Our Latest Scientific News
Evidence for inflammation in Fabry’s disease? Headache and muscle involvement responding to corticosteroid and methotrexate treatment
We report the case of a 38-year-old female patient who had been diagnosed as lupus erythematosus because of generalized muscle and burning pain combined with slightly elevated C-reactive protein (CRP) and antinuclear antibodies (ANA) 1:640. Twelve years later, Fabry’s disease was diagnosed by molecular genetics. Lupus erythematosus and any other co-morbid rheumatologic diseases were falsified retrospectively and prospectively according to international classification criteria. This case illustrates, that in addition to the deposition of lyso-gb3 secondary inflammatory mechanisms may play an important role in the pathophysiology of symptoms in Fabry’s disease.
Posterior versus Anterior Circulation Stroke in Young Adults: A Comparative Study of Stroke Aetiologies and Risk Factors in Stroke among Young Fabry Patients
Although 20–30% of all strokes occur in the posterior circulation, few studies have explored the characteristics of patients with strokes in the posterior compared to the anterior circulation so far. Especially data on young patients is missing. In this secondary analysis of data of the prospective multi-centre European sifap1 study that investigated stroke and transient ischemic attack (TIA) patients aged 18–55 years, we compared vascular risk factors, stroke aetiology, presence of white matter hyperintensities (WMH) and cerebral microbleeds (CMB) between patients with ischaemic posterior circulation stroke (PCS) and those having suffered from anterior circulation stroke (ACS) based on cerebral MRI.
Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans
Global developmental delay (GDD), often accompanied by intellectual disability, seizures and other features is a severe, clinically and genetically highly heterogeneous childhood-onset disorder. In cases where genetic causes have been identified, de-novo mutations in neuronally expressed genes are a common scenario. These mutations can be best identified by exome sequencing of parent-offspring trios. De novo mutations in the guanine nucleotide-binding protein, beta 1 (GNB1) gene, encoding the Gβ1 subunit of heterotrimeric G proteins, have recently been identified as a novel genetic cause of GDD.
Dear Prof. Rolfs, ...
I want to thank you again for your support in our activity in rare disease field in Romania. It was a great meeting at Rare Disease Day symposium in Bucharest on 23th February. Centogene team participation contributed immensely to our event. It's amazing how much value you offered to our specialists looking to learn about rare diseases and new genomic technologies. Read more...
Romania, March 2017
Dear colleagues, ...
... the world's best laboratory Centogene!
Ukraine, December 2016
... for this success. The secret key of such achievement is the continuous unlimited help, collaboration, dedication and hard work from Centogene team. Special thanks to Daniel and Rami. Looking forward for more publications togother in the near future.
Riyadh, November 2016
I am an experienced neurogeneticist ...
and moved back to Lebanon from the US wanting to make a difference in the diagnosis, care and prevention of recurring neurogenetic disorders in the Lebanese. Alas, I was only partially successful, ... Read more
Lebanon, January 2016
Thank you ...
... very much for your unlimited help and support.
Saudi-Arabia, December 2015