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First International Conference on Haploinsufficiency Diseases

Fondation Merieux , Lac D'Annecy, France
26-29 June 1996

Invited Speakers: Full list available upon request.

Program:

Full program and list of speakers will be sent upon request.
The program covers gene identification stragegies, state of the art information on a wide range of haploinsufficiency syndromes, animal models, function of haploinsuffienct genes and will include presentations and posters from partcipants.



Wednesday, June 26, 1996


Introduction :

P. Scambler
F. Grosveld



Thursday, June 27, 1996


Gene identification strategies

Chairperson : A. Ballabio

"New strategies for gene identification from nucleotide sequences" : J.M. Claverie

"Strategies to systematic gene identification in large genomic regions" : A.M. Poustka


Diseases : session I

Chairperson : D. Ledbetter

PKD1, Williams syndrome

"Sex reversal and campomelic dysplasia" : P. Goodfellow


Diseases : session II

Chairperson : A. Aurias

X-linked syndrome : A. Ballabio

"The Rubinstein-Taybi syndrome : haploinsufficiency of the CREB-binding protein, CBP" : M. Breuning

"Haploinsufficiency and genomic imprinting : the Prader-Willi and Angelman syndromes" : B. Horsthemke


RET

Chairperson : V. van Heyningen

"Mutations of the RET proto-oncogene in human neurocristopathies" : M. Billaud

"Genetics of Hirschsprung's disease and related neurocristopathies" : S. Lyonnet



Friday, June 28, 1996


Haploinsufficiency in animals

Chairperson : P. Scambler

"Gene dosage-sensitive developmental mechanisms in Drosophila" : V. Pirrotta

"Genetic analysis of transcription factors expressed in the mouse organizer" : S.L. Ang

"Developmental role of the c-ret proto-oncogene" : V. Pachnis


Diseases : session III

Chairperson : B. Horsthemke

"The 22q11.2 deletions : defining the critical region" : B. Emanuel

"Genes involved in Miller-Dieker syndrome and isolated lissencephaly" : D. Ledbetter

"Molecular basis of human chromosome 17 short arm (17p11.2) deletions associated with the Smith-Magenis syndrome" : M. Fontes

Posters

Selected talks

Chairperson : P. Goodfellow



Saturday, June 29, 1996


Development and Cancer

Chairperson : B. Ponder

"Phenotypes associated with mutations in the c-ret gene" : B. Ponder

"Gene dosage effects on disease phenotype in the WAGR region" : V. van Heyningen

"Developmental abnormalities associated with PAX genes" : A. Read


Diseases : session IV

Chairperson : B. Emanuel

"The mechanism of chromosome breakage in Jacobsen syndrome" : A. Tunnacliffe

"Molecular dissection of the Langer-Giedion syndrome" : H.J. Ludecke

"Molecular cytogenetic investigation of idiopathic mental retardation" : J. Flint

Registration :

Information from Dr Marc Lipinski FAX 33 1 45 59 70 24

Registration, meals and accomodation 3500 FF



Deadline for Abstracts: 31/1/96

Email for Requests and Registration: lipinski@citi2.fr

Posted by: Peter Scambler Host: iron.hgmp.mrc.ac.uk date: December 23, 95 20:12:20
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