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We are focused on studying genetic disorders of brain, nerve & muscle. Through better understanding of neurological disorders will come better diagnoses and treatments. |
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ying-hui fu's & louis ptáček's |
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laboratories of neurogenetics | ||
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familial advanced sleep phase syndrome Familial Advanced Sleep Phase Syndrome is a circadian rhythm disorder in which sleep onset occurs in early evening and, as a consequence, wakefulness occurs in early morning. This disorder is more common in the elderly. Our Research We have isolated one gene called hPer2 that causes FASPS when it occurs in a variant (mutant) form. Other genes that are transmitted in an autosomal dominant fashion are known to cause FASPS in laboratory animals. We have shown that not all families with FASPS have the hPer2 mutation. Therefore, mutations in other genes must also be responsible for FASPS. Investigating sporadic cases of FASPS will be valuable in identifying new mutations. Our Laboratories Sometimes, symptoms caused by other medical conditions can mimic the effect of genetic mutations. In such cases, diagnosis and treatment of the condition is most effectively provided through traditional medical channels. Academic research laboratories such as ours do not usually provide these services; rather we are focused on genetic discoveries we hope will lead to defining these future diagnostic and treatment pathways. Study Status If you believe that you or a family member may qualify and would be interested in participating in this study, please contact the Clinical Coordinator listed below. What Does Study Participation Involve? 1. As an initial screening process, you will be asked to fill out four questionnaires. These questionnaires are used to help researchers assess your sleep patterns and account for factors affecting the quality of your sleep. 2. If your sleep patterns appear to match the sleep patterns currently under study, you may be asked to submit additional information including medical records and/or test results that will be used in the medical evaluation. 3. An interview with a sleep doctor will then be done in person or over the phone. The interview consists of questions about your sleep schedule and factors affecting it. 4. You will be asked to donate a blood sample (approximately 2-3 tablespoons) which we will use to isolate the DNA that we study. Contact Kristin Wong, Clinical Coordinator University of California San Francisco Department of Neurology, MC 2922 1550 Fourth St., Room 546 San Francisco, CA 94158-2324 USA Tel: +1.415.502.3976 Fax: +1.415.502.5641 Email: kristin.wong2@ucsf.edu |
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Quick Links: For more information, please visit the following sites: National Center on Sleep Disorders Research |
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circadian rhythm & sleep | episodic disorders | neurodegeneration |
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UCSF - Department of Neurology,
MC 2922 1550 Fourth St., Room 548 San Francisco, CA 94158-2324 USA tel: +1.415.502.5614 fax: +1.415.502.5641 |
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If you experience any difficulties with this site, please email our web developer. The University of California, San Francisco, CA 94143, +1.415.476.9000 Copyright © 2004-2006 The Regents of the University of California. All Rights Reserved. |
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