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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
       

 

 

Paroxysmal Dyskinesia

Periodic Paralysis

Episodic Ataxia

Migraine

Epilepsy

Photic Sneeze Reflex

photic sneeze reflex

Photic Sneeze Reflex is a trait characterized by involuntary sneezing after an individual is exposed to bright light after adapting to the dark. This trait is believed to be inherited, but identification of the specific genes involved has not been made yet. Photic sneeze reflex occurs in about 10 percent of people. This trait is of interest when considering the reflex component of the disorders already mentioned.

Our Research

By studying families with Photic Sneeze Reflex, researchers are trying to find the cause of this trait by identifying the gene. This work will aid in understanding the cause of this condition and other episodic disorders.

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

We are currently studying the genetic mutation(s) associated with this condition and are not collecting additional samples at this time. However, research directions change with every new discovery. If you would like to be considered for future research studies on PSR, 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 a questionnaire describing your family disease history. This questionnaire is used to help researchers assess your medical condition.

2. If your condition appears to match the condition 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. 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 Organization for Rare Disorders

National Institute of Neurological Disorders & Stroke

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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