THERAPEUTICS AND INNOVATION IN NEUROPEDIATRICS AND OTHER PAEDIATRIC RARE DISEASES (TIN-RD) 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 ultra-rare 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 ultra-rare 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 analyze 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 d'Hebron Pediatric Hospital since 2020. Deep brain stimulation (DBS) is a stereotaxic-based 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 non-responders 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 suspicion of genetic etiology after routine genetic testing methods have been non-conclusive (3) to analyze by preoperative magnetic resonance imaging studies morphological and/or microstructural factors in different brain regions capable of predicting the clinical efficacy of DBS. We will use advanced segmentation tools and obtain quantitative maps for volumetry (T1 sequences) and tissue integrity (DTI) to identify differences between DBS responders and non-responders. Education and qualifications: Required: Bachelor's Degree and Master in Biosciences related field Good academic records Good communication skills 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 hand-on 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 analysis Main responsibilities and duties: Management of databases from DBS surgery and analysis of variables associated to DBS outcome Handling, processing and storage of biological samples and associated data. Routine and non-routine experiments which will include molecular analysis 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 machine-learning methods, 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: Full-time position: 40h/week. Starting date: January 2025. Gross annual salary: 26000€/year Contract : Open-ended contract linked to the project What can we offer? Incorporation to Vall d'Hebron Research Institute (VHIR), a public sector institution that promotes and develops the biomedical research, innovation and teaching at Vall d'Hebron 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 high-end 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: 20-10-2024 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.
