Rare Diseases at the Omics era: Current tools for frequent challenges

Sequencing methods mark a significant advancement in the study of rare diseases. Integrating data from various sources is becoming crucial for enhancing molecular analysis and diagnosis.

The goal of the CIVIS summer school is to offer high-quality, interdisciplinary courses that address these needs.

• Fundamental notions in medical genetics
• iPSC to rare diseases
• Biomedical ethics
• R programming
• Sequencing technologies
• Variants analysis
• scRNA-seq
• Spatial transcriptomics

The students will improve their knowledge and their skills in rare disease (fundamental notions medical genetics, iPSC to rare diseases, biomedical ethics, etc), cross-cutting skills (R programming, sequencing technologies, variant analysis, scRNA-seq, spatial transcriptomics etc.) and soft skills (English, teamwork, oral presentation, analytical and synthesis skills, build a professional network etc).

The physical mobility part will be running from 23 to 27 June 2025 in Marseille, France. It will follow on from the virtual part and will alternate between plenary sessions and practical workshops.

• Day 1: Exploring Rare Diseases through Medical Genetics and Genomic Analysis
• Day 2: Single-Cell Insights into Normal and Pathological Development
• Day 3: Mapping the Transcriptome: Unveiling the Power of Spatial Transcriptomics
• Day 4: Unraveling the Role Epigenetics and Gene Regulation in Rare Diseases
• Day 5: iPSC Technologies and their transformative impact on rare disease research – Social event

The online sessions will take place between 3 March - 30 April 2025. To accommodate your schedule, the courses are offered as self-paced learning modules, complemented by regular online sessions and personalised support from our expert team of instructors.

This part will be about gaining knowledge and fundamentals of R programming by diving into an engaging, interactive learning experience.

The assessment for this programme will consist of:

• Virtual part: multiple-choice questions (MCQ) and dataset analysis.
• Physical part: multiple-choice questions (MCQ).
• active participation in both parts (virtual and physical)

Motivation Letter

CV

Other

The evaluation will assess the applicant’s background and experience in molecular and cellular biology, including training courses and internships. It will also consider the alignment of the research project and/ or career goals with the summer school’s focus, as well as the applicant’s proficiency in English.

Aix-Marseille Université:

• Denis Puthier, researcher TAGC laboratory, full Professor at the Polytech school of engineering, co-head of the TGML Genomics platform  and deputy director for education of the Marseille Rare Disease’s institute
• Thierry Brue, MMG laboratory, Marseille Hospitals, Director of the Marseille Rare Diseases Institute
• Frédérique Magdinier, MMG laboratory (director of the MMG laboratory and deputy director of research of the Marseille Rare Diseases’ institute)
• Aitor Gonzalez, TAGC laboratory, Director of Master degree in Bioinformatics (Marseille)
• Heather Etchevers, MMG laboratory
• Fabienne Lescroart, MMG laboratory
• Sandrine Marquet, TAGC laboratory

University of Salzburg:

• Iris Gratz, Depart. of Biosciences and Medical Biology
• Angelika Lahnsteiner, Depart. of Biosciences and Medical Biology
• Aarathy Geetha, Depart. of Biosciences and Medical Biology

University of Bucharest:

• Beatrice Radu, Faculty of Biology, Department of Anatomy, Animal Physiology and Biophysics
• Bogdan Amuzescu, Dept Biophysics & Physiology, Faculty of Biology