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To: Multiple recipients of list HUM-MOLGEN <HUM-MOLGEN@NIC.SURFNET.NL>
Subject: DIAG: 5 messages (1 PT REQ)
From: Carlo Gambacorti <GAMBACORTI@ICIL64.CILEA.IT>
Date: Tue, 15 Oct 1996 15:48:45 +0000
Date-warning: Date header was inserted by ICIL64.CILEA.IT

**************************************************************
           HUM-MOLGEN  DIAGnostics/Clinical Research
**************************************************************


This DIAG message contains 5 submessage(s):

1)   Fragile X locus (FMR1)/call for collaboration

2)   Friedreich's Ataxia/PT  REQ.

3)   trisomy 21 by FISH/setting up the service in Greece

4)   DIDMOAD/Wolfram syndrome: correction of address

5)   DIAG on WWW: IMPORTANT MESSAGE FROM THE EDITOR





  Carlo Gambacorti MD, Editor,
  Human Molecular Genetics Network
  Diagnostics/Clinical Research Section


**************************************************************
**************************************************************

     I am working on a Phase II SBIR application to the NIH focused on
     novel methods for high-throughput genotyping in triplet repeat
     expansion disorders.  In one specific section of the proposal, we
     describe some novel separation methods we would like to test for
     differentiating punctuated (low risk) and non-punctuated (high-risk)
     premutation alleles at the Fragile X locus (FMR1).  Due to the long
     size of the disease-causing alleles at this locus, most diagnostic
     laboratories are currently not using PCR for Fragile X.  However,
     premutation alleles are reported to amplify by PCR.  We are seeking
     access to FMR1 PCR products from premutation alleles to include
     profiles in the Phase II application which is due December 15, 1996.

     We have developed a novel DNA separation matrix that allows separation
     of 80 bp- 40 kb in very short runs on the instrument system that I am
     validating (See Mansfield et al. 1996 Am. J. Hum. Genetics 59(4):
     A307.) Our detection limits are approximately 2-3 orders of magnitude
     lower than other instrument systems.  This should permit non-abundant
     PCR products to be detected.  If you have PCR product from FMR1
     premutation alleles that we might test for this purpose, I would very
     much like to collaborate.

     Elaine S. Mansfield, Ph.D.
     Molecular Dynamics, Inc.
     emansfield@MDYN.COM

**************************************************************


I am new to this communications list.  I am searching for information
on reputable labs which are able to perform genetic testing for
Friedreich's Ataxia.  My close friends have a child who is being
worked up for this and related syndromes. My understanding in that
the genetic location has only recently been identified and few labs
are appropriate for this.  Any suggestions?
 The patient lives in the Buffalo, New York area.


PLEASE REPLY DIRECTLY TO HUMAN MOLECULAR GENETICS NETWORK

**************************************************************


From: Dr Elena Kontogianni <elkont@HOL.GR>

we plan to develop a program for prenatal diagnosis of trisomy 21 by FISH
(and confirm the results by cytogenetics) . If somebody is offering the same
service,  I would be very interested to discuss technical and legal details.



**************************************************************
**************************************************************

I am a clinical research fellow undertaking a study of the DIDMOAD/Wolfram
syndrome of
diabetes and optic atrophy. I have spent the last 2 years seeing about 35
children and adults
with this condition, in order to understand the natural history,
complications, and inheritance.
The aim of my study is firstly to characterise the condition and share the
information as widely
as possible to help the clinicians looking after patients. Secondly to
collect blood samples from
patients and close relatives to extract the DNA and look at the genetic
causes, hopefully to
find the gene(s) and look for mutations that cause this.

I would like to hear from clinicians who have patients with juvenile onset
(under 30 years)
diabetes mellitus, and optic atrophy as a minimum.

I would also like to hear about patients with a related condition of thiamin
responsive anemia,
deafness and diabetes.

My contact Email address: Barrettg@VMS1.bham.ac.uk

***************************************************************************



     Starting today (October 15),  the DIAG section of HUM-MOLGEN is
available on our
WWW site at   http://www.informatik.uni-rostock.de/HUM-MOLGEN/
Just click on "Clinical Research". As a courtesy to persons who already sent
messages to
DIAG, all postings which appeared in 1996 have been appended and will remain
until the end
of the year. Beginning January 1, 1997,  messages will be deleted 3 months
after the posting
date. The same policy of DIAG will be applied to the web version.
     We believe this new service will increase the quality and value of the
Human Molecular
Genetics Network to our subscribers.

Carlo Gambacorti MD
Editor,
for HUM-MOLGEN


   
 
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