HUM-MOLGEN archive: DIAG: 6 messages/3 Pt req.

***************************************************************** HUM-MOLGEN DIAGnostics/Clinical Research ***************************************************************** This DIAG message contains 3 professional and 3 patient requests: 1) Human cell line and DNA repository 2) Leukocyte Adhesion Deficiency trial 3) Urbach-Wiethe syndrome OMIM 247100 4) Liver cancer (pt request) 5) FG syndrome/OMIM 305450 (pt request) 6) 8p+ (pt request) Carlo Gambacorti, MD, Editor, Harker Rhodes, MD, Assistant Editor Human Molecular Genetics Network Diagnostics/Clinical Research Section ***************************************************************************** ***************************************************************************** 1) Human cell line and DNA repository The National Laboratory for the Genetics of Israeli Populations at Tel-Aviv University is a new repository for human cell lines and DNA samples, representing the unique and large ethnic variation of the Israeli populations. Our collection now includes over one thousand cell lines and DNA samples. For additional information please visit our web site: http://www.tau.ac.il/medicine/NLGIP/nlgip.htm Reply-To: "David Gurwitz" gurwitz@post.tau.ac.il ********** 2) Leukocyte Adhesion Deficiency trial Dear Colleagues, We are currently seeking patients for a Phase I clinical gene therapy trial for Leukocyte Adhesion Deficiency. Leukocyte Adhesion Deficiency patients contain mutations in the CD18 integrin molecule which prevent neutrophil adherence. Patients typically present at birth with delayed umbilical cord separation, and the disease manifests itself throughtout life with severe recurrent bacterial infections, absence of pus at wound sites, gingivitis/periodontitis, and chronic leukocytosis. We feel this is an exciting potential new therapy for this devasting disease. Please feel free to contact us if you have any questions. Thank you. Dennis D. Hickstein, M.D. (Principal Investigator) Associate Professor Thomas R. Bauer, Jr, Ph.D. (Co-PI) Acting Instructor Department of Medicine University of Washington phone: 1-206-764-2705 phone: 1-206-764-2118 fax: 1-206-764-2827 fax: 1-206-764-2827 email: dennishi@u.washington.edu email: tbauer@u.washington.edu Mailing address: VA Puget Sound HCS 1660 S. Columbian Way GMR 151 Seattle, WA 98108 ********** 3) Urbach-Wiethe syndrome OMIM 247100 We are presently caring for a patient with sporadic Urbach-Wiethe syndrome (Hyalinosis cutis et mucosae, Lipoid proteinosis or Lipoproteinosis) who shows calcification of the amygdalae on CT and suffers from pharmakoresistant epilepsy. Not only is the etiology of Urbach-Wiethe syndrome unknown but also the chemical nature of the material that is abnormally deposited in skin, submucosa and brain seems not clarified up to now. Since our patient is scheduled for epilepsy surgery (selective removal of amygdala and hippocampus) in the next few weeks this could provide an unique opportunity to characterize the pathologically stored calcifying substances. We are therefore looking for a laboratory that might be interested in a such a neurochemical analysis. Collaboration would be most welcome! Dr. A. Danek University Department of Neurology POB 701260 D-81366 M=FCnchen Germany phone xx49/89/7095-1; -2824 danek@GNF99M.NEFO.MED.UNI-MUENCHEN.DE ********** 4) Liver cancer (pt request) Apparent location: US Please reply directly to HumMolGen My daughter has been treated unsuccessfully with 5 FU and interferon at MD Anderson Cancer Center in Houston for liver cancer. We are looking for alternative therapies and are currently talking to Dr. Burzinski in Houston TX, regarding his anitneoplastine therapies. We would appreciate any information about experimental new (genetic) therapies. ********** 5) FG syndrome (pt request) Apparent location: US Please reply directly to HumMolGen We are parents of a 7.5 year old son who may possibly have FG (OMIM 305450) syndrome. We are currently working with Annemarie Sommer, MD, who forwarded our sons medical history and photographs to Dr. John Opitz. He in turn gave a possible diagnosis of FG. We are looking for more information about this syndrome. Any help would be appreciated. ********** 6) 8p+ (pt request) Apparent location: Australia Please reply directly to HumMolGen I am special needs teacher. In my class I have two students (7/11 years old) who have medical conditions/learning disabilities associated with a chromosome 8p+ disorder. I have been informed that the students are 2 of only 10 identified cases anywhere in the world with this condition. I don't know anything about the precise clinical details - the students are undergoing medical examination at present to establish more details. I am interested to learn anything about chromosome 8p+ disorders - potential long term intellectual development, life expectancy, existing educational programmes, literally anything. ****************************************************************************** HUM-MOLGEN - Internet Communication Forum in Human Genetics E-mail: HUM-MOLGEN@nic.surfnet.nl WWW: http://www.informatik.uni-rostock.de/HUM-MOLGEN/ Phone: 020-566 4598 (The Netherlands), (206) 386-2101 (USA) Fax: 020-691 6521 (The Netherlands), (206) 386-2555 (USA) ---------------------------------------------------------------------------- --------------- "copyright HUM-MOLGEN"