Patient Outreach

We actively collect clinical information and DNA from individuals in families affected by disorders we study in the laboratory.  Through study of such families (samples from both affected and unaffected individuals), we are able to localize and clone human neurological disease genes and study the biological basis of these disorders.  For more information, please read about our research projects.

Why We Need Your Help

In the study of genetic disorders and genetic variations in normal traits, participation from individuals (and their families) with such disorders is critical. By identifying individuals and their families in whom specific traits seem to travel (a brain disease or eye color, for that matter), it is possible to study the DNA from individuals (that we obtain from blood cells) and to trace the genetic factor that leads to the trait being studied.  All of the information we collect is completely confidential.
Over the years our work has benefited tremendously from remarkably generous individuals and families who have participated in our studies of muscular dystrophies, epilepsy, paroxysmal dyskinesias, sleep disorders, and other neurological diseases.  Some people participate because they’re interested in genetics in general.  Often people participate because someone in their family has a neurologic disorder and they hope that their participation may one day lead to better diagnosis and treatment of such patients.  While our goal is ultimately to develop better therapies, it is important to point out that this work takes a lot of time and it is often true that direct benefit to participants will not occur. However, there are examples where our work in the genetics of muscle diseases has led to a therapeutic trial in patients with those diseases.  Participation in our studies is completely voluntary.  We encourage you to consider participating and will be happy to answer any questions you have. Thank you for your time.


Louis Ptacek M.D.