HUM-MOLGEN archive: DIAG: 5 messages

************************************************************** HUM-MOLGEN DIAGnostics/Clinical Research ************************************************************** This DIAG message contains 4 submessage(s): 1) Mitochondrial DNA and male infertility 2) Collaboration req. from Pakistan 3) Neurofibromatosis type 1 4) HMGN POLICY ON REQUESTS FOR HUMAN SPECIMENS/ III MAILING Carlo Gambacorti MD, Editor, Human Molecular Genetics network Diagnostics/Clinical Research Section ************************************************************** ************************************************************** Hi: We've just started a 3-year project surveying mitochondrial DNA deletions/mutations in relation to human male infertility and I'm interested in making contact with anyone else in this field. Further information on our thinking behind this project can be foundin our review: Cummins JM, Jequier AM, Kan R. Molecular biology of human male infertility - links with aging, mitochondrial genetics, and oxidative stress? Mol Reprod Devel 1994;37(3):345-362. Jim o~o~o~ Cummins - Associate Professor in Veterinary Anatomy Murdoch University, Western Australia 6150 Tel +61-9-360 2668, Fax +61-9-310 4144 URL http://Numbat.murdoch.edu.au/vetbiol/images/cummins.htm ************************************************************** Please could the following call for collaboration be placed on the bulletin board. I have had a request for assistance in finding possible collaborators to help two medical geneticists in Pakistan. They have identified several families with the following disorders: 1) Dwarfism with multiple bone abnormalities (autosomal dominant) 2) Multiple exocytosis (autosomal recessive) two families 3) Mental retardation (X linked). More than 50 members affected and living in one village. 4) A new type of anodantia (autosomal recessive) 5) Nail abnormalities 6) Alopecia (autosomal recessive) There are more than 15 affecteds in each family. For further information contact Dr Nigel K Spurr at spurr@icrf.icnet.uk ************************************************************** We are researching on the molecular genetics of Neurofibromatosis type 1 ( NF1 ). We require either DNA or a blood sample from a new mutation case and their unaffected parents. Please contact Meena Upadhyaya Institute of medical genetics Heath Park Cardiff CF4 4XN U.K FAX 01222 747603 Phone 01222 744084 WMGMU@CARDIFF.AC.UK ************************************************************** 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 full acceptance of these guidelines. Carlo Gambacorti MD, Editor, Human Molecular Genetics Network Diagnostics/Clinical Research Section ************************************************************** **************************************************************