Associate Postdoctoral Researcher Therapeutics and innovations in neuropediatrics and other paediatric rare diseases tin-rd group

Vacant position for a Posdoctoral researcher focused on analysis of multiOMICs functional and clinical data for personalized medicine in sickle cell disease within the group on Rare anemia Disorders/ Cancer and Blood disorders in children

Sickle Cell Disease (SCD) is a genetic blood disorder caused by a mutation in the HBB gene leading to abnormal hemoglobin S (HbS). This causes red blood cells to become sickleshaped leading to vascular disfunction and obstruction hemolysis pain crises and organ damage.

Key Challenges:

Limited Curative Options Stem cell transplantation (available for a minority); gene therapy is promising but costly.

Healthcare Disparities Many affected populations lack access to advanced treatments.

Pain & Symptom Management Current drugs help but arent universally effective.

Genetic Complexity Disease severity varies; machine learning (ML) and precision medicine could improve treatment strategies.

Organ Damage & Early Mortality Longterm complications affect survival and quality of life.

Efforts to improve SCD treatment and management are increasingly leveraging multiomics approaches and integrated clinical data analysis. By combining insights from genomics metabolomics rheology with patientspecific clinical data researchers can gain a deeper understanding of disease mechanisms and personalize treatment strategies.

Education and qualifications:

Required:

• Bachelors and/or Masters degree in Biological Sciences Biomedicine or related fields
• Doctorate in Genetics Biomedicine or related fields
• Fluency in Spanish and English (business level)

Desired:

• Specific/Additional training in clinical genetics metabolomics

Experience and knowledge:

Required:

• At least 4 years of experience in genetics and genomics research.
• Handson experience with nextgeneration sequencing (NGS) wholegenome/exome sequencing or other genomic techniques.
• Use of statistical methods for association studies (e.g. GWAS polygenic risk scores).
• Experience with patientderived samples (blood bone marrow) and biomarker discovery.
• Familiarity with genetic disorders hereditary diseases and clinical applications of genetic testing (variant classification following ACMG guidelines)Experience in the design and writing of scientific papers in JCRindexed journals (at least 5 publications and 2 as lead author).

Desired:

• Experience analyzing largescale genetic datasets using bioinformatics tools (e.g. Python R Bioconductor GATK ANNOVAR).
• Application of AI/ML in variant classification genotypephenotype correlations or disease risk prediction.
• Ability to work with clinicians bioinformaticians and researchers in a multidisciplinary setting.

Main responsibilities and duties:

• Design and conduct experiments related to SCD genetics pathophysiology and treatment strategies.
• Generate and analyze large scale genomic metabolomic and proteomic data to study SCD mechanisms and identify biomarkers.
• Perform biostatistical analyses (e.g. GWAS gene expression profiling machine learning for genotypephenotype correlation).
• Investigate the role of genetic modifiers fetal hemoglobin (HbF) regulation and pharmacogenomics in SCD.
• Use ML models for genotypephenotype predictions such as:
  oDisease severity classification based on genomic and clinical features.
  oPredictive modeling for patient responses to treatments (e.g. hydroxyurea).
  oDeep learning approaches for feature extraction from genomic and metabolomic datasets.
• Coordination of national and international SCD research group
• Design and writing of scientific articles.
• Training activities and codirection of degree masters and PhD students
• Support in the development of new project applications.
• Participation in scientific divulgation activities.

Labour conditions:

• Fulltime position: 40h/week.
• Starting date: immediate
• Gross annual salary: Remuneration will depend on experience and skills. Salary ranges are consistent with our Collective Agreement pay scale.
• Contract: Technical and scientific activities contract linked to the project activities

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.