3+ 4/2002 - Společnost pro pojivové tkáně

KONFERENCE ● CONFERENCE
10th INTERNATIONAL CONGRESS OF HUMAN
GENETICS AUSTRIA CENTRE
VIENNA, AUSTRIA, MAY 15 – 19, 2001
ORGANISED ON BEHALF OF THE INTERNATIONAL
FEDERATION OF HUMAN GENETICS SOCIETIES
BY THE EUROPEAN SOCIETY OF HUMAN
GENETICS (ECHG)
STROUHAL E.
V květnu 2001 proběhl v sousedství
a v blízkosti vídeňského sídla OSN 10.
celosvětový kongres lidské genetiky,
sdružující zástupce genetických společností
z Evropy a ze zámoří. Jednání probíhalo
v obrovském konferenčním centru.
SELECTED ABSTRACTS FROM
PLENARY SESSIONS
PROTEIN STRUCTURES, INHERITED
MUTATIONS AND DISEASES
J.M.Thornton, London
The mechanismus whereby inherited
DNA mutations cause disease are only
beginning to be understood.These are best
understood in the context of knowledge of
the three dimensional structure of the relevant
protein. Therefore to improve our
understanding of the molecular basis of
inherited diseases we have mapped the disease
related mutations annotated in the
OMIM base onto protein structural data,
Ústav dějin medicíny I. LF UK, Kateřinská 32, Praha 2
when available. I will present preliminary
review of the relationship between protein
sequence, structure, function and disease,
highlighting specific examples to illustrate
our observations.
HAS GENE DETECTION BENEFITED
THE CANCER PATIENT ?
A de la Chapelle, Ohio
Ideally, the detection of a gene whose
mutations contribute to cancer should lead
to the development of a drug or procedure
that cures or prevents that cancer. So far,
this sequence of events has occured
extremely rarely. Over 40 years ago a specific
marker, the Philadelphia chromosome
was found. Over 25 years ago the Ph1 was
found to be caused by a translocation. Over
10 years ago the translocation was found to
lead to the fusion of two genes creating
ahyperactive tyrosine kinase. In a focused
effort to provide an antidote to this kinase,
hundreds or thousands of small – molecule
compounds were tested by a drug compa-
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