Genetic Data Analyst

Vacant position for a Genetic Data Analyst focused on analysis of multi-OMICs, functional and clinical data for personalized medicine in sickle cell disease within the group “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 sickle-shaped, 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 aren’t universally effective.

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

Organ Damage & Early Mortality - Long-term complications affect survival and quality of life.

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

**Education and qualifications**:
**Required**:

- Bachelor’s degree in Biological Sciences, Biomedicine or related fields.
- Master’s degree in Genetics.
- Fluency in Spanish and English (business level).

**Desired**:

- Specific/Additional training in clinical genetics, metabolomics.

***:
**Experience and knowledge**:
**Required**:

- At least 1 year of experience in genetics and genomics research.
- Hands-on experience with next-generation sequencing (NGS), whole-genome/exome sequencing, or other genomic techniques.

**Desired**:

- Experience analyzing large-scale genetic datasets using bioinformatics tools (e.g., Python, R, Bioconductor, GATK, ANNOVAR).
- Use of statistical methods for association studies (e.g., GWAS, polygenic risk scores).
- Application of AI/ML in variant classification, genotype-phenotype correlations, or disease risk prediction.
- Ability to work with clinicians, bioinformaticians, and researchers in a multidisciplinary setting.
- Experience with patient-derived samples (e.g. blood, bone marrow) and biomarker discovery.
- Experience in the design and writing of scientific papers in JCR-indexed journals.

**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 genotype-phenotype correlation).
- Investigate the role of genetic modifiers, fetal hemoglobin (HbF) regulation, and pharmacogenomics in SCD.
- Use ML models for genotype-phenotype predictions, such as:

- Disease severity classification based on genomic and clinical features.
- Predictive modeling for patient responses to treatments (e.g., hydroxyurea).
- Deep learning approaches for feature extraction from genomic and metabolomic datasets.
- Design and writing of scientific articles.
- Participation in scientific divulgation activities.

**Labour conditions**:

- Full-time 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 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: 22-05-2025**
- 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 org