HUM-MOLGEN archive: DIAG : 5 messages + policy on human specimens requests

************************************************************** HUM-MOLGEN DIAGnostics/Clinical Research ************************************************************** This DIAG message contains 6 submessage(s): 1) blue rubber bleb nevus (Bean) syndrome 2) ovarian tumours and cytogenetic tecniques 3) Down syndrome on the net 4) Ectopia Lentis 5) Genomic Reagents Resource 6) POLICY ON HUMAN SPECIMEN REQUESTS - IMPORTANT ! Carlo Gambacorti MD, Editor, Human Molecular Genetics network Diagnostics/Clinical Research Section ************************************************************** ************************************************************** We have genetic linkage for a family that we feel has blue rubber bleb nevus (Be an) syndrome and are searching for other families to confirm this result. We are hoping to locate clinical associates who would be willing to ascertain and draw bloods from their families. We would check the linkage here in my lab. This would be on a collaborative basis, with joint authorship on any paper resulting from this work. Our large family shows a lod score of over 9.0 with the mo st closely linked marker. Thus we are confident of the linkage but would like to look at more families with a similar clinical phenotype. Please call Doug Marchuk, Dept of Genetics Duke University, Durham, NC 27710 phone 919 684-329 0 fax 919 684-2790, E-MAIL march004@mc.duke.edu ************************************************************** Dear collegues, we are studyng ovarian tumours with cytogenetic tecniques, and FISH with painting, yacs and cosmids probes. We are very interested in detailed protocols of PRINS using yacs and cosmids to get primers. In particular we would know the crucial steps of this procedure and the strategical approach in the choice of primers. best regards & thanks in advance Alberto Cominelli Agip S.P.A Via Emilia 1, S Donato Milanese (MI) phone number +2-520-62948 e-mail: comi@crs4.it,cominelli@agip.geis.com ************************************************************** Does anyone know where I can find information about Down Syndrome on the Net? Thanks. Denise Denise.Bauer@MAILPORT.DELTA-AIR.COM ************************************************************** I'm interested in finding out which labs are currently performing biochemical or molecular studies of fibrillin on patients with ectopia lentis without any systemic involvement. We are currently following several families with this disorder. Anna Newlin, MS Genetic Counselor Univ. of Illinois Eye and Ear Infirmary 312-996-8478 annanewl@uic.edu ************************************************************** The laboratories of Dr. Julie R. Korenberg at Cedars-Sinai Medical Center are pleased to announce the availability of our Genomic Reagents Resource: an integrated database of artificial chromosomes for use in molecular cytogenetic studies. A discussion of the resource and database, material transfer agreement, and GIF illustrations of the genome-wide distribution of the probes can be found at our Web site: http://www.csmc.edu/genetics/korenberg/korenberg.html Follow the link to the "Integrated YAC/BAC/PAC Resource". ************************************************************** ************************************************************** A POLICY ON REQUESTS FOR HUMAN SPECIMENS A debate has been ongoing among HMG editors on how to process requests for specimens (blood, DNA, cells.....) from patients/donors, posted on HMG. This problem stems from the global and innovative nature of HMG. While the debate is continuing, this editor thinks it is necessary to observe a minimal standard regarding the issues of study approval and protection against identification (of a certain individual through the specimen obtained). Therefore this editor assumes that any request for human specimens, 1) originates from studies with at least an IRB approval, 2) the samples will be effectively protected against identification of the patient/donor, and 3) the IRB approval contemplates the possibility of soliciting and obtaining samples from institutions other that the home institution and from other countries. Alternatively, the message should state that samples can be sent only from a restricted number of countries. Regarding the human specimens being sent/received, HMG implies that: "Appropriate consent was obtained, for use of this material, and it should be understood that information about this sample will be stored in a database without identification of the individual from whom they were derived." (This sentence was supplied by Jeanne C. Beck, NIGMS Human Genetic Mutant Cell Repository in conjunction with NIH). It is the responsibility of the individual sending the request, to verify that the above mentioned requirements are met; the mailing of the request to HMG implies acceptance of these guidelines. Carlo Gambacorti MD, Editor, Human Molecular Genetics Network Diagnostics/Clinical Research Section ************************************************************** **************************************************************