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Our Latest Scientific News
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Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia
The objective of this study is to define the clinical phenotype and natural history of sporadic adult-onset degenerative ataxia and to identify putative disease-causing mutations. The primary measure of disease severity was the Scale for the Assessment and Rating of Ataxia (SARA). DNA samples were screened for mutations using a high-coverage ataxia-specific gene panel in combination with next-generation sequencing. The analysis was performed on 249 participants. Our study provides quantitative data on the clinical phenotype and progression of sporadic ataxia with adult onset.
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Heart and nervous system pathology in compound heterozygous Friedreich ataxia
In a small percentage of patients with Friedreich ataxia (FA), the pathogenic mutation is compound heterozygous, consisting of a guanine–adenine–adenine (GAA) trinucleotide repeat expansion in one allele, and a deletion, point mutation, or insertion in the other. In 2 cases of compound heterozygous FA, the GAA expansion was inherited from the mother, and deletions from the father.
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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.
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