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Our Latest Scientific News
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Activation of PKC triggers rescue of NPC1 patient specific iPSC derived glial cells from gliosis
Niemann-Pick disease Type C1 (NPC1) is a rare progressive neurodegenerative disorder caused by mutations in the NPC1 gene. The pathological mechanisms, underlying NPC1 are not yet completely understood. Especially the contribution of glial cells and gliosis to the progression of NPC1, are controversially discussed. As an analysis of affected cells is unfeasible in NPC1-patients, we recently developed an in vitro model system, based on cells derived from NPC1-patient specific iPSCs.
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Reductions in glucosylsphingosine (lyso-Gb1) in treatment-naïve and previously treated patients receiving velaglucerase alfa for type 1 Gaucher disease
Gaucher disease (GD), an autosomal recessive lipid storage disorder, arises from mutations in the GBA1 (β-glucocerebrosidase) gene, resulting in glucosylceramide accumulation in tissue macrophages. Lyso-Gb1 (glucosylsphingosine,lyso-GL1), a downstream metabolic product of glucosylceramide, has been identified as a promising biomarker for the diagnosis and onitoring of patients with GD. This retrospective, exploratory analysis of data from phase 3 clinical trials of velaglucerase alfa in patients with type 1 GD evaluated the potential of lyso-Gb1 as a specific and sensitive biomarker for GD.
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C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease
Farber disease (FD) is a rare autosomal recessive disease caused by mutations in the acid ceramidase gene (ASAH1). Low ceramidase activity results in the accumulation of fatty substances, mainly ceramides. Hallmark symptoms at clinical level are periarticular nodules, lipogranulomas, swollen and painful joints and a hoarse voice. FD phenotypes are heterogeneous varying from mild to very severe cases, with the patients not surviving past their first year of life. This study has the highest number of enrolled Farber patients and carriers reported to present. Liquid chromatography multiple reaction mass spectrometry (LC/MRM-MS) studies revealed that the ceramide C26:0 and especially its isoform 1 is a highly sensitive and specific biomarker for FD (p < 0.0001). The new biomarker can be determined directly in the dried blood spot extracts with low sample consumption. This allows for easy sample preparation, high reproducibility and use in high throughput screenings.
Testimonials
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
Congratulation ...
... 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