Nerve cells have a uniquely large surface-to-volume ratio, suggesting a central role for proper membrane turnover in these cells. A recent study confirmed this paradigm by showing that a membrane fusion protein is mutated in patients with a novel form of ataxia. These findings, which critically relied on genetic insights provided by CENTOGENE, were published in BRAIN, one of the leading neurological journals.
Repeat expansions are the cause of Huntington’s disease and several forms of ataxia. The affected repeat units are usually three to six nucleotides in length, and pathogenic alleles have accumulated at least several dozen units. In a newly described neurological disorder, a single extra unit of a 10-nucleotide repeat is sufficient to cause disease. The study in which CENTOGENE contributed significant insights was published in the highly prestigious journal Brain.
Repeat expansions are the cause of Huntington’s disease and several forms of ataxia. The affected repeat units are usually three to six nucleotides in length, and pathogenic alleles have accumulated at least several dozen units. In a newly described neurological disorder, a single extra unit of a 10-nucleotide repeat is sufficient to cause disease. The study in which CENTOGENE contributed significant insights was published in the highly prestigious journal Brain.
Proper splicing of mRNA requires certain DNA sequence motifs. Since these motifs are very diverse, the effects of variants in them are not easy to predict. By combining CENTOGENE’s genetic testing with the histology of patient samples, an unusual intronic variant was recently revealed to be clearly pathogenic by disrupting a splice donor motif. The findings were published in Molecular Genetics & Genomic Medicine.
Proper splicing of mRNA requires certain DNA sequence motifs. Since these motifs are very diverse, the effects of variants in them are not easy to predict. By combining CENTOGENE’s genetic testing with the histology of patient samples, an unusual intronic variant was recently revealed to be clearly pathogenic by disrupting a splice donor motif. The findings were published in Molecular Genetics & Genomic Medicine.
The interpretation of newly observed genetic variants that are suspected to cause disease requires knowledge about their occurrence in different populations. CENTOGENE’s uniquely rich and diverse database – CentoMD® – is frequently encountered by academic consortia in need of such information. A recent example of this type of collaboration with the scientific community enabled the discovery of a new cause of inherited deafness. The findings were published in Human Genetics.
The interpretation of newly observed genetic variants that are suspected to cause disease requires knowledge about their occurrence in different populations. CENTOGENE’s uniquely rich and diverse database – CentoMD® – is frequently encountered by academic consortia in need of such information. A recent example of this type of collaboration with the scientific community enabled the discovery of a new cause of inherited deafness. The findings were published in Human Genetics.
Development of the nervous system is a complex process, with NEUROG1 being one out of many genes involved. The critical role of this gene was recently confirmed by CENTOGENE, when a patient with disturbed neurodevelopment was observed as having the gene knocked out. The finding was published in Clinical Genetics.
Development of the nervous system is a complex process, with NEUROG1 being one out of many genes involved. The critical role of this gene was recently confirmed by CENTOGENE, when a patient with disturbed neurodevelopment was observed as having the gene knocked out. The finding was published in Clinical Genetics.
While most genetic disorders progress from mild to severe, a certain form of muscle disease was suggested to represent an exception. However, this was based on observations in only two patients. As a result of identifying three additional patients, scientists at CENTOGENE have now been able to confirm the unusual phenomenon of genetically determined symptoms improving over time. A study outlining these findings was published in Clinical Genetics.
While most genetic disorders progress from mild to severe, a certain form of muscle disease was suggested to represent an exception. However, this was based on observations in only two patients. As a result of identifying three additional patients, scientists at CENTOGENE have now been able to confirm the unusual phenomenon of genetically determined symptoms improving over time. A study outlining these findings was published in Clinical Genetics.
Most studies that report novel gene-disease associations lack functional insights. A recent exception is a high impact paper on a skeletal dysplasia caused by recessive variants in SCUBE3. In a global collaborative effort involving researchers from CENTOGENE, a specific signaling pathway could be linked to the observed growth defects. The findings were published in the American Journal of Human Genetics.
Most studies that report novel gene-disease associations lack functional insights. A recent exception is a high impact paper on a skeletal dysplasia caused by recessive variants in SCUBE3. In a global collaborative effort involving researchers from CENTOGENE, a specific signaling pathway could be linked to the observed growth defects. The findings were published in the American Journal of Human Genetics.
Intellectual disability (ID) is amongst the most frequent symptoms of syndromic genetic disorders. Analyzing a multi-generational family, CENTOGENE identified a homozygous nonsense variant in TRAPPC9 causing a form of ID that is associated with autism. The findings were published in Meta Gene.
Intellectual disability (ID) is amongst the most frequent symptoms of syndromic genetic disorders. Analyzing a multi-generational family, CENTOGENE identified a homozygous nonsense variant in TRAPPC9 causing a form of ID that is associated with autism. The findings were published in Meta Gene.
Based on their size and inability to renew, nerve cells are highly vulnerable to defects in many cellular processes, including the translation of mRNA. A recent study involving several researchers from CENTOGENE further emphasizes the importance of proper mRNA translation for neuronal survival.
Based on their size and inability to renew, nerve cells are highly vulnerable to defects in many cellular processes, including the translation of mRNA. A recent study involving several researchers from CENTOGENE further emphasizes the importance of proper mRNA translation for neuronal survival. These insights were published in Annals of Neurology, one of the most prestigious journals in the field.
A pertinent success story in global rare disease collaboration, in which >50 partners, including CENTOGENE, joined forces to address an X-linked syndrome, was recently published in Genetics in Medicine.
Certain genetic disorders are too rare to be investigated in several patients by single centers. Uniform scientific descriptions thus require global collaborations. A pertinent success story, in which >50 partners, including CENTOGENE, joined forces to address an X-linked syndrome, was recently published in Genetics in Medicine.
Schuurs-Hoeijmakers syndrome is one of the few inherited disorders that have been associated with only a single genetic variant. A recent study describes 16 pertinent patients, most of whom were identified by CENTOGENE and was published in the American Journal of Medical Genetics.
Schuurs-Hoeijmakers syndrome is one of the few inherited disorders that have been associated with only a single genetic variant. A recent study describes 16 pertinent patients, most of whom were identified by CENTOGENE. This significant extension of the knowledge around Schuurs-Hoeijmakers syndrome was published in the American Journal of Medical Genetics.
Slowly progressive health issues in the elderly are usually equated to a general age-related decline. In some patients, however, these health issues may be manifestations of late onset genetic disorders. A recent study, which was co-authored by researchers from CENTOGENE, supports this view by identifying genetic etiologies in a surprisingly large fraction of elderly patients with neuropathies. The findings were published in Neurology.
Slowly progressive health issues in the elderly are usually equated to a general age-related decline. In some patients, however, these health issues may be manifestations of late onset genetic disorders. A recent study, which was co-authored by researchers from CENTOGENE, supports this view by identifying genetic etiologies in a surprisingly large fraction of elderly patients with neuropathies. The findings were published in Neurology.
Defects in many X-chromosomal genes are known to cause neurodevelopmental problems in males. A further example was recently identified at CENTOGENE when conducting an depth investigation of 13 affected males from a multi-generational family. This revealed OTUD5 as a novel gene associated with an X-chromosomal neurological disease. The findings were published in Clinical Genetics.
Defects in many X-chromosomal genes are known to cause neurodevelopmental problems in males. A further example was recently identified at CENTOGENE when conducting an depth investigation of 13 affected males from a multi-generational family. This revealed OTUD5 as a novel gene associated with an X-chromosomal neurological disease. The findings were published in Clinical Genetics.
The nervous system is particularly vulnerable to genetic defects, and novel pertinent gene-disease associations are still being discovered. A recent example is the link between impaired neurodevelopment and recessive loss-of-function variants in the gene NEMF. Two of the five families that are described in a paper published in Human Genetics were identified at CENTOGENE.
The nervous system is particularly vulnerable to genetic defects, and novel pertinent gene-disease associations are still being discovered. A recent example is the link between impaired neurodevelopment and recessive loss-of-function variants in the gene NEMF. Two of the five families that are described in a paper published in Human Genetics were identified at CENTOGENE.
A neurodegenerative disorder may affect distinct types of nerve cells in a patient-specific manner, which suggests a continuum of possible pathologies. A recent case report, based on a genetic diagnosis established at CENTOGENE and published in Parkinsonism and Related Disorders, discusses this phenomenon for ATP13A2.
A neurodegenerative disorder may affect distinct types of nerve cells in a patient-specific manner. This suggests that there is actually a continuum of possible pathologies. A recent case report, which was based on a genetic diagnosis established at CENTOGENE, discusses this phenomenon for ATP13A2. It was published in Parkinsonism and Related Disorders.
