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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.

 

ying-hui fu's & louis ptáček's

   
laboratories of neurogenetics
     

familial delayed sleep phase syndrome

FDSPS individuals experience a delay of their sleep cycle so that they fall asleep late in the night and wake late in the morning or afternoon.  FDSPS is also thought to be heritable, but so far very little is known about the genetic basis of FDSPS. This sleep disorder is relatively common in adolescents and often seems to resolve with age, but other individuals are affected by this condition all of their lives.  While it has been difficult to fully determine the sociocultural factors that influence this sleep pattern in adolescents, it may have a strong biological basis.

Our Research

Recent animal experiments strongly suggest that autosomal dominant mutations could cause human FDSPS. Further research into FDSPS is proposed in order to find and identify genes causing this syndrome.  Our long-term goal is to develop therapies for this syndrome based upon our understanding of its biological basis.

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

 

Quick Links:

For more information, please visit the following sites:

National Center on Sleep Disorders Research

Sleep Information for Patients and the General Public

National Sleep Foundation

American Sleep Association

MedlinePlus: Sleep Disorders

National Society of Genetic Counselors

 

circadian rhythm & sleep   |   episodic diseases   |   neurodegeneration

 

UCSF - Department of Neurology, MC 2922
Fu & Ptáček Laboratories

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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