Master Graduate Researcher Theutics and Innovation in Neuropediatrics and other Paediatric Rare Diseases TIN-RD Group
Master Graduate Researcher Theutics and Innovation in Neuropediatrics and other Paediatric Rare Diseases TIN-RD Group
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Job Description
THEUTICS AND INNOVATION IN NEUROPEDIATRICS AND OTHER PAEDIATRIC RARE DISEASES (TINRD) GROUP
The group aim is to promote the implementation of advanced therapies and innovative therapies of high technological complexity in pediatric rare diseases specifically in Neurological ultrarare diseases that impact the motor development of children and adolescents.
The group aims to promote precision diagnosis and precision medicine in children with severe impairment in motor development in order to improve quality of life from early life. We focus our research in three main objectives: (1) to perform a precise genetic diagnosis of ultrarare diseases causing disorders of motor development in childhood and adolescence; (2) to develop programs for a personalized medicine according to the clinical phenotype and genetic background of our patients; (3) to yze digital and imaging biomarkers that predict best outcomes and select best candidates for the different therapies offered by the group.
In this call we offer a master graduate position to study predictors of efficacy in children with motor development disorders and dystonia treated with deep brain stimulation (DBS) a high technologically innovative therapy that has been implemented at Vall dHebron Pediatric Hospital since 2020. Deep brain stimulation (DBS) is a stereotaxicbased neurosurgical procedure that implants deep electrodes in the globus pallidus internus to stimulate brain circuits involved in the origin of dystonia. After having completed more than 40 DBS surgeries in children suffering from cerebral palsy and rare diseases causing dystonia we offer a master internship to study predictors of efficacy among different variables (genetics phenotypic and neuroimaging). The aim of this project is to identify differences between DBS responders and nonresponders in order to identify the best candidates for DBS. The project will focus on two main objectives: (1) to perform precision diagnosis by applying innovative technologies such as genome sequencing and optical genome mapping in patients with a high suion of genetic etiology after routine genetic testing ods have been nonconclusive; (3) to yze by preoperative magnetic resonance imaging studies morphological and/or microstructural factors indifferent brain regions capable of predicting the clinical efficacy of DBS. We will use advanced segmentation tools and obtainquantitative maps for volumetry (T1 sequences) and tissue integrity (DTI) to identify differences between DBS responders and nonresponders.
Education and qualifications:
Required:
- Bachelors Degree and Master in Biosciences related field
- Good academic records
- Good communication ss in English
Desired:
- Experience in clinical and/or basic research in biomedicine
- Experience in neurosciences and biocomputational science
Experience and knowledge:
Required:
- Experience in common molecular techniques
- Strong training or handon experience in biostatistics and/or data mining
- Experience in management of databases
Desired:
- Experience in cell culture
- Experience in handling of human biological samples
- Experience in genetic ysis
Main responsibilities and duties:
- Management of databases from DBS surgery and ysis of variables ociated to DBS outcome
- Handling processing and storage of biological samples and ociated data.
- Routine and nonroutine experiments which will include molecular ysis utilizing standard techniques (DNA and RNA extraction PCR) and cell culture experiments.
- Collaborate with genetic studies. To work on variant prioritization resources. Integration of regularly updated databases public and private variant prioritization tools using machinelearning ods bioinformatics predictors of intronic/UTR variant damage gene panels reviewed and updated by the group and international consortia use of deep phenotyping strategies and transomic approaches
- Collaborate with administrative and laboratory management tasks.
Labour conditions:
- Fulltime position: 40h/week.
- Starting date: January 2025.
- Gross annual salary: 26000/year
- Contract: Openended contract linked to the project
What can we offer
- Incorporation to Vall dHebron Research Institute (VHIR) a public sector institution that promotes and develops the biomedical research innovation and teaching at Vall dHebron University Hospital (HUVH) the biggest hospital of Barcelona and the largest of Catalan Institute of Health (ICS).
- A scientific environment of excellence highly dynamic where highend biomedical projects are continuously developed.
- Continuous learning and a wide range of responsibilities within a stimulating work environment.
- Individual training opportunities.
- Flexible working hours.
- 23 days of holidays 9 personal days.
- Flexible Remuneration Program (including dining checks health insurance transportation and more)
- Corporate Benefits: platform through which you can obtain significant discounts on travel culture technology gastronomy sports... among many others.
- Healthy Offering: choose from a variety of wellbeing focused activities to be the healthiest you.
Deadline to apply:
VHIR embraces Equality and Diversity. As reflected in our values we work toward ensuring inclusion and equal opportunity in recruitment hiring training and management for all staff within the organization regardless of gender civil status family status sexual orientation gender identity and expression religion age functional diversity or ethnicity.
Employment Type
Full Time
