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Prof. Veronica Van Heyningen, Edinburgh
President ESHG
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A continuous theme of this year’s conference
is the elucidation of the myriad different ways in which
genetic changes can cause disease. These diseases are
often very rare, but the mechanisms are frequently relevant
to much more common diseases. When a machine –
the body – is running smoothly it is difficult
to understand how the mechanism works. When things go
wrong it is relatively easier to dissect how the machine
has failed. That is why genetics is such an important
tool for understanding biology.
Here we are discussing human genetic mechanisms, but
the appreciation of the unity of biology has been one
of the major surprises and delights of the genomic era,
and some of that is strongly reflected in several talks
at this meeting. The detailed, often computer-based,
study of genome architecture has given us important
insight into how chromosomal abnormalities, often cryptic,
can arise and how genomes evolve – as we will
hear from James Lupski (in Plenary talk L08). Some of
these features cause very small, invisible deletions
which can lead to disease. New methods using microarrays
are being developed to search for such deletions (Anita
Rauch C39) in previously unexplained birth defects,
including often mental retardation. Similar microarrays
are also used for studying gene expression in tumours
such as the childhood Wilms tumour (C43 and C44) and
these analyses can help develop prognostic techniques
to optimise tumour treatment.
Now that the genome is more or less fully available,
at least as a string of 6 billion letters (3 billion
from each parent, a 3 and 9 zeros,), we are in a better
position to look for variation that may be associated
with predisposition to more complex common diseases,
the development of which is influenced by many genes,
as well as environmental factors and probably also by
chance. Such diseases include asthma and eczema, the
frequency of which is unaccountably increasing in our
populations. Bill Cookson (speaker S6, in a symposium
on common diseases) won’t mind my saying that
he has been working for quite a few years trying, with
increasing success, to identify some of the more major
genes which function differently in people with asthma.
Other ideas that have been around for some time but
are now gaining further credence include the concept
that fetal nutrition might influence the types of diseases
we succumb to in adult life – we hear more about
this and possible links to subtle alteration of genomic
organisation, from Randy L. Jirtle (speaker S9 in a
symposium on model organisms).
The wealth of variation in the human population is
an important feature to ensure the survival of our and
other species, as conditions change: we hear from Suzanne
Rutherford (S28) about mechanisms which can help hide
and buffer some of this variation normally. However,
we have to be ready to deal with variation in our responses
to drug treatment and that is a new area that is now
being increasingly explored by the pharmaceutical industry
for example – this is discussed by Karl Lindpaintner
(S19).
Finally, this meeting is actually two over-lapping
and intertwined meetings, and you will have noted that
we have many sessions which discuss how individuals
and societies deal with the impact of all this new knowledge
and again variation is one of the recurrent themes:
Segolene Ayme (L04) will discuss the variation in genetic
testing and counselling around Europe. And we have a
whole symposium tomorrow afternoon (Talks S1, S2, S3)
on how people manage when the genetic risk of sudden
cardiac death has been identified in their families.
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Pressekontakt
Dr. rer. biol. hum. Christine Scholz
Deutsche Gesellschaft für Humangenetik e.V.
Inselkammerstr. 5
82008 München-
Unterhaching
Tel. (0)89/61 45 69 59
Fax (0)89/55 02 78 56
Email presse@gfhev.de
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