Centogene’s latest Scientific Publications
Expanding the Genetics of Impaired Neurodevelopment
The nervous system is particularly vulnerable to genetic defects, and novel pertinent…
A Novel Therapeutic Concept for Fabry Disease
Fabry disease is caused by mutations that affect the lysosomal enzyme α-galactosidase, but…
Novel Genetic Cause for Absence of Kidneys
Renal defects are rather common in inherited disorders, while absence of kidneys is very…
Characterizing a Rare Disease Through a Global Effort
In the rare disease field, the compilation of large patient cohorts is a challenge, but…
Recognition of CENTOGENE’s Scientific Expertise
Editorial board members in scientific journals are selected from the most-respected…
A Potential Link Between COVID-19 and Parkinson’s Disease
The potential consequences of a SARS-CoV-2 infection are only beginning to be understood.…
Genetics and Pathophysiology of Premature Aging
Progeria, the phenomenon of premature aging, is an ultra-rare genetic condition. A recent…
One Gene – Two Mutational Mechanisms
For a few genes, mono-allelic gain-of-function mutations as well as bi-allelic…
A Variant-Specific Mutational Effect
A given genetic disorder is usually associated with numerous distinct mutations in the…
Underlining the Diagnostic Superiority of Genome Sequencing
Technological options for genetic diagnostics have evolved rapidly, with genome sequencing…