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Scientific Publications

Curious About the Latest Scientific Discoveries?

Novel Genotype-Phenotype Association with Wide-Ranging Implications

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.

BiodatabankWESWGS
Author(s): Bertoli-Avella, Aida M., MD
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Defining the Clinical Spectrum of Rare Disorders

Although considered syndromal, multiple uncommon diseases can present with only a single clinical symptom. An epidemiological clinical study led by CENTOGENE provided impressive evidence for the relevance of this phenomenon in hereditary TTR-related amyloidosis.

Many rare disorders, despite being considered syndromic, may manifest with only a single clinical symptom. A CENTOGENE-led epidemiological clinical study provided impressive evidence for the relevance of this phenomenon in hereditary TTR-related amyloidosis. The study’s results were published in Annals of Medicine.

CardiovascularNeurologyNGS
Author(s): Skrahina, Volha, phD
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Linking Seizures and Amino Acid Homeostasis

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.

BiodatabankNeurologyWESWGS
Author(s): Marafi, Dana
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Combining Genetic Insights and Therapeutic Efforts

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.

BiodatabankWESWGS
Author(s): Chai, Guoliang
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An Innovative Approach for Biomarker Discovery

A number of genetic diseases, including hereditary angioedema (HAE), do not occur chronically but in unpredictable episodes. CENTOGENE has developed a protocol for the collection of patient samples during these critical phases.

Some genetic disorders, including hereditary angioedema (HAE), do not manifest chronically, but by unpredictable attacks. CENTOGENE has developed a protocol for the collection of patient samples during these critical phases. The first clinical study to apply this protocol in a biomarker discovery setting has now been published in the Orphanet Journal of Rare Diseases.

Biomarker
Author(s): M Förster, Toni
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Working Towards a Better Understanding of Parkinson’s Disease

A detailed and uniform characterization of large patient cohorts is essential for generating therapeutically relevant knowledge about rare diseases.

Detailed characterization of large patient cohorts in a uniform manner is critical for gaining therapeutically relevant insights into rare diseases. CENTOGENE is a major stakeholder in the LIPAD Study, a pertinent project focused on Parkinson’s disease cohorts. The concept and the goals of this study were recently described in a publication in Frontiers in Neurology.

BiodatabankBiomarkerNeurology
Author(s): Usnich, Tatiana
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Biomarker-Based Monitoring of Treatment Efficacy

Some biomarkers can be used to monitor treatment efficacy. A recent study published in the Journal of Molecular Sciences provided impressive evidence that CENTOGENE’s Gaucher disease-specific biomarker Lyso-Gb1 can be used for both diagnostics and treatment monitoring.

The value of most metabolic biomarkers is restricted to diagnostic settings. A few biomarkers, however, can also be used to monitor treatment efficacy. A recent study published in the Journal of Molecular Sciences provided impressive evidence that CENTOGENE’s Gaucher disease-specific biomarker Lyso-Gb1 can be used for both diagnostics and treatment monitoring.

Biomarker
Author(s): Dinur, Tama, PhD
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Collaborative Discovery of Gene-Disease Associations

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

BiodatabankNeurologyWESWGS
Author(s): Iqbal, Maria
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COVID-19 and Parkinson’s Disease

As one of the company’s priority diseases, CENTOGENE is continuously carrying out research into the causes of Parkinson’s disease (PD). A recurrent observation has been a temporal link of the development of PD to SARS-CoV-2 infections. Corroborating similar findings by others, a corresponding study was recently published in the Journal of Neurology.

As one of the company’s priority diseases, CENTOGENE is continuously carrying out research into the causes of Parkinson’s disease (PD). A recurrent observation has been a temporal link of the development of PD to SARS-CoV-2 infections. Corroborating similar findings by others, a corresponding study was recently published in the Journal of Neurology.

Covid-19 TestingNeurology
Author(s): Cavallieri, Francesco
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Sharing Diagnostic Insights to Support Rare Disease Patients

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.

BiodatabankNeurologyWESWGS
Author(s): Zaki, Maha S
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Multiomic Characterization of Rare Disease Patients

Applying a multiomic approach to rare genetic diseases has great potential to synergistically generate truly novel insights. CENTOGENE is therefore complementing its rich phenomic and genomic datasets with data from untargeted metabolomics. A methodological description of the approach was recently published in Metabolites.

Applying a multiomic approach to rare genetic diseases has great potential to synergistically generate truly novel insights. CENTOGENE is therefore complementing its rich phenomic and genomic datasets with data from untargeted metabolomics. A methodological description of the approach was recently published in Metabolites.

BiomarkerMultiomics
Author(s): Rus, Corina-Marcela
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Improving Diagnostic Options for Rare Diseases

A diagnostic strategy for rare diseases based on a combination of standard laboratory parameters has long been sought after. To help advance this approach, CENTOGENE actively participates in corresponding research initiatives.

A diagnostic strategy for rare diseases based on a combination of standard laboratory parameters has long been sought after. To help advance this approach, CENTOGENE actively participates in corresponding research initiatives. Data from one such study, addressing Gaucher disease, was recently published in the International Journal of Clinical Practice.

BiomarkerMetabolic Disorders
Author(s): M Reynolds, Timothy
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Modifiers of Genetic Disease

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.

BiodatabankNeurologyWESWGS
Author(s): Laabs, Björn-Hergen
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A Novel Genetic Cause for Autoinflammation

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.

BiodatabankWESWGS
Author(s): Wong, Hui Hui
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Globally Rare – Locally Common

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.

BiodatabankNeurologyWESWGS
Author(s): Alfadhel, Majid, MD
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