Scientific Publications

Recognition of CENTOGENE’s Scientific Expertise

Editorial board members in scientific journals are selected from the most-respected experts in the field, and the request to write an Editorial on a current topic of general interest is truly an honor. It was a pleasure for CENTOGENE’s Chief Genomic Officer Prof. Peter Bauer and his team to contribute the Editorial for the current issue of the Journal of Biochemical and Clinical Genetics.

Editorial board members in scientific journals are selected from the most-respected experts in the field, and the request to write an Editorial on a current topic of general interest is truly an honor. It was a pleasure for CENTOGENE’s Chief Genomic Officer Prof. Peter Bauer and his team to contribute the Editorial for the current issue of the Journal of Biochemical and Clinical Genetics.

BiodatabankNGSWESWGS

Author(s): Beetz, Christian

19 Sep, 2020

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A Potential Link Between COVID-19 and Parkinson’s Disease

The potential consequences of a SARS-CoV-2 infection are only beginning to be understood. A recent case report, involving research carried out at CENTOGENE, describes a patient experiencing rapidly evolving Parkinsonism which started amid a SARS-CoV-2 infection. The observation suggesting that COVID-19 patients are at increased risk for developing Parkinson’s disease was published in the highly prestigious journal Lancet Neurology.

The potential consequences of a SARS-CoV-2 infection are only beginning to be understood. A recent case report, involving research carried out at CENTOGENE, describes a patient experiencing rapidly evolving Parkinsonism which started amid a SARS-CoV-2 infection. The observation suggesting that COVID-19 patients are at increased risk for developing Parkinson’s disease was published in the highly prestigious journal Lancet Neurology.

Covid-19 TestingNeurologyNGS

Author(s): Cohen, Mikhal E

15 Sep, 2020

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Genetics and Pathophysiology of Premature Aging

Progeria, the phenomenon of premature aging, is an ultra-rare genetic condition. A recent study reported mutations in MTX2 as the cause of a novel progeroid syndrome and revealed mitochondrial dysfunction as contributing to the pathophysiology in progeria. The study, which utilized CENTOGNE’s mutation database and biobank, was published in the prestigious journal Nature Communications.

Progeria, the phenomenon of premature aging, is an ultra-rare genetic condition. A recent study reported mutations in MTX2 as the cause of a novel progeroid syndrome and revealed mitochondrial dysfunction as contributing to the pathophysiology in progeria. The study, which utilized CENTOGNE’s mutation database and biobank, was published in the prestigious journal Nature Communications.

BiodatabankWESWGS

Author(s): Elouej, Sahar

10 Sep, 2020

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One Gene – Two Mutational Mechanisms

For a few genes, mono-allelic gain-of-function mutations as well as bi-allelic loss-of-function mutations have been found to cause disease. Based on findings in a large consanguineous family with multiple stillbirths, KIDINS220 can now be added to this list. A corresponding study, which was triggered by a genetic diagnostic report issued at CENTOGENE, was published in the American Journal of Medical Genetics A.

For a few genes, mono-allelic gain-of-function mutations as well as bi-allelic loss-of-function mutations have been found to cause disease. Based on findings in a large consanguineous family with multiple stillbirths, KIDINS220 can now be added to this list. A corresponding study, which was triggered by a genetic diagnostic report issued at CENTOGENE, was published in the American Journal of Medical Genetics A.

BiodatabankCardiovascularNeurologyWGS

Author(s): El-Dessouky, Sara H

09 Sep, 2020

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A Variant-Specific Mutational Effect

A given genetic disorder is usually associated with numerous distinct mutations in the underlying gene. For a novel neurodegenerative syndrome, however, only a single TRAPPC4 variant seems to be causative. A cohort of 23 pertinent patients, many of which were identified at CENTOGENE, was published in the European Journal of Human Genetics.

A given genetic disorder is usually associated with numerous distinct mutations in the underlying gene. For a novel neurodegenerative syndrome, however, only a single TRAPPC4 variant seems to be causative. A cohort of 23 pertinent patients, many of which were identified at CENTOGENE, was published in the European Journal of Human Genetics.

BiodatabankNeurologyWESWGS

Author(s): Ghosh, Shereen G

07 Sep, 2020

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Underlining the Diagnostic Superiority of Genome Sequencing

Technological options for genetic diagnostics have evolved rapidly, with genome sequencing (GS) being the latest addition. Evaluating the utility of GS in over 1,000 patients with a wide range of suspected genetic diseases, CENTOGENE underlined the superiority of GS over alternative approaches in a routine diagnostic setting. The findings on this unique cohort, being the largest of its kind reported to date, were published in the European Journal of Human Genetics

Technological options for genetic diagnostics have evolved rapidly, with genome sequencing (GS) being the latest addition. Evaluating the utility of GS in over 1,000 patients with a wide range of suspected genetic diseases, CENTOGENE underlined the superiority of GS over alternative approaches in a routine diagnostic setting. The findings on this unique cohort, being the largest of its kind reported to date, were published in the European Journal of Human Genetics

BiodatabankNGSWGS

Author(s): Bertoli-Avella, Aida M., MD

27 Aug, 2020

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Mechanistic Insights Into Cancer Predisposition

Genetic predisposition to cancer is tightly linked to an increased rate of somatic mutations. For one of the corresponding syndromes, the underlying defect has now been revealed to affect the DNA replication process. This insightful discovery, which involved researchers from CENTOGENE, was published in Nature Communications, one of the leading journals in the field of life sciences.

Genetic predisposition to cancer is tightly linked to an increased rate of somatic mutations. For one of the corresponding syndromes, the underlying defect has now been revealed to affect the DNA replication process. This insightful discovery, which involved researchers from CENTOGENE, was published in Nature Communications, one of the leading journals in the field of life sciences.

BiodatabankOncology

Author(s): van Schie, Janne J M

26 Aug, 2020

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Understanding Parkinson’s Disease on a Global Scale

Current insights into Parkinson’s disease (PD) are largely based on studies in Europe and North America. A recent effort towards establishing a multi-ethnic understanding of PD resulted in intriguing findings in Malayan patients. The study, to which CENTOGENE contributed comprehensive genetic testing, was published in the journal Parkinsonism & Related Disorders.

Current insights into Parkinson’s disease (PD) are largely based on studies in Europe and North America. A recent effort towards establishing a multi-ethnic understanding of PD resulted in intriguing findings in Malayan patients. The study, to which CENTOGENE contributed comprehensive genetic testing, was published in the journal Parkinsonism & Related Disorders.

BiodatabankNeurologyNGS

Author(s): Tan, Ai Huey

18 Aug, 2020

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Large Patient Cohort Enables Insights into a Rare Disease

Farber disease (FD) is a severe disorder for which rarity has hampered a comprehensive understanding. A recent study on a large cohort of patients provides unprecedented novel insights into FD. The study, to which CENTOGENE contributed genetic as well as biomarker data, was published in Clinical Genetics.

Farber disease (FD) is a severe disorder for which rarity has hampered a comprehensive understanding. A recent study on a large cohort of patients provides unprecedented novel insights into FD. The study, to which CENTOGENE contributed genetic as well as biomarker data, was published in Clinical Genetics.

BiodatabankBiomarkerMetabolic DisordersWES

Author(s): Mahmoud, Iman G.

18 Aug, 2020

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Unlocking the Genetics of Seizures

Seizures are frequently rooted in a genetic factor, but many of the corresponding disorders are ultra-rare. A new study reports ADARB1 mutations in two families in which patients suffer from a severe seizure+ syndrome; one of these families was identified at CENTOGENE.

Seizures are frequently rooted in a genetic factor, but many of the corresponding disorders are ultra-rare. A new study reports ADARB1 mutations in two families in which patients suffer from a severe seizure+ syndrome; one of these families was identified at CENTOGENE. The study, which confirms recent similar observations, was published in the Journal of Medical Genetics.

BiodatabankNeurologyWESWGS

Author(s): Maroofian, Reza, PhD

26 Jul, 2020

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A Novel Disorder of Nerve Cell Communication

Proper development and function of nerve cells relies on communication by so-called neurotransmitters. Mutations in the GAD1 gene, which is involved in neurotransmitter synthesis, have now been found to cause a multitude of severe neurological phenotypes.

Proper development and function of nerve cells relies on communication by so-called neurotransmitters. Mutations in the GAD1 gene, which is involved in neurotransmitter synthesis, have now been found to cause a multitude of severe neurological phenotypes.

BiodatabankNeurologyWESWGS

Author(s): Neuray, Caroline

22 Jul, 2020

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Epidemiology of a Rare Protein Aggregation Disorder

Some genetic disorders are caused by an accumulation of the mutated protein, with hereditary ATTR amyloidosis (hATTR) being a prime example. Therapeutic strategies that target these toxic aggregates are being tested in clinical trials. CENTOGENE’s active contributions to this field are demonstrated by a recent publication on the epidemiology of hATTR in the Journal of Clinical Medicine.

Some genetic disorders are caused by an accumulation of the mutated protein, with hereditary ATTR amyloidosis (hATTR) being a prime example. Therapeutic strategies that target these toxic aggregates are being tested in clinical trials. CENTOGENE’s active contributions to this field are demonstrated by a recent publication on the epidemiology of hATTR in the Journal of Clinical Medicine.

BiodatabankCardiovascularNeurologyNGS

Author(s): Auer-Grumbach, Michaela

14 Jul, 2020

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CENTOGENE’s Blueprint for Widespread COVID-19 Testing

Widespread preventative testing for SARS-CoV-2 is essential in preventing a further outbreak of COVID-19 and supporting a return to the new normal. CENTOGENE responded to this need – developing an innovative holistic testing pipeline. A paper that describes the validation of this platform and reports findings in a large cohort of probands was published in Diagnostics.

Widespread preventative testing for SARS-CoV-2 is essential in preventing a further outbreak of COVID-19 and supporting a return to the new normal. CENTOGENE responded to this need – developing an innovative holistic testing pipeline. A paper that describes the validation of this platform and reports findings in a large cohort of probands was published in Diagnostics.

Covid-19 TestingImmunologyNGSPneumology

Author(s): Beetz, Christian, Skrahina, Volha, phD

14 Jul, 2020

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Successful Monitoring of Gaucher Disease

Biomarkers are key tools in establishing a diagnosis and monitoring rare disorders. The lipid metabolite Lyso-Gb1 has long been known as an excellent diagnostic biomarker. In a recent study, which was initiated and led by researchers at CENTOGENE, Lyso-Gb1 was shown to also be ideally suited for monitoring purposes.

Biomarkers are key tools in establishing a diagnosis and monitoring rare disorders. The lipid metabolite Lyso-Gb1 has long been known as an excellent diagnostic biomarker. In a recent study, which was initiated and led by researchers at CENTOGENE, Lyso-Gb1 was shown to also be ideally suited for monitoring purposes.

BiomarkerMetabolic Disorders

Author(s): Cozma, Dr. rer. nat. Claudia, MD

26 Jun, 2020

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Testing of Novel Treatment Options for Niemann-Pick Disease

The search for causative treatments continues to be a leading challenge in rare disease research. Using varying models, researchers recently investigated the potential effects of a novel candidate drug for improving neurological symptoms of Niemann-Pick disease.

The search for causative treatments continues to be a leading challenge in rare disease research. Using varying models, researchers recently investigated the potential effects of a novel candidate drug for improving neurological symptoms of Niemann-Pick disease.

BiomarkerMetabolic DisordersNeurology

Author(s): Gläser, Anne

23 Jun, 2020

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