Dopamine Related Disease Database

Dr. Kathyrn Swoboda, M.D. is a clinical geneticist and neurologist at the University of Utah School of Medicine and Primary Children's Medical Center.  Dr. Swoboda has been instrumental in diagnosing and treating children with pediatric neurotransmitter diseases.  Recently she has designed and implemented a clinical and genetic relational database for patients with dopamine related neurotransmitter disorders.  She has designed a clinical questionnaire for families and is in the process of designing an additional one for physicians.

The goal is to correlate the information obtained from physicians and families with CSF neurotransmitter results.  Hopefully, with the information gathered from the questionnaires, additional insights will be obtained about the signs and symptoms of pediatric neurotransmitter diseases and the medications that are being used to treat them.

Also as part of this project, Dr. Swoboda would like to begin collection of blood samples for DNA extraction and permanent cell lines on all patients, their parents and one unaffected sibling if possible in order to facilitate additional studies.  Having a repository of such samples in one place along with cell lines for a permanent source of DNA will facilitate research efforts on PND's.

Participation is entirely voluntary and anonymous.  Any information obtained from the database will be done in an anonymous fashion, in order to protect the confidentiality of patients and families.

For further information about the database please contact:

Kathryn Swoboda M.D.
Primary Children's Medical Center
100 North Medical Drive
Salt Lake City, Utah 84132
Phone: (801) 585-9717
E-mail: [email protected]