Scientific Publications
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Elucidating the Mechanisms That Underlies Genetic Parkinson’s Disease
The mechanisms by which GBA1 mutations cause Parkinson’s Disease (PD) are incompletely understood. Supported by the Michael J Fox Foundation, CENTOGENE generated corresponding insights for an unusual […]
Two Distinct Disorders Resulting From Mutations in One Gene
Mutations in a given gene are usually associated with a single genetic disorder. Combined analysis of published case reports and data from CENTOGENE’s uniquely large database revealed that the NTRK2 […]
Better Understanding of a Novel Form of Monogenic Parkinson’s Disease
The link between the RAB32 gene and Parkinson’s Disease (PD) has been established only recently; it is not yet fully understood. CENTOGENE’s researchers thus analyzed relevant data from the company’s […]
Pilot Observations From a Large Genetic Screening Study
Comprehensive understanding of a rare disorder requires the identification of a large number of patients. CENTOGENE has been running a pertinent screening study for Hereditary Transthyretin-Related […]
Innovative Treatment of a Severe Disease
Exploratory innovative treatments are often pursued and justified in diseases that are associated with fatal outcomes in early childhood. CENTOGENE is proud to have contributed to a pertinent success […]
Increasing Disease Insights by Describing Large Patient Cohorts
A deep understanding of a specific rare disorder is usually hampered by the small size of available patient cohorts. CENTOGENE was able to leverage its Biodatabank to overcome this obstacle for […]
Defining the Clinical Spectrum of Rare Disorders
Many rare disorders, despite being considered syndromic, may manifest with only a single clinical symptom. A CENTOGENE-led epidemiological clinical study provided impressive evidence for the […]
Linking Seizures and Amino Acid Homeostasis
Seizures are part of the phenotypic spectrum in numerous rare disorders, but the underlying pathophysiology is rarely understood. For a novel seizure syndrome, the transmembrane transport of certain […]
Working Towards a Better Understanding of Parkinson’s Disease
Detailed characterization of large patient cohorts in a uniform manner is critical for gaining therapeutically relevant insights into rare diseases. CENTOGENE is a major stakeholder in the LIPAD […]