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The Victor A. McKusick Papers

Title:
[Program for course in medical genetics in Sestri Levante, Italy] pdf (116,052 Bytes) transcript of pdf
[Program for course in medical genetics in Sestri Levante, Italy]
Number of Image Pages:
2 (116,052 Bytes)
Date Supplied:
6-12 April 1988
Creator:
[European Genetics Foundation]
Source:
Original Repository: Alan Mason Chesney Medical Archives. Victor Almon McKusick Collection
Rights:
Reproduced with permission of Giovanni Romeo.
Subject:
Medical Subject Headings (MeSH):
Genetics, Medical
Exhibit Category:
Beyond the Clinic: Genetic Studies of the Amish and Little People, 1960-1980s
Unique Identifier:
JQBBJZ
Document Type:
Programs (documents)
Agendas (administrative records)
Language:
English
Format:
application/pdf
image/tif
Physical Condition:
Good
Transcript:
EUROPEAN SCHOOL OF MEDICAL GENETICS
SESTRI LEVANTE (Genoa), April 6-12 1988
PROGRAM
WEDNESDAY 6
8.30-12.30: V. A. McKusick (Baltimore): History of Medical Genetics:
an introduction to principles of human genetics
A. M. Frischauf (London): Introduction to molecular
genetics
G. Romeo (Genoa): DNA polymorphisms and disease
A. Cao (Cagliari) and S. Ottolenghi (Milano): Thalassemias
as a model of molecular disease
15.30-17.30 J. Ott (New York): Introduction to linkage
Workshop: pedigree analysis, use of computerized
programs (Linkage, OnLine Mendelian Inheritance in Man,
Genatlas)
18-18.30: Questions from students
18.30-20: T. Caskey (Houston): Lesch-Nyhan disease: Molecular
basis, neuropathology and mouse model
THURSDAY 7
8.30-12.30: Dalla Piccola (Rome): Methods of cytogenetic analysis
M. Ferguson-Smith (Cambridge): From chromosomal to
molecular mutations
C. Junien (Paris): Molecular characterization of
constitutional and acquired chromosomal rearrangements
M. Rocchi (Genoa): Cytogenetic methods for physical gene
mapping
15.30-17.30: Workshop on clinical cytogenetics
18-18.30: Questions from students
18.30-20: A. de la Chapelle (Helsinki), M. Ferguson-Smith
(Cambridge) and others: Clinical, cytogenetic and
molecular aspects of sex determination
FRIDAY 8
8.30-12.30: A. Piazza (Turin), M. Berg (Oslo) and A. Bowcock (Stanford):
Principles of population genetics (with particular
reference to linkage disequilibrium, association, etc.)
Different contributions to: Genetics and the environment
15.30-17.30: Workshop: problem solving session on population genetics
18-18.30: Questions from students
18.30-20: R. Norio (Helsinki): The Finnish disease heritage
G. Romeo (Genoa): Consanguinity and disease in Italy
SATURDAY 9
8.30-12.30: Session on linkage coordinated by J. Ott
M. Baur (Bonn): Computerized program for haplotype
reconstruction
J. Mohn (Copenhagen): Some highlights of linkage studies
in man
K. Berg (Oslo): Linkage and clinical variation of
inherited disorders
V. A. McKusick (Baltimore): The human genome (status of
the map)
Afternoon: Boat trip to Portofino (depending on weather conditions)
Evening: free
SUNDAY 10
8.30-12.30: A. M. Frischauf (London): The methods of reverse genetic
M. Bobrow (London): Duchenne muscular dystrophy
H. H. Ropers (Nijmegen): Myotonic dystrophy
G. Romeo (Genoa), J. Mohr (Copenhagen) and X. Estivill
(Barcelona): Review on cystic fibrosis research
15.30-17.30: Workshop on molecular genetics (I)
18-18.30: Questions from students
18.30-20: G. Andria (Catanzaro), A. Ballabio (Neaples), and
M. Ferguson-Smith (Cambridge): Molecular and clinical
aspects of steroid sulphatase deficiency
MONDAY 11
8.30-12.30: K. Berg (Oslo): Genetics of coronary heart disease and its
risk factors
G. Utermann (Innsbruck): Genes contributing to the
population variance of quantitative lipoprotein traits
and multifactorial hyperlipidemia
G. Bianchi (Milan): Essential hypertension in man and in
animal models
R. B. Barber (Milan): Selection and breeding of
hypertensive rats
A. Sidoli (Milan): Molecular genetics of hypertension
15.30-17.30: Workshop on molecular genetics II
18-18.30: Questions from students
18.30-20: T. Caskey (Houston): Gene Therapy
TUESDAY 12
8.30-12.30: Session on prenatal diagnosis coordinated by J. C. Kaplan
(with contributions from A. Cao (Cagliari), P. Durand
(Genoa), M. Cordone (Genoa) M. Lituania (Genoa) and
M. Pembrey (London)
15.30-17.30: R. Norio (Helsinki): Use of a manual data bank as a
diagnostic aid in clinical genetics
Workshop: use of a computerized program for syndromology
18-18.30: Questions from students
18.30-20: G. Bernardi (Paris): The organisation of the human genome
WEDNESDAY 13
Optional guided excursion to the Cinque Terre (train + walking)
Metadata Last Modified Date:
2009-03-17
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