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2019

Markus Riessland, Anna Kaczmarek und Svenja Schneider from AG WIRTH were awarded the Medical Faculty Award of Science for the  “Best Publication 2017” at the graduation ceremony on January 11, 2019

Riessland M*, Kaczmarek A*, Schneider S*, Swoboda KJ, Löhr H, Brander C, Dimitriadi M, Hosseinibarkooie S, Peters M, Upadhyay A, Biglari N, Grysko V, Kröber S, Hölker I, Garbes L, Gilissen C, Hoischen A, Nürnberg G, Nürnberg P, Walter M, Rigo F, Bennett CF, Kye MJ, Hart AC, Hammerschmidt M, Kloppenburg P & Wirth B.
Neurocalcin delta suppression protects against spinal muscular atrophy in humans and across species by restoring impaired endocytosis.

Am J Hum Genet, 2017; 2. Feb. 100 (2): 297-315 (30 Zitationen in Google Scholar)

PubMed PMID: 28132687

 

2018

DAAD Prize for Tamás Schmidt

Tamás Schmidt, master student in the AG-Wirth and student in the biomedical engineering master program at Campus Jülich, was awarded the DAAD Prize for Outstanding Achievement of Foreign Students by the Rector of the FH Aachen, Prof. Dr. med. Marcus Baumann on 14.12.2018 .

We congratulate Tamás and are very proud of him.

Article

 

Genomics for the benefit of the patient

Wilhelm Vaillant Prize 2018 for Translational Research for Neurological Developmental Disorders

The Wilhelm Vailllant Prize, endowed with 30,000 euros, will be awarded in 2018 to Professor Christian P. Schaaf, Professor of Clinical Genomics at the University of Cologne and Head of Patient Care at the Institute of Human Genetics at the University Hospital of Cologne. He investigates the genetic causes of neurological and psychiatric diseases, in particular mental retardation and autism spectrum disorders. The award ceremony took place on 09.11.2018 in Munich.

Uniklinik Köln - Aktuelles

 

PhD student Charlotte Veltmann honoured

Faculty of Medicine presents Research Track Project Awards

Charlotte Veltmann, Charlotte Veltman, PhD student at the AG Wirth of the Institute of Human Genetics at the ZMMK, was awarded one of three Research Track Project Awards at the graduation ceremony of the Medical Faculty of the University of Cologne in mid-July, which are sponsored by the Förderkreis Medizin Köln e.V. (Cologne Medical Association). The prizes, each worth 3,000 euros, are intended to support promising doctoral theses. Veltman received the award for her intended doctorate on "Characterization of potential binding partners of Plastin 3, a modifier of spinal muscular atrophy". The aim of her project is to gain a better understanding of the mode of action of Plastin 3 - a protein that protects certain individuals from contracting the hereditary disease spinal muscular atrophy. She hopes to achieve this by analysing the protein's interaction partners.

CHP1: a novel protective gene for spinal muscular atrophy (SMA) - opens new therapeutic options

 

The research group of Prof. Dr. Brunhilde Wirth, Head of the Institute of Human Genetics at the University Hospital Cologne, succeeded to identify calcineurin-like EF-hand Protein 1 (CHP1) reduction as a novel protective modifier for the detrimental neurodegenerative disorder spinal muscular atrophy (SMA). The results of this study have been published 28.06.2018 in Brain, an international highly renowned journal.

Uniklinik Köln - Aktuelles

Brain

 

Prof. Dr. Christian Schaaf übernimmt neu geschaffen Lehrstuhl

We are happy to announce that Prof. Dr. Christian Patrick Schaaf joined our team at the Institute of Human Genetics on March 1, 2018. He serves as W3 Professor for Clinical Genomics and was recruited from Baylor College of Medicine in Houston, USA. We are delighted to welcome this highly qualified and very kind colleague at our institute.

Uniklinik Köln - Aktuelles

 

Mohsen S. Hosseinibarkooie receives the Medical Faculty Award of Science for the “Best Publication 2016”

CMMC - news

 

CHP1: a novel gene responsible for cerebellar ataxia

A collaborative effort between the research groups of Prof. Brunhilde Wirth at the Institute of Human Genetics (University Hospital of Cologne) and the Center of Molecular Medicine Cologne (CMMC) and Prof. Giovanni Stevanin at the Neurogenetics Institute of the French National Institute of Health and Medical Research (INSERM) succeeded to identify a novel mutation in the gene CHP1 as a novel cause of Cerebellar Ataxia. The study was recently published in the magazine Neurology Genetics, an official journal of the American Academy of Neurology.  

http://ng.neurology.org/content/4/1/e209

Uniklinik Köln - Aktuelles

 

2017

Vienna Medical Academy award

We congratulate Svenja Schneider, PhD student in the Wirth lab, for winning the competition among 58 young investigator award candidates selected for oral presentations at the ESHG meeting 2017 in Copenhagen. She received the Vienna Medical Academy (VMA) award for the best translational work on "Neurocalcin delta a protective modifier for spinal muscular atrophy: a full story from gene identification to therapy".


Watch die Video on you tube from minutes 18:21-20:50
https://www.youtube.com/watch?v=_oCrxGi5qdw&feature=youtu.be&list=PLW0cSUiBasEhZX1bsdy30v2XXtah-a6XO

 

Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome

The group of Prof. Brunhilde Wirth from Cologne together with the group of Prof. Henry Houlden from London identified mutations in the VAMP1 gene in people with a  new type of a chronic myasthenic syndrome. VAMP1 plays an important role in the docking of synaptic vesicles to the presynaptic plasma membrane. In normal condition, this triggers exocytosis and release of the neurotransmitter acetylcholine, which initiates muscle contraction. This mechanism is impaired in people with VAMP1 mutations. Importantly the genetic discovery allowed a specific therapy with pyridostigmine.

PubMed PMID: 28253535

Uniklinik Köln - Aktuelles

 

NCALD inhibition protects against spinal muscular atrophy: from gene to therapy

The research group of Professor Dr. Brunhilde Wirth at the Institute of Human Genetics (Univ. Hospital of Cologne) and the Center for Molecular Medicine Cologne (CMMC) has succeeded to identify Neurocalcin delta, a neuronal sensor protein as a protective modifier of spinal muscular atrophy. This work has been published in the prestigious American Journal of Human Genetics on January 26, 2017.

Uniklinik Köln - Aktuelles

Press release

Publikation http://dx.doi.org/10.1016/j.ajhg.2017.01.005

PubMed PMID: 28132687

 

2016

Disturbed proprioception by PIEZO2 causes a novel muscular atrophy disease

Muscular atrophy is the wasting of muscle mass leading to muscle weakness. Muscular atrophy occurs during immobilization, for example after a bone fracture, but may also have a genetic origin. Genes are blueprints of any organism and contain information of how muscles are build or how the brain can send orders for muscle contraction via nerve cells. Sequence errors in genes, called mutations, result in faulty construction plans leading to malfunctions. There is a great number of patients with inherited muscular atrophy, in which the disease-causing gene is unknown. The research group of Professor Brunhilde Wirth at the Institute of Human Genetics at the University Hospital of Cologne and the Center for Molecular Medicine Cologne (CMMC) has succeeded to identify mutations in a gene called PIEZO2 that cause a new type of muscular atrophy. The scientists now published their results in the renowned magazine The American Journal of Human Genetics.

Uniklinik Köln - Aktuelles

Press release

Article

PubMed PMID: 27843126

Free access to article (until 23.12.2016)

 

Novel therapeutic options for spinal muscular atrophy by unraveling the cellular mechanism of SMA

Spinal muscular atrophy (SMA) is the most common genetic cause of death in childhood. About 30,000 people with SMA are currently living in Europe and the US. In about half of the individuals with SMA, the disease causes dead within the first two years of life. So far, there is no cure for SMA. The research group led by Professor Wirth at the Institute of Human Genetics at the University Hospital of Cologne succeeded in discovering a cellular mechanism of SMA. The results were published in the prestigious scientific magazine The American Journal of Human Genetics.

Uniklinik Köln - Aktuelles

Press release

Highlight and FREE featured article AJHG

PubMed PMID: 27499521

 

Gene defect causes polyhydramnions with prematurity

Pregnancies can be complicated by severe polyhydramnios and prematurity. Dr. Bodo Beck and his colleagues from the Institute of Human Genetics at the University of Cologne found that MAGED2 mutations caused X-linked polyhydramnios with prematurity and a severe but transient form of antenatal Bartter's syndrome. MAGED2 is essential for fetal renal salt reabsorption, amniotic fluid homeostasis, and the maintenance of pregnancy.

PubMed PMID: 27120771

Press release