HUM-MOLGEN archive: DIAG: 4 messages

***************************************************************** HUM-MOLGEN DIAGnostics/Clinical Research ***************************************************************** This DIAG message contains 4 professional requests: 1) del(3)(p23) 2) Marfan Syndrome 3) Agenesis of the corpus callosum 4) New publication in pharmaceutical technology transfer REPLIES TO PATIENT REQUESTS SHOULD BE SENT TO HUM-MOLGEN. REPLIES TO ALL OTHER MESSAGES SHOULD BE SENT TO THE PERSON MAKING THE REQUEST AND NOT TO HUM-MOLGEN. Carlo Gambacorti, MD, Editor, Harker Rhodes, MD, Assistant Editor Human Molecular Genetics Network Diagnostics/Clinical Research Section ***************************************************************************** ***************************************************************************** 1) Neuronpathic type III Gaucher disease We have a patient with a deletion of the tip of the short arm of the thrid chromosome i.e. del(3)(p23). The family is interested in meeting/talking with other families with similar conditions. N.J. Leonard Assistant Professor Medical Geneticist Clinical Sciences Building B-139 University of Alberta Edmonton, Alberta CANADA T6G 2B7 phone (403) 492-4077 fax (403) 492-6845 ****PLEASE NOTE NEW EMAIL ADDRESS **** email norma.leonard@ualberta.ca ********** 2) Marfan Syndrome We are doing a clinical research in Marfan Syndrome, and we are interested in molecular research of this Syndrome. I would like to be in contact with the others geneticians and molecular biologist that work in Marfan Syndrome, to know their experiences. Rosaralis Arrieta Garcia <ROSA@vgiron.giron.sld.cu> ********** 3) Agenesis of the corpus callosum I am a Physical Therapist Assistant student and have been working with a young boy with this autosomal recessive disorder. He also has been diagnosed with Agenesis Corpus Callosum. I am having a difficult time finding ANY information on these conditions. Any help you can give me will be greatly appreciated. Thank you. K Burdette burdet@zoomnet.com ********** 4) New publication in pharmaceutical technology transfer A source of funding for researchers The basic idea: Ballantyne Ross will soon be launching a new publication, Pharma Technology Transfer which will address issues of technology transfer from universities, research institutes and hospitals to the pharmabiotech industry. The publication will, in effect, comprise a global supermarket in ideas for drug discovery/development comprising 300-word abstracts solicited from interested researchers summarising their ideas for drug discovery. We are now actively requesting abstracts from research workers. Different types of abstract: The abstracts will cover a wide range of ideas at varying stages of gestation from early stage research through to more developed projects where patents may have been filed or even granted. This early stage research can be defined as the pre-inventive phase (to use the current jargon in the patent field) and this obviously has the potential of leading to a patentable invention. The publication will then be targeted at the global pharmabiotech industry thus affording industry a comprehensive source of ideas for drug discovery/development. From the researcher's point of view it affords a global contact point for potential sources of funding for early-stage projects and licensing opportunities for developed projects. Providing a meaningful abstract: It is important to provide a meaningful abstract (300 words) for the end reader in the pharmabiotech industry. Clearly, there is the problem of divulging too much information in early-stage research where patents have not been filed but obviously what is needed is an informative summary of work and ideas in sufficient detail as to intrigue industry but not so bland as to be utterly meaningless. One should avoid simplistic profiles of your department's particular expertise. Structuring your abstract: The best way to approach the situation is to imagine that you have been appointed head of R&D at a regular pharmaceutical company for the day with a remit to suggest ideas for discovery/development based on your own work and experience however irrelevant your current research to drug discovery may seem at first sight. For example, basic researchon the family of proteins regulating meiosis currently under investigation in a widerange of laboratories including departments of cell biology and even plant biology maywell have relevance to non-dysjunction in Down's Syndrome. The connection therefore is not always obvious. In the first place, describe in broad terms the basic concept and then elaborate on a selection of experimental approaches you intend to presue in order to explore the potential of your proposed project. By stressing the experimental approaches rather than elaborating in too much detail on key enzymes, molecules or genes for example, you should successfully avoid the problem of releasing key information prior to the date at which you may subsequently apply for a patent. Finally, summarise and highlight the potential applications of your research. For your guidance we are providing a model abstract for early stage projects. Multiple submissions are welcome from yourself and colleagues. The question of patents: The question of patents is clearly important and in this respect your abstract may fall under four categories:- 1). Patent already granted, 2). Patent filed and published, 3). Patent filed but not published, 4). Early-stage research - no patents applied for. You should indicate in your abstract which of the categories your abstract falls under. We would advise you to liaise with your technology transfer officer about the patent implications of your abstracts. If there is no transfer technology officer in your area we can advise on patent problems. In the event that your proposal evokes interest and support from industry we would again advise you to contact your local transfer technology officer prior to any negotiation especially with regard to confidentiality and future intellectual property rights. Sending you abstract to Ballantyne Ross: Include your full name, address, fax/tel/e-mail plus patent category on the submitted extract. After you have finalised your abstract, it should be shipped to Ballantyne Ross on disk in either:- 1). Microsoft Access, 2). Microsoft Excel (version 5), 3). Comma, separated text. Please ensure that a hard copy accompanies the disk. In exceptional circumstances we will accept hard copy only. All enquires to Dr J. Jennings at: Ballantyne Ross Ltd. 16 Hampden Gurney Street London W1H 5AL Telephone: 44 (0) 171 724 5444 Fax: 44 (0) 171 724 2632 E-mail: isopps@dial.pipex.com SAMPLE ABSTRACT (300 WORDS) Meiotic aberrations and Downs syndrome Currently, little is invested by the pharmabiotech industry in the field of mental retardation of which Down's syndrome and Fragile X disease are important examples. This is despite the fact that over one million people are afflicted with severe mental retardation in Europe/USA alone. We are presently initiating a programme of research into the molecular biology of meiosis in the human female with a view to studying the mechanism of non-dysjunction of chromosome 21 in Down$E2s syndrome and thence possible intervention strategies. In an attempt to determine the occurrence and organisation of meiosis-specific chromosome proteins, we constructed a cDNA expression library from human ovaries. This library was screened with sera from rabbits and mice inoculated with human SCs to identify clones producing SC antigens. At the present time we have characterised five meiotic chromosome proteins who encoding cDNAs were isolated with this approach. One protein JEN2 exhibited 90% identity with the rat SCP1 and hamster Syn1. Using antibodies raised in different hosts against various meiotic components, the temporal and spatial relationships of cores, lateral domain proteins and SC proteins were visualised simultaneously with two colour immuno labelling for epifluorescence microscopy or differential immunogold labelling for electron microscopy. The next stage is to fully characterise these proteins particularly for DNA binding and proteolytic domains and to more fully establish their temporal association in the meiotic process. The importance of these studies is that they will establish a firm basis for an understanding of the molecular basis of meiosis in humans with the ultimate aim of providing a basis for possible intervention strategies for meiotic non-dysjunction in man. ************************************************************************ HUM-MOLGEN - Internet Communication Forumin Human Genetics E-mail: HUM-MOLGEN@nic.surfnet.nl WWW: http://www.informatik.uni-rostock.de/HUM-MOLGEN/ Phone: 020-5664598 (The Netherlands), (206) 386-2101 (USA) Fax: 020-691 6521 (The Netherlands), (206) 386-2555 (USA) ---------------------------------------------------------------------------- --------------- >"copyright HUM-MOLGEN"