
Current advances in the treatment of rare diseases lead newborn screening programs to consider a constantly growing number of disorders. Currently, newborn screening programs face limitations in identifying disorders with no metabolic or endocrine biomarkers. In this context,
- the Thameus project aims to establish a dynamic genomic neonatal screening, which not only detects the commonly listed disorders but also considers the inclusion of new genetic diseases in a timely and economical fashion, in order to accelerate clinical development and maximize the effect of innovative new therapies.
- For most of newly developed treatments, early or pre-symptomatic administration of the therapy is strongly correlated with higher life expectancy, avoidance of severe disabilities, and fewer complications during the course of life.
Responsibilities:
- To participate in the development and validation of a genomic sequencing platform for newborn screening (from DNA extraction of dried blood spots to variants reporting) with respect to clinical quality standards.
- To manage heterogenous databases (newborns, variants…) and registries.
- To organize and/or participate in molecular boards for variant interpretation and clinical reports.
- To set up bioinformatic protocols, in collaboration with our bio-informatic team, for variants, indels and CNVs detection, filtering and interpretation.
- To collaborate with clinicians for gene selection, data interpretation and panel evolutions (gene and variants).
- To integrate genomic data with biochemical results, when appropriate.
- To review and publish lab SOPs.
- To support science communication efforts including conferences and writing articles.
- To ensure compliance to quality standards set by regulations, procedures and mission.
Tenure
A two-year contract will be offered with possible extension for at least 2 years
Qualifications and abilities:
- Post-doctoral scientist with experience in Next-Generation Sequencing in the field of human genetics, preferably constitutional genetics, and in a medical environment.
- Good knowledge of the bio-informatic tools for variant calling and interpretation. Ability to collaborate with the bio-informatic team for specific developments.
- Ability to work with a multidisciplinary team and to interact with all the partners from the hospital and the GIGA-Research unit.
- Ability to organize and prioritize work duties and to function as a team-member; an experience in project management would be a plus. Ability to encourage positive dynamics within the team.
- Good written and oral communication skills.
- Language skills: knowledge of French and English is mandatory.
How to apply
Applications should be sent before to
- Prof Laurent SERVAIS : laurent.servais@paediatrics.ox.ac.uk
- Dr François BOEMER : f.boemer@chuliege.be
- Dr Jean-Hubert CABERG : caberg@chuliege.be
Type of position | Postdoctoral |
Subjects | Life science, bioinformatic, human genetics, medical environment |
Last date | April 30th 2020 |