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

Discover how sequencing methods and multi-omics approaches can be used to describe rare diseases from a molecular point of view and contribute to the diagnosis and management of patients

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CIVIS focus area
Health
Open to
  • Bachelor's
  • Master's
  • PhD candidates/ students
Field of studies
  • Medicine and Health
Type
  • Blended Intensive Programmes (BIP)
Course dates
3 March - 27 June 2025

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.

Main topics addressed

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

Learning outcomes

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).

Dates: 3 March - 27 June 2025 Total workload: 75 hours
Format: Blended ECTS: 3*
Location: Marseille, France Language: English (B2)
Contact: denis.puthier@univ-amu.fr  

*Recognition of ECTS depends on your home university.

Physical mobility

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

Virtual part

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.

All you have to do is master the fundamentals of R programming and dive into an engaging, interactive learning experience.

Requirements

This course is open to Bachelor's, Master's and PhD's students at CIVIS member universities, with knowledge in molecular and cellular biology.

Also, the participants should have:

  • excellent English skills (B2),
  • data analysis skills,
  • medical genetics and R programming knowledge,
  • teamwork spirit,
  • oral presentation skills,
  • single cell data analysis skills,
  • spatial transcriptomics data analysis skills. 

Letters of recommendation are welcome.

NB: Visiting Students - Erasmus Funding Eligibility

To be eligible for your selected CIVIS programme, you must be a fully enrolled student at your CIVIS home university at the time you will be undertaking the programme. Click here to learn more about the eligibility criteria.

Students from CIVIS’ strategic partner universities in Africa cannot apply for participation in this course.

Application process

Send your application by filling in the online application form by 31 October 2024, including:

  • CV
  • Motivation letter
  • Letter of recommendation

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.

Apply now

Assessment

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)

Blended Intensive Programme

This CIVIS course is a Blended Intensive Programme (BIP): a new format of Erasmus+ mobility which combines online teaching with a short trip to another campus to learn alongside students and professors across Europe. Click here to learn more about CIVIS BIPs.

GDPR Consent

The CIVIS alliance and its member universities will treat the information you provide with respect. Please refer to our privacy policy for more information on our privacy practices. By applying to this course you agree that we may process your information in accordance with these terms.

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:

  • 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