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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.
Sincerely,
Louis
Ptacek M.D.
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