User:Etchevers/Notebook/Conference notes/2008/12/23

Conference and seminar notes

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Notes for group meeting Dec 23rd at Necker and meeting with Alexis, Celia and Sabine Meeting with G. Levi by phone with Stanislas: Goldenhar, role for Dlx5/6, completer Jeanne suggests that S. Manœuvrier has a family labelled as such with a deletion that takes out Dlx5/6 – other PSF MIM 183700 don’t have deletions but perhaps by FISH with smaller deletions? (or other CNV via SNPs or CGH) Fontaine was former boss of Manoevrier. Dysostoses mandibulofaciale + fente Robin AD + ectrodactyly + dysplasie pavillon de l’oreille. DSS1 is also in region even better for ectrodactyly. EDN1 master gene for proximal arch, DLX5/6 escape later to allow expn in distal arch (cf PNAS paper) Claude broke his shoulder … E-RARE participation with Schaffer – for dysganglionoses digestives, POI, etc. everything but HSCR (Jeanne thinks they should put it in) implicate transcriptome – w/o citing Claude. Tania FP7 demande en cours, coordinator in Holland 19 participants. Will ask for a postdoc and ITA (if WP accepted) and 18K fonctionnement each one. Had no females nor geneticiens. Sophie Saunier also. Asked for puce to sequence all kinesins and all other ciliary genes possible. Also E-RARE try again Joubert-Meckel. Cf. “Genetics department – INSERM U781” (so we will make 3 requests to same E-RARE mechanism). Tania got criticisms back – apparently the functional studies were too disproportionate relative to the clinical aspect as perceived by the reviewers (even though it is underway) and did not distinguish specificities of each team. Esprit du projet “maladies rares – échelle européenne pour constituer le cohorte nécessaire”. So bring in the German group all the same. Jeanne ERC young investigator – with help for budget with Charlotte Sumida’s former assistant. ANR blanc fondamentale with Sophie Creuzet and Elisabeth Dupin + Genopath end fevrier new deadlines. Me: appel blanc with Mehlen, NLD/Elisabeth and Patrick – debut-mi fevrier. Ptc and Ret – cf SNPs eventually, not so much HSCR a mettre en avant. Agence Biomedecine DPN-prenatal perhaps money for Fowler Tania asked a little for help from Ferechte for writing. Extension to postnatal. If find gene translates into DPI. Contrepartie viable postnatal. AERES: Tested presentations for that in a “pilot” trial run with Agnes and Laurence as test drivers. Reflect on how to weight previous accomplishments and – 35 min de presentation and 25 discussion (or 30/30) for our group. Stan fera presentation mais passer la main aux autres thematiques avec des diapos prepares. 4 diaps d’intro : organigramme, financements et collaborations, reseaux cliniques Last slide – valorisation pour malades (diagnostique surtout). Cf. Laurence – clinique, then approach CGH, approach families, fonctionnel Drosophila. For us – too many methods, too detailed. Neurocristopathies and Pathologies foetales gene candidate generation methodologies. Assumer la dispersion des sujets dans présentation avec structure sur les faits accomplies (marquants) du passé. 2-3 diapos détaillés sur les 4-6 projets. Anna dit qu’il ne faut pas confondre projet et méthodes. F. Clerge selon Anne-Sophie a presente son equipe en ce qui était « voila ce qu’on fait ici mais nulle part ailleurs » - collection de patients, foetopath, embryons humains…toutes les originalités à ressortir. Our group is going to be #1 so will go up first. 1, 3, 4, 9, 5 groups up for oral in first day, “plateformes” then the four remaining (including Genatlas) and 3 mini-meetings the second day – I. Perrault presents CRs, Christelles for students and postdocs, how many, what do they do…, Anna for ITAs. Without the director. Will be held in our library. Claudine’s group is not in future projects. Will need to present past as well? Jeanne et budget FRM: 80K avril 2008 – avril 2009 (30K foncti. Equip 8K, deplace 3K, 45K passeront peut-etre en fonctionnement). Some of 42K already engaged has been transferred over to 8K of equipement and 7K in deplacement). 30+45+3+8 = 86K 2nd year = 30+45+3 3rd year = 30+45+3 Claude and Stan went over to Curie for the 45K in puces debt. Collaboration when it was JP Thiery became a paying service with Curie’s new director for platform. Accord is pay for the NCC puces and the rest is collaboration if put a few authors in Claude’s paper. Reduced to 15K. Pay during 2009 probably on the 45K of FRM (hope!!!). ANR on Air France for future voyages (but via INSERM). HSCR and E-RARE HSCR, E-RARE Cranirare (Germans and Turks contrib. via Pierre-Robin). Each has a deplacement of about 2500-3000. Janvier 2010 Strasbourg Assises. F disease – first families, 3 regions, second consang to 2 regions, still 17Mb but same SNPs 269 in a 4Mb region so starting of course with that. Villages of 2 families are 12 km distant. Tania brought up 12 non-CHD7 mutated patients to send to Lille. Meeting with Alexis, Celia and Sabine Hypothesis – teratome due to residual tailbud cells. There are triple + NANOG, POU5F1 and SOX2+ cells, while at C22 almost no SOX2 immuno + cells remaining in caudal pole except in ventricular zone of SC or possibly in caudal mesenchyme – needs to be redone. Test the tailbuds in the blastema-like region, for expression of these genes (ISH or immuno). For colocalization only immuno will do, by confocal. But is that necessary if do adjacent sections? (can colocalize 2 colors as well). Alexis reports IHC on C22 and SOX2 et SOX9 and IgG. There are other teratomas in mediastin, cerveau or gonades – always on midline. But perhaps multiple cell sources even if similar localizations? Schneider imprinting on germinal tumor malignant – not all same imprinted – distinguish gonadal from non-gonadal. Celia would like to know if there is any residual sac vitellin cells expressing SOX2 NANOG and OCT3/4. Cf Joubert who has studied this investment of germinal cells in the gonads. Sabine says not often teratomas so if there is one can you go right into the in vivo – she has the niveau I for rodents. 9th floor Faculte can have the nude mice – cages filters or “armoire isolateur”. Study dissociation protocol vis a vis d’autres tumours solides. Injection en sous-cutanee. Which part of teratoma will have S/N/O+ cells that also have ABCG2 or SSEA4 to sort so as to have cells to inject into the nude mice? Where in the tumor are the stem cells? There is a semantics problem as to whether a stem cell is a cancer stem cell or an embryonic stem cell. Choriocarcinoma or malignant germinal SC localization has sac vitellin component. Alpha fetoprotein is part of these – TSC sometimes + or – but mostly – when midline TSC. A question is why is there a SV, alpha feto+ component in germinal rather than TSC? Are any of them tested for alpha-FP? Chimiotherapie makes the SV part differentiate. Tumeurs germinales malignes has access to series of 60 tumors – separated into primitively malignant which onset around or > 6 months, versus neonatal TSC “benign” of which 10% of these will recidive. Platinum salts helps them to evolve. (“6-platine”) Alpha fetoprotein is quite high until 1 year of age. Correlation entre phenotype histologique et phenotype (et devenir) clinique. Cette partie sera nouvelle. Celia resumes – persistence of pluripotent cells in TSC with cartographie and percentage ? Malignant >6 mo are endopelvien tumors. The diagnosis in antenatal was not making it possible to see but Sabine thinks that probably same part as the 10% of recidive for the extrapelvien ones – those that are stuck to the coccyx (not to the rectum). Dogma about removing the coccyx also. Sabine looked at this and saw if did not remove, 50-60% recidive. But no one knows how much to remove. In newborn this is not ossified. Sabine finds the pre-coccyx concave region of the sacrum the “best” to remove. Fetal teratomas? 2 Currarinos. With hydronephrosis secondary to the urether being blocked by the massive tumor. Do obstetricians interrupt because fistulas AV high debit that lead to cardiac insufficiency – discussed in staff jeudi après-midi – Sabine will call A Benachi for prospective patients if souffrance prenatale and also those that will be operated in postnatal Celia gives examples of recovering frozen material from Curie – 1 or 2 cryomolds per patients. Heather 09:42, 5 January 2009 (EST):