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  Carlo Gambacorti MD, National Cancer Institute, Milan - Italy: DIAG: 4 messages  
   

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To: HUM-MOLGEN@NIC.SURFNET.NL
Subject: DIAG: 4 messages
From: "Carlo Gambacorti MD, National Cancer Institute, Milan - Italy" <gambacorti@anprisc.anapat.istitutotumori.mi.it>
Date: Wed, 6 May 1998 19:12:38 +0200
Posted-Date: Wed, 06 May 1998 19:12:38 +0200

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


This DIAG message contains  4 professional requests:

1) del(3)(p23)
2) Marfan Syndrome
3) Agenesis of the corpus callosum
4) New publication in pharmaceutical technology transfer

REPLIES TO PATIENT REQUESTS SHOULD BE SENT TO HUM-MOLGEN.

REPLIES TO ALL OTHER MESSAGES  SHOULD BE SENT TO THE PERSON MAKING THE REQUEST
AND NOT TO HUM-MOLGEN.


Carlo Gambacorti, MD, Editor,            Harker Rhodes, MD, Assistant Editor
                       Human Molecular Genetics Network
                       Diagnostics/Clinical Research Section
*****************************************************************************
*****************************************************************************

1) Neuronpathic type III Gaucher disease

We have a patient with a deletion of the tip of the short arm of the thrid
chromosome i.e. del(3)(p23). The family is interested in meeting/talking
with other families with similar conditions.


N.J. Leonard
Assistant Professor
Medical Geneticist
Clinical Sciences Building B-139
University of Alberta
Edmonton, Alberta
CANADA T6G 2B7
phone (403) 492-4077
fax (403) 492-6845
****PLEASE NOTE NEW EMAIL ADDRESS ****
email norma.leonard@ualberta.ca

**********
2) Marfan Syndrome

We are doing a clinical research in Marfan Syndrome, and we are
interested in molecular research of this Syndrome.  I would like to be in
contact with the others geneticians and molecular biologist that work in
Marfan
Syndrome, to know their
experiences.

Rosaralis Arrieta Garcia <ROSA@vgiron.giron.sld.cu>

**********
3) Agenesis of the corpus callosum

I am a Physical Therapist Assistant student and have been working with a young
boy with this autosomal recessive disorder.  He also has been diagnosed with
Agenesis Corpus Callosum.  I am having a difficult time finding ANY
information
on these conditions.  Any help you can give me will be greatly appreciated.

                                      Thank you.

                                       K Burdette
burdet@zoomnet.com
**********
4) New publication in pharmaceutical technology transfer

A source of funding for researchers

The basic idea:

Ballantyne Ross will soon be launching a new publication, Pharma Technology
Transfer which will address issues of technology transfer from universities,
research institutes and hospitals to the pharmabiotech industry. The
publication will, in effect, comprise a global supermarket in ideas for drug
discovery/development comprising 300-word abstracts solicited from interested
researchers summarising their ideas for drug discovery.

We are now actively requesting abstracts from research workers.

Different types of abstract:

The abstracts will cover a wide range of ideas at varying stages of gestation
from early stage research through to more developed projects where patents may
have been filed or even granted.  This early stage research can be defined as
the
pre-inventive phase (to use the current jargon in the patent field) and this
obviously has the potential of leading to a patentable invention. The
publication
will then be targeted at the global pharmabiotech industry thus affording
industry a
comprehensive source of ideas for drug discovery/development. From the
researcher's
point of view it affords a global contact point for potential sources of
funding for
early-stage projects and licensing opportunities for developed projects.

Providing a meaningful abstract:

It is important to provide a meaningful abstract (300 words) for the end
reader
in
the pharmabiotech industry. Clearly, there is the problem of divulging too
much
information in early-stage research where patents have not been filed but
obviously
what is needed is an informative  summary of work and ideas in sufficient
detail as to
intrigue industry but not so bland as to be utterly meaningless. One should
avoid
simplistic profiles of your department's particular expertise.

Structuring your abstract:

The best way to approach the situation is to imagine that you have been
appointed head
of R&D at a regular pharmaceutical company for the day with a remit to suggest
ideas
for discovery/development based on your own work and experience however
irrelevant your current research to drug discovery may seem at first sight.
For
example, basic researchon the family of proteins regulating meiosis currently
under investigation in a widerange of laboratories including departments of
cell biology and even plant biology maywell have relevance to non-dysjunction
in Down's Syndrome. The connection therefore is not always obvious.

In the first place, describe in broad terms the basic concept and then
elaborate on a
selection of experimental approaches you intend to presue in order to explore
the
potential of your proposed project.  By stressing the experimental approaches
rather
than elaborating in too much detail on key enzymes, molecules or genes for
example, you
should successfully avoid the problem of releasing key information prior to
the
date at
which you may subsequently apply for a patent.  Finally, summarise and
highlight the
potential applications of your research. For your guidance we are providing a
model
abstract for early stage projects.


Multiple submissions are welcome from yourself and colleagues.

The question of patents:

The question of patents is clearly important and in this respect your abstract
may fall
under four categories:-

1).     Patent already granted,

2).     Patent filed and published,

3).     Patent filed but not published,

4).     Early-stage research - no patents applied for.

You should indicate in your abstract which of the categories your abstract
falls under.
We would advise you to liaise with your technology transfer officer about the
patent
implications of your abstracts. If there is no transfer technology officer in
your area
we can advise on patent problems.

In the event that your proposal evokes interest and support from industry we
would again
advise you to contact your local transfer technology officer prior to any
negotiation
especially with regard to confidentiality and future intellectual property
rights.

Sending you abstract to Ballantyne Ross:

Include your full name, address, fax/tel/e-mail plus patent category on the
submitted
extract. After you have finalised your abstract, it should be shipped to
Ballantyne Ross
on disk in either:-

1).     Microsoft Access,

2).     Microsoft Excel (version 5),

3).     Comma, separated text.

Please ensure that a hard copy accompanies the disk. In exceptional
circumstances we
will accept hard copy only.

All enquires to Dr J. Jennings at:

Ballantyne Ross Ltd.
16 Hampden Gurney Street
London
W1H 5AL

Telephone:      44 (0) 171 724 5444
Fax:            44 (0) 171 724 2632
E-mail:         isopps@dial.pipex.com

SAMPLE ABSTRACT (300 WORDS)

Meiotic aberrations and Downs syndrome

Currently, little is invested by the pharmabiotech industry in the field of
mental
retardation of which Down's syndrome and Fragile X disease are important
examples.
This is despite the fact that over one million people are afflicted with
severe
mental retardation in Europe/USA alone. We are presently initiating a
programme
of
research into the molecular biology of meiosis in the human female with a view
to
studying the mechanism of non-dysjunction of chromosome 21 in Down$E2s
syndrome
and
thence possible intervention strategies. In an attempt to determine the
occurrence
and organisation of meiosis-specific chromosome proteins, we constructed a
cDNA
expression library from human ovaries. This library was screened with sera
from
rabbits and mice inoculated with human SCs to identify clones producing SC
antigens. At the present time we have characterised five meiotic chromosome
proteins who encoding cDNAs were isolated with this approach. One protein JEN2
exhibited 90% identity with the rat SCP1 and hamster Syn1. Using antibodies
raised in different hosts against various meiotic components, the temporal and
spatial relationships of cores, lateral domain proteins and SC proteins were
visualised simultaneously with two colour immuno labelling for epifluorescence
microscopy or differential immunogold labelling for electron microscopy. The
next stage is to fully characterise these proteins particularly for DNA
binding
and proteolytic domains and to more fully establish their temporal association
in the meiotic process. The importance of these studies is that they
 will establish a firm basis for an understanding of the molecular basis of
meiosis in humans with the ultimate aim of providing a basis for possible
intervention strategies for meiotic non-dysjunction in man.

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