Scientific Publication 

Characterizing a Rare Disease Through a Global Effort

Author(s): Ebrahimi-Fakhari, Darius

In the rare disease field, the compilation of large patient cohorts is a challenge, but necessary for understanding a disease and eventually enabling clinical trials. CENTOGENE therefore happily participated in a corresponding effort that focuses on the rare neurodegenerative disorder AP4-deficiency syndrome. The first insights from this global initiative were published in Brain, one of the leading neurological journals.

In the rare disease field, the compilation of large patient cohorts is a challenge, but necessary for understanding a disease and eventually enabling clinical trials. CENTOGENE therefore happily participated in a corresponding effort that focuses on the rare neurodegenerative disorder AP4-deficiency syndrome. The first insights from this global initiative were published in Brain, one of the leading neurological journals.


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