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ESHG Award for Bernhard Horsthemke
(born 16.2.1953 in Ahlen, Westfalen)
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Laudatio by Han Brunner
The European Society of Human Genetics will present
this year its annual award to professor Bernhard Horsthemke
for his many important contributions to the understanding
of the molecular basis of human genetic diseases. Dr
Horsthemke and his group have uncovered the genetic
basis of the tricho-rhino-phalangeal syndrome, and hereditary
multiple exostosis, as well as contributing to our understanding
of retinoblastoma and uveal melanoma.
The work of Bernhard Horsthemke on microdeletion syndromes
has been especially important in elucidating the involvement
of imprinting in the Angelman and Prader-Willi syndromes.
Dr Horsthemke has published 50 scientific papers on
these syndromes alone, reflecting his dedication to
understanding them at the molecular level through careful
and often elegant molecular genetic experiments. These
relatively common mental retardation syndromes specifically
occur when the abnormal chromosome 15 is inherited from
the father (in Prader Willi syndrome), or from the mother
(Angelman syndrome). This curious dependence on the
sex of the parent transmitting the disease is termed
imprinting and the scientific community owes a great
deal to Dr. Horsthemke for his painstaking work in clarifying
this unusual genetic mechanism.
Over the past 15 years the work of Dr. Horsthemke and
his colleagues has allowed them to develop a rapid and
reliable genetic test for the Angelman and Prader-Willi
syndromes which is currently being used by many diagnostic
labs worldwide today. Of the greatest fundamental importance
is a paper from 1995 (Buiting et al. Nature Genetics
9:395-400, 1995) in which the authors describe the existence
of an imprinting centre on chromosome 15 that explains
this curious and previously unexplained effect of the
parental origin of the mutation.
A recent paper by Horsthemke and colleagues (Cox et
al. Am J Hum Genet: 71-162-164, 2002) suggested that
the risk of imprinting defects may be increased in children
born after intra-cytoplasmic sperm injection (ICSI).
This hypothesis has also attracted considerable attention
and is the focus of a number of ongoing studies worldwide.
In Dr. Horsthemke, the ESHG honours a scientist, whose
work proves that the natural qualities of a true scientist
are to be of unlimited curiosity and to keep asking
new questions even after working for many years on a
problem. Dr. Horsthemke is a role model for young European
scientists. It is for this combination of outstanding
scientific accomplishments and inspiration to others
that Dr. Horsthemke receives this year’s ESHG
award.
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