News - Recognition
for advances in genetics of epilepsy
13 December 2005
An Australian researcher, Professor Sam
Berkovic, has been awarded the prestigious
Zülch Prize for his groundbreaking
work on the genetic basis of epilepsy. Professor
Berkovic is the director of the Epilepsy
Research Centre at the University of Melbourne.
It is now accepted that many types of epilepsy
are the result of inherited changes in ion
channels. These channels regulate the flow
of certain chemicals into and out of brain
cells. They often only let through a single
type of ion. Sodium, potassium and chloride
ion channels all exist. Most ion channels
can be blocked in order to create specific
conditions inside the neurone.
Changes in the genes that control the formation
and distribution of these ion channels can
therefore fundamentally alter the way brain
cells communicate. A number of these changes
are known to underlie a newly-identified
group of epilepsies called channelopathies.
Professor Berkovic's work with colleagues
at the Women's and Children's Hospital in
Adelaide led to the discovery of a number
of new inherited epilepsy syndromes. He
studied more than 300 twins with epilepsy
(both identical and fraternal) and large
families containing several members with
epilepsy. He and his colleagues were the
first to prove that many types of epilepsy
have a significant genetic component.
This work has changed the way these epilepsies
are diagnosed and treated. Researchers around
the world are now working to identify which
genes are involved in channelopathies, and
to develop new drugs based on the ion channel
concept.
The genetic component in epilepsy is therefore
a hot research topic at present. The next
Epilepsy Research Foundation Expert International
Workshop will focus on this area and will
be held in March 2006. The workshop will
provide an arena for a full, expert and
in-depth look at an area of research which
has advanced very quickly in recent years.
What effect will our growing knowledge of
the human genome have on our understanding
and treatment of epilepsy? What are the
ethical implications of genetic research
in epilepsy? These and other questions including
clinical and basic scientific aspects of
the genetics of epilepsy will be discussed.
The Zülch Prize is awarded annually
by the Max
Plank Society of Germany for outstanding
achievements in basic neurological research.
It is worth €50,000 and is shared between
two scientists. Professor Berkovic shares
the 2005 award with Professor Christian
Elger of the University of Bonn, in recognition
for his work on neurological aspects of
epilepsy.
