Brain development is a highly complex process involving numerous proteins. The latest addition to this list is YIF1B: its absence due to bi-allelic inactivating mutations results in a severe neurological disorder.
Brain development is a highly complex process involving numerous proteins. The latest addition to this list is YIF1B: its absence due to bi-allelic inactivating mutations results in a severe neurological disorder.
The etiology of seizures is highly heterogeneous and involves an unknown number of distinct genetic disorders. An international team of researchers recently defined recessive mutations in the UGDH gene as a novel and surprisingly frequent cause of seizures and developmental delay.
The etiology of seizures is highly heterogeneous and involves an unknown number of distinct genetic disorders. An international team of researchers recently defined recessive mutations in the UGDH gene as a novel and surprisingly frequent cause of seizures and developmental delay. By querying its data repository of rare diseases ─ CentoMD®, CENTOGENE contributed several cases to the study, which was published in Nature Communications.
Germline and somatic DNA alterations may cause inherited diseases and/or cancer. While CENTOGENE’s routine diagnostic focus is on the former, we frequently address oncological questions in research settings. Deep sequencing of colorectal tumors in one such project provided unprecedented insights into the evolution of this type of cancer. The findings were recently published in Modern Pathology.
Germline and somatic DNA alterations may cause inherited diseases and/or cancer. While CENTOGENE’s routine diagnostic focus is on the former, we frequently address oncological questions in research settings. Deep sequencing of colorectal tumors in one such project provided unprecedented insights into the evolution of this type of cancer. The findings were recently published in Modern Pathology.
Novel gene-disease associations are continuously being proposed, but the underlying evidence is frequently based on only a few patients from a single family. CENTOGENE’s focus on rare disease diagnostics has enabled us to internally confirm many pertinent observations. For a rare form of intellectual disability, we recently reported our corresponding clinical genetic data in the European Journal of Human Genetics.
Novel gene-disease associations are continuously being proposed, but the underlying evidence is frequently based on only a few patients from a single family. CENTOGENE’s focus on rare disease diagnostics has enabled us to internally confirm many pertinent observations. For a rare form of intellectual disability, we recently reported our corresponding clinical genetic data in the European Journal of Human Genetics.
Essential proteins are defined as those that are necessary for living. In theory, homozygous loss-of-function variants that only affect certain isoforms may still be found in living individuals. A recent study involving patients that were identified at CENTOGENE presents one of the first examples of a disease-relevance of this rare constellation. It was published in the highly prestigious journal, Acta Neuropathologica.
Essential proteins are defined as those that are necessary for living. In theory, homozygous loss-of-function variants that only affect certain isoforms may still be found in living individuals. A recent study involving patients that were identified at CENTOGENE presents one of the first examples of a disease-relevance of this rare constellation. It was published in the highly prestigious journal, Acta Neuropathologica.
Alternative splicing of genes usually generates several isoforms. These may code for slightly differing proteins, the disease relevance of which is often not clear. Researchers from CENTOGENE, by reporting a representative example, emphasized the resulting challenges in a recent study. They published their findings in the Journal of Human Genetics.
Alternative splicing of genes usually generates several isoforms. These may code for slightly differing proteins, the disease relevance of which is often not clear. Researchers from CENTOGENE, by reporting a representative example, emphasized the resulting challenges in a recent study. They published their findings in the Journal of Human Genetics.
A profound understanding of rare genetic disorders relies on the description of large numbers of patients. Based on its unique positioning in the rare disease field, CENTOGENE can significantly contribute on multiple levels. This is exemplified by a recent corresponding study in the Journal of Neurology.
A profound understanding of rare genetic disorders relies on the description of large numbers of patients. Based on its unique positioning in the rare disease field, CENTOGENE can significantly contribute on multiple levels. This is exemplified by a recent corresponding study in the Journal of Neurology.
Many proteins are crucial for proper brain development. By showing that certain neurodevelopmental defects are associated with mutations in TMX2, this study adds an enzyme of the redox signaling pathway to the list of vital proteins. These findings, which were partially based on data generated at CENTOGENE, were published in the American Journal of Human Genetics.
Many proteins are crucial for proper brain development. By showing that certain neurodevelopmental defects are associated with mutations in TMX2, this study adds an enzyme of the redox signaling pathway to the list of vital proteins. These findings, which were partially based on data generated at CENTOGENE, were published in the American Journal of Human Genetics.
Costs for genetic testing correlate with comprehensiveness of the tests applied. Clinical exome sequencing (CES) represents an intermediate-cost and intermediate-comprehensiveness option.
Costs for genetic testing correlate with comprehensiveness of the tests applied. Clinical exome sequencing (CES) represents an intermediate-cost and intermediate-comprehensiveness option. In a recent study on 88 children that had been referred to CENTOGENE because of severe neurological phenotypes, CES was found to yield positive or potential diagnoses in >50% of cases. The finding was published in Journal of Child Neurology.
Lipid metabolism is crucially involved in embryonic development, and recent research uncovered yet another link.
Lipid metabolism is crucially involved in embryonic development, and recent research uncovered yet another link. Genetic screening revealed that inactivation of the enzyme sphingomyealinase-3 results in prenatal abnormalities, and in vitro studies defined the underlying pathophysiology. The study, to which CENTOGENE contributed significant genetic data, was published in the highly prestigious American Journal of Human Genetics.
Heart disease is a clinically and genetically diverse condition. In two siblings with a fatal outcome, compound heterozygosity for variants in the ASNA1 gene was identified as the only plausible cause upon exome sequencing at CENTOGENE.
Heart disease is a clinically and genetically diverse condition. In two siblings with a fatal outcome, compound heterozygosity for variants in the ASNA1 gene was identified as the only plausible cause upon exome sequencing at CENTOGENE. Functional data that were contributed by academic collaborators further supported causality of the variants. The new gene-disease association was published in Circulation – Genomic Precision Medicine.
Fetal exome sequencing (fES) has been available for some time, but systematic analyses of the outcome are scarce.
Fetal exome sequencing (fES) has been available for some time, but systematic analyses of the outcome are scarce. Based on a series of cases evaluated at CENTOGENE, diagnostic yield of fES was found to be impacted by (i) presence of ultra-sound abnormalities, (ii) positive family history, and (iii) involvement of certain organs. The study was published in the online journal Frontiers in Genetics.
Neurodevelopmental defects are genetically very diverse, and novel corresponding disease genes continue to be discovered. A recent example is the association between PIGB inactivation and a congenital neuro-metabolic syndrome. The study, which partially built on analyses performed at CENTOGENE, was published in the August issue of American Journal of Human Genetics.
Numerous genes are important for proper development of the nervous system. As part of an international research team, researchers at CENTOGENE contributed to the identification of a novel cause for impaired neurodevelopment.
Numerous genes are important for proper development of the nervous system. As part of an international research team, researchers at CENTOGENE contributed to the identification of a novel cause for impaired neurodevelopment. They identified mutations in SVBP, the protein product of which is responsible for maintaining microtubule plasticity. These findings were published in Human Molecular Genetics.
Many of the as yet undescribed genetic disorders are ultra-rare. Identification of novel gene-disease associations thus relies on well-curated clinical-genetic data such as contained in CENTOGENE’s proprietary database CentoMD®. In a pertinent recent research project, CentoMD® was used to unravel a novel cause of neurodevelopmental delay. The findings were published in the prestigious American Journal of Human Genetics.
Many of the as yet undescribed genetic disorders are ultra-rare. Identification of novel gene-disease associations thus relies on well-curated clinical-genetic data such as contained in CENTOGENE’s proprietary database CentoMD®. In a pertinent recent research project, CentoMD® was used to unravel a novel cause of neurodevelopmental delay. The findings were published in the prestigious American Journal of Human Genetics.
