Scientific Publications

Innovative Treatment of a Severe Disease

Promising Effect of High Dose Ambroxol Treatment on Neurocognition and Motor Development in a Patient With Neuropathic Gaucher Disease 2

Exploratory innovative treatments are often pursued and justified in diseases that are associated with fatal outcomes in early childhood. CENTOGENE is proud to have contributed to a pertinent success story in which a newborn with Gaucher disease type 2 developed largely normal after being prescribed an off-label treatment with a cough medication during the first three years of life. The case was reported in Frontiers in Neurology.

Metabolic DisordersNeurology

Author(s): Hartmann, Guido

06 Jun, 2022

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Contributions to WGS Guidelines for Rare Disease Diagnostics

Recommendations for whole genome sequencing in diagnostics for rare diseases

Proper genetic diagnostics relies on up-to-date guidelines. These have recently been revised for Whole Genome Sequencing (WGS) by a panel of European experts. CENTOGENE’s Chief Genomic and Medical Officer Prof. Peter Bauer was an invited member of this panel, underlining that CENTOGENE is well-recognized in the field of genetic diagnostics. The revised guidelines were published in the European Journal of Human Genetics.

WGS

Author(s): Bauer, Prof. Peter, MD

16 May, 2022

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Increasing Disease Insights by Describing Large Patient Cohorts

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.

BiodatabankNeurologyWESWGS

Author(s): Rus, Corina-Marcela

03 May, 2022

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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

24 Dec, 2021

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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

21 Dec, 2021

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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

04 Oct, 2021

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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

30 Sep, 2021

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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

28 Sep, 2021

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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

09 Aug, 2021

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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

18 Jul, 2021

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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

08 Jul, 2021

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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

02 Jul, 2021

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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

23 Jun, 2021

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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

12 Jun, 2021

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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

29 May, 2021

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