Let’s draw the Future!

RARENET Project improvements

The event “Let’s draw the future!” dedicated to the improvements of the project RARENET, took place at Strasbourg University Faculty of Dental Surgery, July 5th and 6th, 2018. It was divided into three main times:

  • A first symposium dedicated to neural crests, which was organised in partnership with research group Crest Net. This net concentrates on neural crests studies. Conferences, poster exhibitions, and scientific discussions were on this symposium agenda.
  • A second symposium concentrated on the Lupus Biobank projects. It took place July 6th. On this occasion, French, German, and Austrian researchers dedicated their time to these projects presentations.
  • Finally, July 5th evenings was devoted to a playful presentation of RARENET improvements. Project partners, symposium participants, but also members of Strasbourg University, of the INTERREG programme, of the Eurometropolis, as well as various practitioners, enriched this event with their attendance and active participation.

Note that, the illustrators Violaine Leroy and Nicolas Bottereau have, through drawing battles, greatly animated the last part of this RARENET event.


IMG_3583 IMG_3639 IMG_3632 IMG_3618 IMG_3609 IMG_3599 IMG_3594 IMG_3591Scientifique_allemand_NikolMigrationvirus_NikolSourire_NikolBankbio_NikolLepiege_NikolJournée_Maladies_Rares_NikolHello_NikolEuropapark_NikolDeviner_NikolDefense_immu_Nikol

photo credits:

Valentine Labouheure

Drawing credits:

Violaine Leroy

Nicolas Bottereau

Cleft Lip and Cleft Palate Day

“My child born with a cleft lip and palate” took place June 14th 2018. This information day was fully dedicated to cleft lip and cleft palate, a rare disease that results in a lip and palate deformity.

The event was organised by professors Bruno Grollemund and Delphine Wagner, both orthodontists and professors at the Faculty of Dental Surgery of the University of Strasbourg. It reassembled more than 90 participants.

Through various interdisciplinary presentations, and more informal discussions, this symposium has enabled students, orthodontists, dental surgeons, and other medical professionals, to understand the possible evolution of this disease, and to weight the importance of early medical care.


Dr Grollemund

Rare Disease Day 2018

The 11th edition of Rare Disease Day was taking place on February 28, 2018. On this occasion, RARENET, SENSGENE and their partners were animating an information stand in the commercial centre Rivetoile in Strasbourg. The program included: painting one’s face with the colours of the day, a quiz on rare diseases, individualised pictures and workshops to learn more about rare diseases. Many people took part to the activities and could ask their questions to scientists and members of patients’ support groups. At 2pm, everyone came together for a group picture in order to show their support for research and the fight against rare diseases.

The media coverage of the event (in French):

  • France 3 Alsace :

12/13 of February 28

19/20 of February 28


Photo Credits:

Heidy B-Photo

Claire Edel

Christelle Olivès

François Stockart

Portrait: Dr. Sophie Jung

Sophie EN

Dr. Sophie Jung est spécialiste en Odontologie et Immunologie. Après une formation en Chirurgie Dentaire à l’université de Strasbourg, elle effectue une thèse de Sciences sur le lien entre infections et maladies auto-immunes, puis un post-doctorat sur les déficits immunitaires à Fribourg-en-Brisgau. Elle enseigne aujourd’hui à la Faculté de Chirurgie Dentaire de l’Université de Strasbourg et effectue ses activités de recherche à l’Institut de Biologie Moléculaire et Cellulaire (IBMC) de Strasbourg (CNRS UPR 3572). Elle prend également en charge des patients atteints de maladies rares, en particulier de sclérodermie systémique, aux Hôpitaux Universitaires de Strasbourg.

Que pensez-vous du projet RARENET ?

« C’est un projet qui m’apporte beaucoup, dans le sens où il me permet d’avoir un cadre mieux défini pour mon parcours et mes recherches. Certaines personnes ne comprennent pas toujours le lien qu’il peut exister entre les maladies auto-immunes et les maladies à expression bucco-dentaire. Avec RARENET, cependant, ce lien est légitimé par un projet commun. Le projet est aussi intéressant car il permet la coopération avec des enseignants et chercheurs en Allemagne. Finalement, RARENET m’offre la possibilité de passer plus de temps avec mes patients sclérodermiques. »

Interview: Marzena Kawczynski


Marzena EN

Marzena Kawczynski is clinical research assistant for RARENET. She is responsible for the recruitment of patients for the collection of biological samples in odontology and supports physicians for the inclusion of those patients. Our Interreg volunteer François Stockart met her and asked her a few questions on her job and her experience with patients suffering from rare diseases.

François Stockart (FS): Hello Marzena. You have been working at the University of Strasbourg for almost five years now, first for the Interreg IV project on oro-dental rare diseases and then for RARENET. What did you do before coming to work here?

Marzena Kawczynski (MK): Hello François. First I studied biology in Poland during five years and worked there for several years. After that I came to France, where for some time I could not find a job that matched my studies and interests. In Poland, study programs are not as specialized as here. With a degree in biology, you can do a lot: teach in high school, work in a lab, etc. In France, however, I quickly realized that to find a job in biology it was necessary to do additional training .Luckily, I could take a complementary formation to become clinical research assistant when I started working on the project on oro-dental rare diseases at the University of Strasbourg. And now I am doing the same job for RARENET.

FS: So what does your job consist in precisely?

MZ: I support physicians when they are including new patients in the collection of biological samples. In practice, this means that in Strasbourg I give them the consent forms, check that everything has been completed, that the sampling kits contain enough saliva, etc. I do a similar job with physicians who include patients in other hospitals in France: I explain them the procedure they have to follow to include patients in the collection and send them sampling kits, consent forms, etc. I also remain at their disposal for questions by e-mail or telephone and make sure that everything has been done correctly when we receive the material. Sometimes, one piece of information or one signature is missing. I then contact the physician and we try to correct the mistake.

FS: Those are many different missions! What does a typical day look like for you then?

MZ: I do not really have any regular days; one does not resemble the next. Sometimes I just stay at my desk doing administrative work or discussing about the collection of biological samples with my colleagues from the lab. Then I’ll suddenly get a call from the hospital telling me I have to come and help a physician include a patient in the collection. I am also present on the events RARENET participates to, like Rare Disease Day or the Fête de la Science (a science festival in Strasbourg). It is something I really like about my job: There is no routine; I never can be sure what one day will be like!

FS: In your job, do you have many occasions to get in contact with patients suffering from rare diseases?

MK: Yes. Every time I go to the hospital in order to provide support to physicians and collect consent forms, I am in direct contact with the patients. Most of them are children. We sometimes talk about their problems and sufferings. Some of them suffer from syndromic diseases, which means that not only their teeth which are affected. It is sometimes hard to know how to approach certain patients, what one can say without harming them. Also, many children suffer from the aesthetic consequences of their diseases. They are regularly mocked by their classmates, who for example do not understand that an unusual teeth color can be caused by enamel anomalies.

FS: What is most striking to you about the patients that you are meeting?

MK: One thing that I really find impressive is how some parents manage their children’s disease. They are ready to do so much in order to find ways for their children to live better. And that can be extremely complicated with rare diseases. Some parents visit several departments only to receive the answer: “we don’t know what (s)he has”. And after that, they go to yet another specialist, without any guarantee of finding a solution. This process can last years. Even when the doctors find something, they can often not say much about it, as with rare diseases it is always complicated to make a precise diagnostic. But in spite of all that, I see many parents who deal with those complicated situations in a very remarkable way.

FS: Do you think that RARENET can have an impact on the life quality of patients affected by rare diseases? Can it bring an important change for some people?

MK: Yes, of course. Many oro-dental diseases are caused by genetic factors. The research made in the framework of the project can enable a better understanding of those factors, which will be useful to diagnose patients in the future. And our genetic analyses can have more concrete consequences for certain patients too. When we look for a mutation that corresponds to the clinical diagnosis of a rare disease, we screen approximately 600 genes linked to oro-dental diseases. Some of those genes, when they are mutated, can cause syndromes that have remained undetected by physicians and of which oro-dental symptoms are only the tip of the iceberg. It happens that we detect such mutation during our genetic analyses. In all cases we send the results of our research to a geneticist, who conducts a second analysis and collects information about the patient and their family before formulating conclusions. So our first genetic analysis can ultimately give patients more knowledge about their health than one would expect.

FS: You are in contact with our German partners in order to organize the recruitment and identification of patients there. Do you think that cross-border cooperation is a big asset for the project?

MK: Yes, definitely. RARENET creates a legal framework for the exchange of samples between France and Germany, which gives us access to more data. Every sample is important: The bigger the patients’ cohort, the more likely we are to find two similar cases. The cooperation with German hospitals might be decisive for our understanding of some diseases and might therefore help improve the care provided to patients.

FS: In a bit more than a year, the project RARENET will end. If you are given the opportunity to continue working on a similar project at the University of Strasbourg, will you do it?

MK: If I would be working on oro-dental rare diseases, most probably. I really like my job. Since five years I am here, I have never been bored: There is always something new coming up!

To learn more about RARENET, visit our Website or Facebook page.

Portrait: Prof. Pauline Soulas-Sprauel


Pauline EN

Pr. Pauline Soulas-Sprauel est enseignant-chercheur en Immunologie. Elle a suivi des études en Pharmacie avant d’effectuer une thèse de Sciences en Immunologie sur la rupture de tolérance lymphocytaire B. Elle travaille maintenant à l’Institut de Biologie Moléculaire et Cellulaire (IBMC) de Strasbourg (CNRS UPR 3572). En janvier 2018, elle deviendra responsable de l’équipe de recherche intitulé Homéostasie lymphocytaire & autoimmunité, pour le moment dirigée par Pr. Thierry Martin. Cette équipe participe au projet RARENET dans le cadre de sa recherche au niveau des maladies rares auto-immunes.

Que pensez-vous du projet RARENET ?

« RARENET permet une réelle avancée dans nos recherches. Sans l’existence du projet franco-allemand, nous n’aurions pas la possibilité de faire certaines expériences ou devrions les retarder. Cela nous permet donc d’avancer plus rapidement et de publier des résultats. Le projet a donc un impact réel sur les progrès faits par notre laboratoire dans la recherche autour des maladies rares auto-immunes. »

RARENET participated to the Science Days 2017!

The Science Days were taking place from the 19th to the 21st of October 2017 in Europa-Park in Germany. Children and adults could learn about RARENET through play activities. With “French-German Smile” we offered visitors the opportunity to immerse themselves in the world of rare diseases and of the work made in the project’s hospitals/research centers.

During three days several hundred people visited the RARENET stand and learned about rare diseases. You can find here a few pictures that will allow you to re-experience this incredible event.

Photo Credits:

Heidy Bloch Photo

François Stockart

Christelle Olivès


An INTERREG volunteer at RARENET!



A few months ago, just after I finished my Bachelors, I decided I wanted to find a new challenge. I wanted a project that would be both social and enriching. So when I heard about the European Solidarity Corps, a new EU program whose goal is to put into contact volunteering candidates and solidarity organizations all over Europe, I did not have to think twice before applying. I was later contacted by Interreg Volunteer Youth (IVY), a new initiative that mediates contacts between volunteering candidates and cross-border, transnational and interregional associations. They asked me if I was interested in a volunteering project for RARENET. When I learned that it was a French-German project aimed at improving the lives of patients suffering from rare diseases, I directly knew I was!

During the coming six months, I will assist RARENET’s communication and represent the project at several events. My main objective is the organization of an event on Rare Disease Day 2018, which will take place on the 28th of February. I am looking forward to spending several months serving a European organization and patients who often are disadvantaged. I hope I will have an enriching experience and will be able to bring a valuable contribution.




Photos de la Fête de la Science 2016

RARENET était présent à la médiathèque Malraux de Strasbourg du 13 au 15 octobre pour la Fête de la Science et a accueilli près de 300 visiteurs !

Symposium Décembre 2016

Un premier symposium à Strasbourg en décembre

Il reste encore quelques jours pour s’inscrire au premier symposium consacré aux maladies auto-immunes rares et vascularites et aux agénésies dentaires multiples en présence de conférenciers internationaux. Il se déroulera les 7 et 8 décembre 2016 dans les locaux de la Faculté de Chirurgie Dentaire de l’Université de Strasbourg.

Cette rencontre est aussi l’occasion de fêter les 10 ans du Centre de référence pour les Manifestations Odontologiques des Maladies Rares de Strasbourg, coordonné par le Professeur Marie-Cécile Manière et le lancement officiel du projet RARENET.

RARENET innove en proposant aux enseignants, chercheurs et praticiens, médecins et chirurgiens-dentistes des temps communs d’échanges autour des manifestations bucco-dentaires des maladies rares et des maladies auto-immunes rares

Renseignements et inscriptions : christelle.olives@unistra.fr – + 33(0)3 68 85 39 19