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2014

We welcome our new Emmy Noether Groupleader Dr.med. Dipl. Chem. Sebahattin Cirak as new member in our Institute.

Dr. Cirak has been awarded by the Deutsche Forschungsgemeinschaft (DFG) the competitive and excellence Emmy Noether Group Award with 1.6 Million Euros over 5 years.  His group is highly founded by additional grants from foundations and industrial sponsors.

His new laboratories located in the Center for Molecular Medicine (CMMC) will focus mainly on three areas of research.

  1. Deciphering the genetic basis of muscular dystrophies.
  2. Understanding the molecular pathophysiology of muscular dystrophies.
  3. Development of innovative personalized treatment strategies based on RNA therapeutics (exon skipping) for muscular dystrophy.
Dr. Cirak has graduated in medicine and chemistry at the Johannes-Gutenberg Universität in Mainz/Germany. During his paediatric residency at University Childrens Hospital in Essen/Germany he got intrigued by the fact how little we knew about the genetic basis of neuromuscular disorders and that curative treatment options existed for these in many cases lethal disorders. Dr. Cirak spent 2 years at the Max Delbrück Gene Mapping Center in Berlin and has discovered new disease genes (Cirak at el., 2010, Brain). After the completion of his residency and defence of his doctoral thesis on the genetics of distal myopathies, he joined as senior clinical research fellow the Dubowitz Neuromuscular Center at UCL Institute of Child Health and Great Ormond Street Hospital in London/UK. During his 4.5 years as fellow Dr. Cirak has accomplished with the team at the Dubowitz Center several milestones in development of exon skipping treatments for Duchenne Muscular Dystrophy (Cirak et al. 2011, The Lancet) and has discovered several new disease genes. Dr. Cirak worked than in the last two years as assistant professor Childrens National Medical Center in Washington/DC and established his own research group.

With the new Emmy Noether Award and the unique interdisciplinary research environment at the CMMC and University of Cologne Dr. Ciraks group has all resources to make significant scientific contributions for the better understanding and treatment of muscular dystrophies.

 

Pflanzenextrakt bietet Hoffnung für Motoneuronenerkranung

Spinale Muskelatrophie (SMA) ist die häufigste genetische Kindestodesursache. In Deutschland leiden zurzeit etwa 2000 Personen an SMA. Bei etwa der Hälfte der Patienten ist die Krankheit so stark ausgeprägt, dass sie innerhalb der ersten beiden Lebensjahre versterben. Bisher gibt es keine Therapie für SMA. In einer internationalen Zusammenarbeit hat die Arbeitsgruppe um Prof. Brunhilde Wirth aus dem Institut für Humangenetik der Uniklinik Köln eine biologische Substanz identifiziert, die zukünftig als Therapeutikum eingesetzt werden könnte. Diese experimentelle Studie wurde nun (03.03.2014) im renommierten Journal of Clinical Investigation publiziert.

Uniklinik Köln - Aktuelles

 

2013

Neues Gen für Osteoporose gefunden

Osteoporose (Knochenschwund) gehört laut Weltgesundheitsorganisation (WHO) zu den zehn bedeutendsten Erkrankungen der Gegenwart. In Deutschland leiden etwa acht Millionen Menschen an einer Osteoporose. Das entspricht etwa zehn Prozent der Gesamtbevölkerung. Im Rahmen einer internationalen Zusammenarbeit hat die Arbeitsgruppe um Prof. Brunhilde Wirth aus dem Institut für Humangenetik der Uniklinik Köln ein neues Krankheitsgen identifiziert. Dieses Ergebnis wurde nun (02.10.2013) im New England Journal of Medicine publiziert.

PubMed PMID: 24088043

Uniklinik Köln - Aktuelles

 

EU-Projects on rare diseases: press conference

A press conference - January the 24th, 2013, 15:30 in Camp Nou, Barcelona - will celebrate the launch of a huge EU project for research and therapy of rare genetic diseases.

Prof. Dr. Brunhilde Wirth, Director of the Institute of Human Genetics, University of Cologne, Germany was chosen as Co-Coordinator within the subproject „Neuromics” .

The EU founding amounts to 38 million EUR.

Website Neuromics

 

2012

Prof. Dr. Hanno J. Bolz erhält den Frank-Majewski-Preis 2012

Am 19.10.2012 wurde Prof. Dr. Hanno J. Bolz, APL-Professor des Instituts für Humangenetik und stellvertretender ärztlicher Leiter des Zentrums für Humangenetik in Ingelheim, der Frank-Majewski-Preis für die von ihm geleitete Studie "Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics" verliehen. Nach längerer Unterbrechung wurde der Preis in diesem Jahr wieder vergeben, nun für eine hervorragende Publikation des Jahres 2011 mit klinisch-syndromologischem Schwerpunkt. Prof. Bolz nahm die Auszeichnung stellvertretend für alle Autoren der im Journal of Clinical Investigation publizierten Studie im Rahmen des Syndromtags der Akademie Humangenetik in Heidelberg entgegen. Die Gruppe hatte Mutationen in einem zentralen Element des Hedgehog-Signalwegs, dem ziliären Motorprotein KIF7, bei Patienten mit dem Joubert-Syndrom Typ 12 identifiziert und so einen neuen Pathomechanismus für die Erkrankung nachgewiesen.

PubMed PMID: 21633164

 

Dr. Bernd Wollnik - newly appointed Professor of Medical Genetics at the Institute of Human Genetics in Cologne

On 1st August 2012, Bernd Wollnik, former Junior Research Group Leader at the Center for Molecular Medicine Cologne, was appointed Professor of Medical Genetics at the Cologne Institute of Human Genetics. Our warmest congratulations to Bernd on this major achievement - we are looking forward to the changes that his appointment will bring.

Bernd has already mapped out his future goals: In cooperation with specialists from other departments, he intends to establish a Center for Rare Diseases at the University Hospital of Cologne. And, of course, he will continue to pursue his enthusiastic and exciting research and teaching activities. He is a very active member of the Cologne Cluster of Excellence in Cellular Stress Responses in Aging-associated Diseases (CECAD) and the Center for Molecular Medicine Cologne (ZMMK) and has been receiving substantial funds from the EU and the German Federal Ministry of Education and Research. His group with currently more than 10 members is conducting cutting-edge research focusing on the identification of novel causative genes and the elucidation of underlying pathomechanisms for craniofacial malformation syndromes, skeletal diseases, hearing loss and syndromes associated with early-onset ageing phenotypes.

 

We are proud to announce that our colleague Dr. Lutz Garbes won the Vienna Academy Award

at the ESHG Meeting 2012 in Nürnberg for his outstanding work on predicting the treatment response of valproic acid in central nervous system diseases: "VPA response in SMA is suppressed by fatty acid translocase CD36"

PubMed PMID: 23077215

 

Priv.-Doz. Dr. Christian Netzer erhält den Eva Luise Köhler Forschungspreis 2012

Am 28.02.2012 wurde Priv.-Doz. Dr. Christian Netzer in Berlin der Eva Luise Köhler Forschungspreis 2012 verliehen. Er erhielt den mit 50.000 Euro dotierten Preis für Seltene Erkrankungen gemeinsam mit Dr. Oliver Semler, Prof. Eckhard Schönau und Tanja Petersen (Klinik und Poliklinik für Kinder- und Jugendmedizin der Uniklinik Köln) für das Projekt „Translationale Therapie bei Osteogenesis Imperfecta”. Das Wissenschaftler-Team hat eine neue Form der Glasknochenerkrankung entdeckt und untersucht in dem Forschungsprojekt die Wirkung einer neuartigen medikamentösen Therapie.

 

Dr. Hanno Bolz receives the GEERS Foundation Award 2012

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.

 

2011

Priv.-Doz. Dr. Hanno J. Bolz: neues Gen und Pathomechanismus für das Joubert-Syndrom

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 Priv.-Doz. 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.

Pressemitteilung

 

New genetic cause of Osteogenesis Imperfecta detected by Exome sequencing

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.

Press release

PubMed PMID: 21353196