Scientific Publications
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Large Patient Cohort Enables Insights into a Rare Disease
Farber disease (FD) is a severe disorder for which rarity has hampered a comprehensive understanding. A recent study on a large cohort of patients provides unprecedented novel insights into FD. The […]
Unlocking the Genetics of Seizures
Seizures are frequently rooted in a genetic factor, but many of the corresponding disorders are ultra-rare. A new study reports ADARB1 mutations in two families in which patients suffer from a severe […]
A Novel Disorder of Nerve Cell Communication
Proper development and function of nerve cells relies on communication by so-called neurotransmitters. Mutations in the GAD1 gene, which is involved in neurotransmitter synthesis, have now been found […]
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 […]
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 […]
Insights Into an Ultra Rare Disease
Rarity of a disease usually correlates with a limited understanding. Case reports about diagnosed patients are thus very important. A recent study based on genetic findings at CENTOGENE exemplifies […]