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ABCR Advanced Biology Course on Rare diseases

PNG - 2.5 Mo
Poster of ABCR Course

Master in Life Sciences, ENS
BIO-M2-ABCR | Advanced Biology Course on Rare diseases
Year and Semester : M2 | S1
Where : Collège de France | 11, place Marcelin Berthelot 75005 Paris
Duration : 30 hours
First and last day of class : January 9th-13th, 2023
Hours : 9:30-12:30 | 13:30-16:30
Maximum class size : 50 students

This course is open to external students.
Contact : Dominique Bluteau


Dominique.Bluteau, EPHE, Université Paris Sciences et Lettres
Dominique Stoppa-Lyonnet, Université de Paris-Cité, Institut Curie
Anahi Molla-Herman, Collège de France
Terence Strick, ENS, Université Paris Sciences et Lettres


If a grade is required (validation of the course for a master degree), the evaluation will be based on an article presentation in one of the sessions.


Genetic Diseases | Cancer predisposition| Rare Cancers | Diagnosis and Therapy

Course Prerequisites

For each session, the speaker will provide a review to read beforehand, and do a brief introduction at the beginning with what is needed to understand his/her lecture. Hence no prerequisite is required as long as the student is motivated enough by the topic to read the bibliography provided by the speakers before the sessions.

Course objectives and description

Aims : The objective of this course is to familiarize students/researchers with the definitions, the notions in genetics, and the diagnostic, ethical and medico-economic issues relevant to this class of disease. The course will demonstrate how a continuum of research, from basic to clinical and translational, allows scientists to answer questions related to human health by studying rare diseases, in particular genetic diseases with or without predisposition to cancer.
Themes : Rare diseases affect a limited number of persons, and it is this rarity that raises specific problems. While almost all genetic diseases are rare diseases, not all rare diseases are genetic. This term also includes very rare infectious diseases, auto-immune diseases, and rare cancers.
Organization : The speaker will give an introduction for non-specialists, followed by a 40 min-long conference-level presentation. The talk will be followed by a discussion session, around an article presentation by a student.


ECTS obtained for completion of this course may be applied to the degree requirements for the PSL Master in Life Sciences as well as the new PSL Graduate Program’s Minors. Students wishing to obtain ECTS will be assessed on the basis of an article presentation following one of the speakers. For PhD students the course can count towards completion of the training hours required by the Doctoral Programs (ED). In this case, since a grade is not required, evaluation will be based on assiduity (only one unjustified absence is accepted). PhD students will also have the opportunity to present a topic/speaker in one of the sessions.

Suggested readings in relation with the module content

Reading assignments will be given in advance of each session.

Application procedure

Please write an email to abcr_pgls chez , with these information :
Last name, first name, study program (PSL Life Sciences Master, other…), study year ( M1, M2, Doctoral candidate)
Do you need to be graded to receive ECTS for this course ?
In addition, provide a CV, a 1 page motivation letter.

Download the planning of ABCR Course