Centogene’s latest Scientific Publications
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…
Mechanistic Insights Into Cancer Predisposition
Genetic predisposition to cancer is tightly linked to an increased rate of somatic…
Understanding Parkinson’s Disease on a Global Scale
Current insights into Parkinson’s disease (PD) are largely based on studies in Europe and…
Large Patient Cohort Enables Insights into a Rare Disease
Farber disease (FD) is a severe disorder for which rarity has hampered a comprehensive…
Unlocking the Genetics of Seizures
Seizures are frequently rooted in a genetic factor, but many of the corresponding…
A Novel Disorder of Nerve Cell Communication
Proper development and function of nerve cells relies on communication by so-called…
Epidemiology of a Rare Protein Aggregation Disorder
Some genetic disorders are caused by an accumulation of the mutated protein, with…