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Some questions to the groups of
Geneticists who are working on Joubert Syndrome answers
from the University of San Diego
by Dr. Joseph Gleeson
Oct 15, 2003
Hi Everyone:
In response to some questions that some members had
regarding the scientists, collaboration and a recent new
publications for another mutation being discovered, I
sent some questions to the groups of Geneticists who are
working on Joubert Syndrome. The responses below are
from the San Diego group.
Cheryl Duquette, President and Co-Founder
Joubert Syndrome Foundation & Related Cerebellar
Disorders
6931 South Carlinda Ave.
Columbia, MD 21046
410-997-8084 fax: 410-992-9184
email:
joubertduquette@comcast.net
Dr. Joseph Gleeson's response:
Cheryl Duquette asked me to answer some questions
regarding the state of collaborations between the
different laboratories working on Joubert syndrome,
especially in reference to the relationship between my
group and the University of Washington team, which
includes Drs. Chance and Parissi. We very much respect
your willingness to participate in these studies, and I
view it as my duty to answer your questions here in as
open a manner as possible.
First, let me thank you all for your willingness to
participate with genetic studies. Our work on JS really
depends on your participation, and our goal is the same
as yours: improved pre-diagnosis, prenatal testing and
ultimately treatment, so that this research is
beneficial to individuals with JS and families. We
believe our recent publication on JS to be a major
advance in our understanding of the genetic causes of
this condition. I will briefly summarize the findings:
We identified the first solid genetic evidence that the
atypical form of JS (that includes eye or kidney
disease) is distinct from the form that does not include
these features. In our publication, we report finding
three families that show genetic "linkage" to a place on
chromosome 11. This means that there is a region on
chromosome 11 that contains a gene that, when mutated,
causes this form of JS. We have not identified the
actual gene yet, but we are working hard to do this in
collaboration with several research groups.
We have now found several families (we believe about 10)
that show possible evidence for disease on chromosome
11. We cannot be absolutely certain regarding about 5 of
these families, because they are relatively small and
our technique works best on large families. In these
families, where Joubert syndrome can be clearly “linked”
to chromosome 11, prenatal testing should now be
possible.
Joubert Syndrome Foundation (JSF) Question: Are
Dr. Chance and Dr. Gleeson working together or
separately on the genetic studies?
Joseph Gleeson MD. (JG) Answer: Unfortunately,
Dr. Chance's group and my group are not working together
at the present time on gene
identification in JS.
JSF Question: If we sent blood to Dr. Chance, may
we also want to send to Dr. Gleeson?
JG Answer: It is certainly true that the more DNA
samples we have to work with, the faster our research
will progress. Although it is not ideal to have blood
drawn more than once, members of the JSF should know
that samples are not being universally shared. For
example, with a few exceptions, my lab is not exchanging
samples with the laboratory at the University of
Washington.
Since different research groups are obtaining different
results, and are using different strategies in searching
for the genes, I think parents who have sent samples to
other laboratories should strongly consider enrolling in
the Gleeson Lab study, and any other studies that were
making advances.
Although we are not collaborating currently, I hope that
we can collaborate in the future. The University of
Washington group headed by Dr. Chance has done important
work on Joubert syndrome, and we encourage you to
participate in studies with the knowledge that
researchers using a with a diversity of approaches will
lead to the swiftest progress.
Thank you very much,
Yours sincerely,
Joseph Gleeson, MD
Pediatric Neurology
jogleeson@ucsd.edu
http://gleesongenetics.ucsd.edu
Ph 858-822-3786 Fax 858-534-1437
Toll free: 1-866-KID-MIND (866-543-6463) |
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