Actualités - Aktuell

Symposium on enamel Anomalies: The photo Gallery

On the 8th of December, more than 80 people participated to the symposium on enamel anomalies organized by RARENET and O-Rares at the Dental Faculty of the University of Strasbourg. The main goal of that symposium was to inform practitioners on advances in research and care of patients in this field. All day long, French and international speakers shared their knowledge on those rare diseases. You will find here pictures that will make you to re-experience this very instructive day.

Photo Credits:

Gérard Brauer

François Stockart

13 December 2017|Events|

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.

27 November 2017|Team|

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. »

21 November 2017|Team|

Symposium on Enamel Anomalies

On Friday, December 8, RARENET organizes a symposium on enamel anomalies at the Faculty of Dentistry in Strasbourg. The event features French and international speakers, and all speeches will be simultaneously translated to French and English. The symposium starts at 9 am and finishes at 5:30 pm.

You can find the program of the symposium here.

To sign up, please fill in this document and send it to Christelle Olivès before December 1:

17 November 2017|Events|

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


26 October 2017|Events|

Phenotyping of autoreactive B cells with labeled nucleosomes in 56R transgenic mice

2017 / English – Scientific Reports 2017; 7: 13232.


Gies V, Bouis D, Martin M, Pasquali JL, Martin T, Korganow AS, Soulas-Sprauel P.


“The phenotypic characterization of self-reactive B cells producing autoantibodies is one of the challenges to get further insight in the physiopathology of autoimmune diseases. We took advantage of our previously developed flow cytometry method, using labeled nucleosomes, prominent autoantigens in systemic lupus erythematosus, to analyze the phenotype of self-reactive B cells in the anti-DNA B6.56R mouse model. We showed that splenic anti-nucleosome B cells express mostly kappa light chains and harbor a marginal zone phenotype. Moreover, these autoreactive B cells fail to acquire a germinal center phenotype and are less abundant in the transitional T3 compartment. In conclusion, the direct detection of autoreactive B cells helped determine their phenotypic characteristics and provided a more direct insight into the B cell tolerance process in B6.56R mice. This method constitutes an interesting new tool to study the mechanisms of B cell tolerance breakdown in B6.56R mice crossed with autoimmune prone models.”

Read the article:

16 October 2017|Scientific articles|

Neutropenia in patients with common variable immunodeficiency: a rare event associated with severe outcome

2017 / English – Journal of Clinical Immunology 2017; 37: 715-726


Guffroy A, Mourot-Cottet R, Gérard L, Gies V, Lagresle C, Pouliet A, Nitschké P, Hanein S, Bienvenu B, Chanet V, Donadieu J, Gardembas M, Karmochkine M, Nove-Josserand R, Martin T, Poindron V, Soulas-Sprauel P, Rieux-Laucat F, Fieschi C, Oksenhendler E, André-Schmutz I, Korganow AS; DEFI study group.



Common variable immunodeficiency (CVID) is characterized by infections and hypogammaglobulinemia. Neutropenia is rare during CVID.


The French DEFI study enrolled patients with primary hypogammaglobulinemia. Patients with CVID and neutropenia were retrospectively analyzed.


Among 473 patients with CVID, 16 patients displayed neutropenia (lowest count [0-1400]*106/L). Sex ratio (M/F) was 10/6. Five patients died during the follow-up (11 years) with an increased percentage of deaths compared to the whole DEFI group (31.3 vs 3.4%, P < 0.05). Neutropenia was diagnosed for 10 patients before 22 years old. The most frequent symptoms, except infections, were autoimmune cytopenia, i.e., thrombopenia or anemia (11/16). Ten patients were affected with lymphoproliferative diseases. Two patients were in the infection only group and the others belonged to one or several other CVID groups. The median level of IgG was 2.6 g/L [0.35-4.4]. Most patients presented increased numbers of CD21low CD38low B cell, as already described in CVID autoimmune cytopenia group. Neutropenia was considered autoimmune in 11 cases. NGS for 52 genes of interest was performed on 8 patients. No deleterious mutations were found in LRBA, CTLA4, and PIK3. More than one potentially damaging variant in other genes associated with CVID were present in most patients arguing for a multigene process.


Neutropenia is generally associated with another cytopenia and presumably of autoimmune origin during CVID. In the DEFI study, neutropenia is coupled with more severe clinical outcomes. It appears as an “alarm bell” considering patients’ presentation and the high rate of deaths. Whole exome sequencing diagnosis should improve management.”

Read the article:

1 October 2017|Scientific articles|

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.




21 September 2017|Uncategorized|

RARENET will participate to the Science Days in Europa-Park!

Science Days

“French-German smile”:

Learn about rare diseases and the work done by our hospitals/research centres by participating to fun and instructive activities!



The 19th, 20th and 21st of October

From 9am to 5pm



Stand RARENET in the Arena

Europa-Park-Straße 2

77977 Rust


6 September 2017|Events|

Prothèse implantoportée en denture mixte chez l’adolescent atteint de maladies rares

2017 / Français – Réalités Cliniques 2017. Vol. 28, n°3 : pp.221-230


F. Clauss, JC. Dahlet, V. Vogt, T. Siebert, A. Bloch-Zupan, F. Obry, MC. Manière


“Les oligodonties correspondent à une anomalie du développement dentaire caractérisée par une importante variabilité clinique et doivent faire l’objet d’une prise en charge multi-disciplinaire. La mise en place précoce d’implants symphysaires sous-prothétiques en cours de croissance, à partir de l’âge de 6 ans, est indiquée et a fait l’objet d’un avis favorable de la Haute Autorité de Santé en 2006. Les principaux paramètres diagnostiques à considérer sont la sévérité du phénotype, la distribution des agénésies dentaires, la maturité squelettique et les caractéristiques morphologiques et dimensionnelles du site implantaire symphysaire. Le bilan pré-implantaire intègre un examen clinique et d’imagerie sectionnelle de type CBCT, avec reconstructions tridimensionnelles et simulation implantaire assistée par ordinateur. Les spécificités chirurgicales sont une intervention sur un os en cours de croissance et caractérisé par une hypotrophie osseuse et, dans certains cas, une hypercorticalisation, à l’origine de difficultés chirurgicales. Les mini-implants peuvent être utilisés dans les cas d’hypotrophie osseuse marquée. Un suivi rigoureux de l’ostéointegration est nécessaire, car des complications comme un enfouissement implantaire ou une modification de l’axe implantaire liée à la croissance ont été observées. Le protocole prothétique consiste en réalisation de prothèse adjointe mandibulaire implanto-stabilisée jusqu’à la fin de la croissance, évoluant en prothèse fixée supra-implantaire dès la maturité squelettique atteinte, après la mise en place d’implants supplémentaires en secteurs latéro-postérieurs mandibulaires et d’implants maxillaires.”

1 September 2017|Scientific articles|