Scientific Publications
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Successful Monitoring of Gaucher Disease
Biomarkers are key tools in establishing a diagnosis and monitoring rare disorders. The lipid metabolite Lyso-Gb1 has long been known as an excellent diagnostic biomarker. In a recent study, which […]
Testing of Novel Treatment Options for Niemann-Pick Disease
The search for causative treatments continues to be a leading challenge in rare disease research. Using varying models, researchers recently investigated the potential effects of a novel candidate […]
Revealing Genetic Causes of Parkinson’s Disease
Certain variants in LRRK2 have been associated with Parkinson’s disease. While much is known about this association for some variants, knowledge is still sparse for others. In the frame of a […]
A New Phenotype for a Known Neurological Disorder
Hereditary disorders of the nervous system may present with a wide spectrum of symptoms. Bi-allelic mutations in GBA2, classically associated with abnormal gait, have recently been found to also […]
Novel Causes for Heart Malformations
An ever-increasing number of genes have been linked to heart malformations. For ADAMTS19, the most recent addition to this list, a querying of CENTOGENE’s well-curated database - CentoMD® - […]
Manifestation and Progression of an Ultra-Rare Disorder
Rarity is a major obstacle for comprehensively understanding certain genetic disorders, and thus the availability of case reports is critical. The disease course of a patient, who had been diagnosed […]
Clinical Expertise in Genetic Disorders
The fact that many lysosomal storage disorders may have a neurological component is incompletely understood. Clinical studies on this topic therefore require clear definitions of eligible patient […]
Consanguinity and Recessive Disorders
High consanguinity is associated with a high prevalence of recessive genetic disorders. CENTOGENE recently contributed to a study which confirmed this notion in Arab communities in Israel. Whole […]
Genetics of the Blood-Brain Barrier
Proper function of the blood-brain barrier relies on the so-called tight junctions. In four families, one of which was identified at CENTOGENE, mutations in the tight junction-encoding gene JAM2 were […]