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On the 13th of February 2012, Dr. Hanno Jörn Bolz received the prestigious GEERS Foundation Award 2012. The award is endowed with 15,000€ and is granted for outstanding hearing research every 2 years; the Foundation promotes studies aimed at helping the hearing-impaired, in particular children. The Foundation Award has been granted since 1990 and is one of the most prestigious awards of its kind.
In collaboration with international partners, Hanno Bolz' team has identified a new syndrome - which is characterized by congenital deafness and cardiac arrhythmia - through the detection of mutations in the calcium channel Cav1.3.
Until now, only one disease with this unusual combination of symptoms was known: the Jervell and Lange-Nielsen syndrome.
More on the GEERS Foundation Award 2012...
Flashback on our former news about this discovery:
At the first glance, hearing and heart rhythm seem to be entirely unrelated processes. Now a recent study shows that there is a close functional link between the two.
The study, which has been the work of an international collaboration of researchers from Germany, Pakistan, Austria and France, was published online in the renowned Nature Neuroscience journal on December 5, 2010.
Read more...
The Press Release on Nature Neuroscience Online to the last Journal Highlights...
The Abstract...
Das Joubert-Syndrom ist ein angeborenes Fehlbildungssyndrom, das durch eine komplexe Hirnfehlbildung gekennzeichnet ist. Ein internationales Forscherteam um den Humangenetiker PD Dr. Hanno J. Bolz vom Institut für Humangenetik und PD Dr. Bernhard Schermer, Leiter des Nephrologischen Forschungslabors an der Uniklinik Köln, identifizierten und charakterisierten jetzt einen Defekt im Gen KIF7, der einen bisher unbekannten Pathomechanismus aufdeckt.
mehr...
The research project CraniRare (coordinated by our colleague Dr. Bernd Wollnik), has opened its own Web presence at http://www.cranirare.eu.
PD Dr. Christian Netzer and his colleagues from the Institute of Human Genetics at the University of Cologne together with a group of researchers from Radboud University Nijmegen Medical Center have discovered a responsible gene for osteogenesis imperfecta.
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PubMed PMID: 21353196
An international team of scientists led by Dr. Bernd Wollnik at the Center for Molecular Medicine Cologne (CMMC), Institute of Human Genetics and the Excellence Cluster (CECAD Cologne) at the University of Cologne has succeeded in deciphering a new and important factor in preserving the human DNA intact.
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PubMed PMID: 21131973
Prof. Dr. med. Christian Kubisch and his research group have recently identified – in a large international collaborative effort – the first genetic link for migraine.
This work has been published in the September Issue of the „Nature Genetics” Journal.
The official press release of the University of Cologne has promptly been mirrored by several online news ressources.
We congratulate our colleagues – who recently moved to the Institute of Human Genetics at the University of Ulm – for this major breaktrough.
As of 07/01/2010 we need a Referral Type 10 to execute genetic testing.
Please see here an example and some hints to fill out the form... (only German - not required for requests from abroad)
The paper PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome is recently been published in The Journal of Clinical Investigation and has been selected among the six best abstracts at The Congress of The European Society of Human Genetics in Gothenburg, Sweden to be presented in the "What's New Session".
The News Agencies are describing the impact of the discovery this way...