Schizencephaly Research Information
You Can Participate In The Following Research Project
Christopher A. Walsh Laboratory
Children's Hospital Boston
300 Longwood Avenue
Center for Life Sciences 14047
Boston, MA 02115
The Walsh Laboratory at the Children’s Hospital Boston
and Beth Israel Deaconess Medical Center
is looking for genes involved in brain development.
Conditions that we study include brain malformations,
such as schizencephaly, polymicrogyria,
lissencephaly, Walker-Warburg syndrome,
heterotopias, and cerebellar hypoplasia,
and inherited disorders of cognition,
such as familial mental retardation and familial autism.
Adults and children with these conditions,
and their family members,
are invited to participate in our study.
We hope that by finding the genes
responsible for these conditions,
we will better understand both
normal and abnormal brain development.
Participation in our research involves
providing a DNA sample,
usually by giving a small amount of blood
(3cc-20cc depending on age) and/or saliva,
as well as sharing information
about medical and family history.
Details we ask for include copies
of MRI images and medical records.
We request DNA samples
from affected individuals as well as
their parents and healthy siblings, when possible.
Reading and signing a research consent form
is required before enrollment.
General results of our study are made available
through scientific publications when the study is complete.
Because research can be a lengthy process,
it may be a very long time
before there are any results.
It is also possible that we will be
unable to identify the gene(s)
causing some conditions
and in these cases no results will be available.
Regulations prevent us from providing
direct results of individual research findings.
However, if there are research findings
that may be of possible medical benefit,
we can establish communications with a local doctor,
with the family’s permission,
to discuss the genetic information.
Follow-up counseling and another blood draw
for testing in a clinical laboratory
may be suggested,
though this may not be
available free of charge.
For more information about
our research
or to coordinate enrollment,
please contact Jennifer
Partlow or Brenda Barry,
genetic counselor research
at 617-919-2865 or
or email us at
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