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Research Laboratory

 

 

General Information

 

Thank you for visiting our website. We are a research laboratory focused on identification and characterization of genes that cause normal variations and disorders of the nervous system.

 

Our laboratories are lead by Drs. Ying-Hui Fu and Louis Ptacek. Our team consists of postdoctoral fellows, lab technicians, and study coordinators working in conjuction to extend the boundaries of medical knowledge.

 

All of the genetic work that we have done begins in families with hereditary neurological disorders. We have characterized new clinical phenotypes such as FASPS and SCA4 and have done defining clinical characterization for other disorders such as autosomal dominant leukodystrophy, SCA7, and Andersen/Tawil syndrome. In addition, genetic characterization of some of these disorders has resulted in clinical trials that have been led by collaborators with expertise in experimental therapeutics. Our database of patients has provided an important resource for participating in clinical trials being led by our collaborators.

 

If you would like to contact Drs. Ying-hui Fu or Louis Ptacek, please use the numbers below:

 

Tel: +1.415.502.5614

 

If you would like to learn more about our research or studies, please contact our clinical coordinator below.  

Nancy Nelson

+1.801.581.8865

If you would like to contact our postdoctoral fellows or laboratory assistants, please call the numbers below:

 

Tel: +1.415.514.9310

 

Our labs or located on the UCSF Mission Bay Campus at the address below:

 

UCSF, Department of Neurology

1550 Fourth Street, Suite 546, Box 2922

San Francisco, CA 94158

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Participate in a Research Study:

Thank you for your interest in our studies. We are a research laboratory focused on finding the genetic variations that cause disease and understanding the molecular mechanisms underlying the symptoms of disease. A greater understanding of these diseases will lead to better treatment in the future and possibly lead to cures.

Since our research focuses on hereditary neurological disorders, we depend on the generous contributions of our participants and their families. We would greatly appreciate hearing from you if you would like to participate in one of our studies.  

Participation in our studies is 100% voluntary and participants may withdraw from the study at any time. Maintaining the privacy or our participants' health information is a top priority. We do not distribute participant information to health insurance agencies or employers. We do not use DNA samples or patient information for revenue-generating purposes. DNA samples and clinical files are used for research purposes only and kept in locked files and cabinets.

Currently, we are enrolling participants afflicted by the following conditions:

  • FASPS
  • FDSPS
  • FNSS
  • ADLD
  • SCA4
  • Paroxysmal Kinesigenic Dyskinesia
  • Thyrotoxic Periodic Paralysis
  • Andersen-Tawil Syndrome
  • If you would like to find out more information about any of our studies or would like to participate in one of our research projects, please contact one of our study coordinators.

    Please note that we do not have clinical facilities to see patients. If you would like to see a neurologist, you may contact the UCSF Neurology Clinic to schedule an appointment with a neurologist.

     

    UCSF Neurology Clinic Website

     

    The direction of research is always changing and any of our studies may open for enrollment at any time. If you would like to add your name to our database or have questions about any of the studies, please feel free to contact our study coordinators.

    Study Coordinator:

    Nancy Nelson

    +1.801.581.8865

     

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    Enrolled participants:

    If you are currently enrolled in one of our studies, we thank you for your time and effort in participating. The contributions of our participants make our research possible and enable scientific breakthroughs. 

    We would be delighted to share the progress of our research with you and answer any questions that you may have. Due to human subjects protections, we are not able to give you any specific information about the status of your particular DNA sample.

    Please check back to the website periodically to find out the latest developments of our research projects.

    We would also appreciate hearing from you if you have moved or changed any of your contact information. Please call or drop us an email at the information below.

    Nancy Nelson

    +1.801.581.8865

    Tom McMahon

    +1.415.502.5614

     

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    Research Laboratory:

    If you would like to contact one of our postdoctoral fellows or lab assistants, please call the numbers below:

     

    Tel: +1.415.514.9310

     

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