Immune dysregulation caused by homozygous mutations in CBLB
Homeostasis of the immune system is key for human health. Recently, CENTOGENE carried out an analysis of clinical and genetic data from the CENTOGENE Biodatabank, which enabled the identification of patients with an ultra-rare immune dysregulation disorder characterized by autoimmunity and recurrent systemic infections.
Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease
Despite diagnostic exome/genome sequencing, patients remain without a diagnosis when the relevant gene-disease association is not yet known at the time of analysis. CENTOGENE therefore re-evaluates negative cases regularly, which frequently leads to establishing a diagnosis of several patients. A corresponding case series for a recently described neuromuscular disorder was published in the European Journal of Medical Genetics.
Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features
Establishing a novel gene-disease link has immediate diagnostic implications, while therapeutic considerations require functional insights beyond genotype and phenotype. CENTOGENE researchers contributed to a recent study that addressed this challenge. By combining several conceptual approaches, a novel disease was not only identified and explained, but also characterized at the levels of mRNA, protein and sub-cellular morphology. The findings were published in Genetics in Medicine.
Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center
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 Batten disease, a childhood-onset neurometabolic disorder. The comprehensive and uniform characterization of 97 patients, representing the largest cohort of its kind by far, broadens our insights into Batten disease and showcases CENTOGENE’s unique positioning in the field of rare genetic disorders. It was published in the Orphanet Journal of Rare Diseases.
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene
Cystic fibrosis (CF) is the most prevalent autosomal recessive genetic disorder; it has been assumed to be genetically homogeneous. Researchers at CENTOGENE, however, have now identified a second CF gene. They utilized the extensive data available in the company’s meticulously curated Biodatabank. Their finding, which has wide-ranging implications for CF in general, was published in the highly prestigious Journal of Medical Genetics.
Seizures belong to the phenotypic spectrum of multiple rare diseases. The underlying pathophysiology is rarely understood. For a novel seizure syndrome, transmembrane transport of certain amino acids has now been identified as the primary impaired cellular process.
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 amino acids could now be identified as the primarily defective cellular process. These findings, to which CENTOGENE contributed critical genetic data, were published in Brain.
Generally, the discovery of a new rare disease is a research project in its own right. An international consortium, in which CENTOGENE played a major role, has shown how the discovery of a disease can be conceptually combined with therapeutic approaches in a single comprehensive study.
The delineation of a novel rare disease is commonly a stand-alone research project. An international consortium, in which CENTOGENE played a major role, showcased how disease discovery can conceptually be combined with therapeutic approaches in a single comprehensive study. The resulting paper appeared in the New England Journal of Medicine, one of the most prestigious medical publication platforms.
The delineation of novel genetic disorders is facilitated by the formation of global research consortia. By actively contributing to collaborative efforts, CENTOGENE has supported dozens of gene-disease discovery projects over the past years. One such example was recently published in Genetics in Medicine
The delineation of novel genetic disorders is facilitated by the formation of global research consortia. By actively contributing to collaborative efforts, CENTOGENE has supported dozens of gene-disease discovery projects over the past years. One such example was recently published in Genetics in Medicine
Defining a disorder’s complete clinical spectrum requires a detailed description of large numbers of patients. To help advance the understanding of rare diseases, CENTOGENE is committed to leveraging its extensive Bio/Databank and sharing its diagnostic insights within the scientific community. A pertinent study of a rare neurodevelopmental disorder using these insights was recently published in the European Journal of Human Genetics.
Defining a disorder’s complete clinical spectrum requires a detailed description of large numbers of patients. To help advance the understanding of rare diseases, CENTOGENE is committed to leveraging its extensive Bio/Databank and sharing its diagnostic insights within the scientific community. A pertinent study of a rare neurodevelopmental disorder using these insights was recently published in the European Journal of Human Genetics.
Therapeutic strategies for monogenic diseases may be derived from the identification and understanding of disease-modifying factors. Researchers at CENTOGENE have been applying this rather novel approach, including in collaborative settings with academic colleagues from institutions around the world.
Therapeutic strategies for monogenic diseases may be derived from the identification and understanding of disease-modifying factors. Researchers at CENTOGENE have been applying this rather novel approach, including in collaborative settings with academic colleagues from institutions around the world. A proof-of-concept study resulting from one such collaboration has now been published in Nature Communications.
A global consortium, of which CENTOGENE was a part of, recently identified a novel autoinflammatory disorder that primarily affects the nervous system. The study was published in the American Journal of Human Genetics.
Genetic inflammatory disorders are quite rare, particularly those presenting with a pathological increase, rather than decrease, of inflammatory activity. A global consortium, of which CENTOGENE was a part of, recently identified a novel autoinflammatory disorder that primarily affects the nervous system. The study was published in the American Journal of Human Genetics.
A corresponding study focusing on leukodystrophies in Saudi Arabia was recently published in Frontiers in Pediatrics.
Genetic diseases that are generally rare may still have a high prevalence in certain geographic regions. As a major diagnostic partner for physicians in certain countries, CENTOGENE has been able to systematically investigate patient cases based on highly uniform data sets. A corresponding study focusing on leukodystrophies in Saudi Arabia was recently published in Frontiers in Pediatrics.
By performing deep genetic analyses and Bio/Databank mining, CENTOGENE discovered six novel gene-disease associations and evidence supporting 31 candidate genes – ultimately diagnosing over 90 patients. The findings were published in the prestigious journal Genetics in Medicine.
While technology has advanced over the past ten years, more than half of patients with genetic diseases remain undiagnosed, even after applying genome-wide diagnostic approaches. By performing deep genetic analyses and Bio/Databank mining, CENTOGENE discovered six novel gene-disease associations and evidence supporting 31 candidate genes – ultimately diagnosing over 90 patients. The findings were published in the prestigious journal Genetics in Medicine.
Review articles constitute a unique type of scientific publication, as they summarize, rather than present, observations and interpretations. In prestigious journals, they are commonly provided by the most recognized experts in the field. A pertinent example involving CENTOGENE authorship was recently published in the Journal of Neural Transmission.
While infectious diseases are commonly connected to environmental factors, genetic defects in some genes can strongly increase a person’s susceptibility to infections. Data generated at CENTOGENE helped to identify yet another example of this rare phenomenon. The findings, which revealed a novel disorder of the immune system, were published in the Proceedings of the National Academy of Sciences of the United States of America.
