Announcements

Developmental Genome Anatomy Project (DGAP)

Patients with apparently balanced chromosomal rearrangements and multiple congenital anomalies are being sought for participation in a gene discovery research project (http://dgap.harvard.edu). Goals of DGAP include rapid mapping of chromosomal breakpoints, positional cloning of genes interrupted or dysregulated at the breakpoints, and validation of genes identified in specific anomalies through creation of animal models. Further description of DGAP, sample submission and patient consent forms, and contact information are all available on the Web site, or by contacting Azra Ligon (aligon@rics.bwh.harvard.edu; 617-732-7671) or Heather Ferguson (hferguson1@partners.org; 617-525-4548). Your assistance in this project is deeply appreciated!

Neuronopathic Gaucher Disease (Type III)

Doctors at the National Institute of Neurological Disorders and Stroke, at the National Institutes of Health (NIH) invite you to take part in a research study (reference No. 02-N-0243). This study will evaluate the safety and effectiveness of OGT 918, an experimental drug and enzyme replacement therapy (ERT) compared to ERT in the treatment of Gaucher Type III. It is hoped that taking OGT 918 will improve the neurological symptoms of Gaucher Disease Type III. All studies are performed in compliance with safety and testing standards of the US Department of Health and Human Services. If you or someone you know is 12 years of age or older and has Type III Gaucher Disease, please contact us for more information at http://www.cc.nih.gov or call us at 1-800-411-1222 (TTY: 1-866-411-1010). The NIH is part of the Department of Health and Human Services.