Nosology and Rare Diseases
Research subjects of this group
- Gaucher Disease :
Prof J Stirnemann is co-Head of the French Gaucher Disease Registry with 18 original publications about this cohort of patients. He participates in French national projects and supervises the statistical analyses of this cohort, being responsible of the data collected.
- Sickle cell Disease :
We have initiated a randomized controlled trial for the management of Sickle cell vaso-occlusvie crisis using hyperbaric oxygen therapy. the feasibility and safety pilot study ( ) has obtained funding. Prof J Stirnemann is the principal investigator (PI) for this trial, in close collaboration with Prof J Serratrice.
- Case-reports in Internal Medicine:
Case Reports are an integral part of evidence based medicine (EBM) and the best way of advancing knowledge by improving medical nosology, and often the first step in clinical research.
To give few examples of our involvement in medical nosology research, we were able to once again describe the cardiovascular involvement of Erdheim Chester disease, to describe the evolution of pathogenesis schemes of large and small vessel vasculitides (in particular ANCA vasculitides, cryoglobulinemia and Cannabis arteritis) or to describe the occurrence of rare complications in the course of the SARS-CoV-2 infection. Case reports are coordinated by Prof J Serratrice in close collaboration with Prof J Stirnemann and Dr M Coen, PD.
- SIDD consultation :
In this specific context we provide a clinical translation through the “SIDD” for “Symptômes Inexpliqués, Diagnostics Difficiles” – “unexplained symptoms – difficult diagnoses” consultation, which is an integral part of the reference center for rare disesases “Portail Romand des Maladies Rares”. This consultation is dedicated to patients with undiagnosed persisting symptoms or with frequent pathologies of unusual presentation, or rare diseases. It is the starting point for sudent training and our case reports and cases series. Integrative medicine treatment is often offered to these patients with complex follow-up and clinical research in this latter field is starting under the supervision of Dr M Coen, PD.
Bibliometric data according to the Google Scholar (reference source for UNIGE)
A common group for the division of IM has been created, , covering all three research groups, including the present one. As members of this “frequent conditions in IM” can also collaborate in the two other research group of IM this common SMIG group allows a direct access to each individual investigator
Main pertinent publications
1- Int J Mol Sci. 2020 Feb 13;21(4):1247.
2- Orphanet J Rare Dis. 2012 Oct 9;7:77.
3- Int J Mol Sci. 2017 Feb 17;18(2):441.
4- Bobot M, Coen M, Simon C, Daniel L, Habib G, Serratrice J. DRESS syndrome with thrombotic microangiopathy revealing a Noonan syndrome: Case report. Medicine (Baltimore). 2018
5- Coen M, Jeanson G, Alejandro Culebras Almeida L, Hübers A, Stierlin F, Najjar I, Ongaro M, Moulin K, Makrygianni M, Leemann B, Kronig I, Bertrand J, Reny JL, Schibler M, Serratrice J. Brain Behav Immun. 2020