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Scientific Publications

Curious About the Latest Scientific Discoveries?

Novel Genetic Cause for Absence of Kidneys

Renal defects are rather common in inherited disorders, while absence of kidneys is very rare. A focused analysis of CENTOGENE’s data repository CentoMD® revealed loss-of-function mutations in GFRA1 as a novel cause for this lethal condition. These findings were published in the Journal of the American Society of Nephrology, the leading journal for kidney research.

Renal defects are rather common in inherited disorders, while absence of kidneys is very rare. A focused analysis of CENTOGENE’s data repository CentoMD® revealed loss-of-function mutations in GFRA1 as a novel cause for this lethal condition. These findings were published in the Journal of the American Society of Nephrology, the leading journal for kidney research.

BiodatabankNephrologyWESWGS
Author(s): Arora, Veronica
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A Dx Success Story Showing the Clinical Utility of Genomic Testing as a First-Line Diagnostic Test

In the frame of a charity testing program, CENTOGENE has provided diagnoses for more than 200 Pakistani children over a one-year period with immediate impact on clinical management in the majority of these young patients. A scientific study detailing the findings was published in NPJ Genomic Medicine.

Genetic disorders are prevalent in many developing countries, but access to genomic testing is limited. In the frame of a charity testing program, CENTOGENE has provided diagnoses for more than 200 Pakistani children over a one-year period. Of note, there were immediate steps that could be taken regarding clinical management in the majority of these young patients. A scientific study detailing the findings was published in NPJ Genomic Medicine.

WESWGS
Author(s): Cheema, Huma Arshad
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Characterizing a Rare Disease Through a Global Effort

In the rare disease field, the compilation of large patient cohorts is a challenge, but necessary for understanding a disease and eventually enabling clinical trials. CENTOGENE therefore happily participated in a corresponding effort that focuses on the rare neurodegenerative disorder AP4-deficiency syndrome. The first insights from this global initiative were published in Brain, one of the leading neurological journals.

In the rare disease field, the compilation of large patient cohorts is a challenge, but necessary for understanding a disease and eventually enabling clinical trials. CENTOGENE therefore happily participated in a corresponding effort that focuses on the rare neurodegenerative disorder AP4-deficiency syndrome. The first insights from this global initiative were published in Brain, one of the leading neurological journals.

BiodatabankNeurologyWESWGS
Author(s): Ebrahimi-Fakhari, Darius
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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
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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
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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
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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
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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
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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
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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
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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
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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.
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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
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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
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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
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