Scientific Publications

Disturbed Growth Signaling Linked to a Novel Disorder

Most studies that report novel gene-disease associations lack functional insights. A recent exception is a high impact paper on a skeletal dysplasia caused by recessive variants in SCUBE3. In a global collaborative effort involving researchers from CENTOGENE, a specific signaling pathway could be linked to the observed growth defects. The findings were published in the American Journal of Human Genetics.

Most studies that report novel gene-disease associations lack functional insights. A recent exception is a high impact paper on a skeletal dysplasia caused by recessive variants in SCUBE3. In a global collaborative effort involving researchers from CENTOGENE, a specific signaling pathway could be linked to the observed growth defects. The findings were published in the American Journal of Human Genetics.

BiodatabankDysmorphologyWESWGS

Author(s): Lin, Yuh-Charn

06 Dec, 2020

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An Extended Intellectual Disability Phenotype

Intellectual disability (ID) is amongst the most frequent symptoms of syndromic genetic disorders. Analyzing a multi-generational family, CENTOGENE identified a homozygous nonsense variant in TRAPPC9 causing a form of ID that is associated with autism. The findings were published in Meta Gene.

Intellectual disability (ID) is amongst the most frequent symptoms of syndromic genetic disorders. Analyzing a multi-generational family, CENTOGENE identified a homozygous nonsense variant in TRAPPC9 causing a form of ID that is associated with autism. The findings were published in Meta Gene.

BiodatabankNeurologyWES

Author(s): Ashaat, Engy A.

04 Dec, 2020

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Defective mRNA Translation and Neurodegeneration

Based on their size and inability to renew, nerve cells are highly vulnerable to defects in many cellular processes, including the translation of mRNA. A recent study involving several researchers from CENTOGENE further emphasizes the importance of proper mRNA translation for neuronal survival.

Based on their size and inability to renew, nerve cells are highly vulnerable to defects in many cellular processes, including the translation of mRNA. A recent study involving several researchers from CENTOGENE further emphasizes the importance of proper mRNA translation for neuronal survival. These insights were published in Annals of Neurology, one of the most prestigious journals in the field.

BiodatabankNeurologyWESWGS

Author(s): Kuipers, Demy J S

23 Nov, 2020

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Genetic Confirmation to Solidify Expert Clinical Suspicion

Expert physicians are able to clinically recognize even rare congenital conditions. In saying that, CENTOGENE still advises targeted genetic follow-up aimed at confirming the suspicion, as well as genetic counselling and prenatal diagnostics. An educative example of this constellation was recently published in Clinical and Experimental Dermatology.

Expert physicians are able to clinically recognize even rare congenital conditions. In saying that, CENTOGENE still advises targeted genetic follow-up aimed at confirming the suspicion, as well as genetic counselling and prenatal diagnostics. An educative example of this constellation was recently published in Clinical and Experimental Dermatology.

DermatologyNGS

Author(s): Mintoff, D

21 Nov, 2020

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A Case Report with High Scientific Value

A recent paper, which was triggered by a genetic diagnosis issued at CENTOGENE, is of rather high value in this respect. Published in the Journal of Neurogenetics, it describes the 10th patient ever identified to be affected by ZNF355-related disorder.

The value of a case report can be correlated with the rarity of the disorder it covers. A recent paper, which was triggered by a genetic diagnosis issued at CENTOGENE, is of rather high value in this respect. Published in the Journal of Neurogenetics, it describes the 10th patient ever identified to be affected by ZNF355-related disorder.

BiodatabankNeurologyWGS

Author(s): Caglayan, Ahmed Okay

19 Nov, 2020

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Joining Forces to Understand Ultra-Rare Disorders

A pertinent success story in global rare disease collaboration, in which >50 partners, including CENTOGENE, joined forces to address an X-linked syndrome, was recently published in Genetics in Medicine.

Certain genetic disorders are too rare to be investigated in several patients by single centers. Uniform scientific descriptions thus require global collaborations. A pertinent success story, in which >50 partners, including CENTOGENE, joined forces to address an X-linked syndrome, was recently published in Genetics in Medicine.

BiodatabankDysmorphologyNeurologyWES

Author(s): Brunet, Theresa

10 Nov, 2020

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One Genetic Variant – 52 Patients

Schuurs-Hoeijmakers syndrome is one of the few inherited disorders that have been associated with only a single genetic variant. A recent study describes 16 pertinent patients, most of whom were identified by CENTOGENE and was published in the American Journal of Medical Genetics.

Schuurs-Hoeijmakers syndrome is one of the few inherited disorders that have been associated with only a single genetic variant. A recent study describes 16 pertinent patients, most of whom were identified by CENTOGENE. This significant extension of the knowledge around Schuurs-Hoeijmakers syndrome was published in the American Journal of Medical Genetics.

BiodatabankDysmorphologyWES

Author(s): Seto, Mimi Tin-Yan

08 Nov, 2020

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Genetic Causes for Late Onset Neuropathy

Slowly progressive health issues in the elderly are usually equated to a general age-related decline. In some patients, however, these health issues may be manifestations of late onset genetic disorders. A recent study, which was co-authored by researchers from CENTOGENE, supports this view by identifying genetic etiologies in a surprisingly large fraction of elderly patients with neuropathies. The findings were published in Neurology.

Slowly progressive health issues in the elderly are usually equated to a general age-related decline. In some patients, however, these health issues may be manifestations of late onset genetic disorders. A recent study, which was co-authored by researchers from CENTOGENE, supports this view by identifying genetic etiologies in a surprisingly large fraction of elderly patients with neuropathies. The findings were published in Neurology.

BiodatabankNeurologyWES

Author(s): Senderek, Jan

02 Nov, 2020

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Novel X-linked Syndrome Identified

Defects in many X-chromosomal genes are known to cause neurodevelopmental problems in males. A further example was recently identified at CENTOGENE when conducting an depth investigation of 13 affected males from a multi-generational family. This revealed OTUD5 as a novel gene associated with an X-chromosomal neurological disease. The findings were published in Clinical Genetics.

Defects in many X-chromosomal genes are known to cause neurodevelopmental problems in males. A further example was recently identified at CENTOGENE when conducting an depth investigation of 13 affected males from a multi-generational family. This revealed OTUD5 as a novel gene associated with an X-chromosomal neurological disease. The findings were published in Clinical Genetics.

CardiovascularNeurologyWES

Author(s): Tripolszki, Kornelia

31 Oct, 2020

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Expanding the Genetics of Impaired Neurodevelopment

The nervous system is particularly vulnerable to genetic defects, and novel pertinent gene-disease associations are still being discovered. A recent example is the link between impaired neurodevelopment and recessive loss-of-function variants in the gene NEMF. Two of the five families that are described in a paper published in Human Genetics were identified at CENTOGENE.

The nervous system is particularly vulnerable to genetic defects, and novel pertinent gene-disease associations are still being discovered. A recent example is the link between impaired neurodevelopment and recessive loss-of-function variants in the gene NEMF. Two of the five families that are described in a paper published in Human Genetics were identified at CENTOGENE.

BiodatabankNeurologyWESWGS

Author(s): Ahmed, Ashfaque

12 Oct, 2020

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A Novel Therapeutic Concept for Fabry Disease

Fabry disease is caused by mutations that affect the lysosomal enzyme α-galactosidase, but the pathophysiology of the disease remains to be completely understood. A recent study that was co-authored by CENTOGENE’s CEO Prof. Arndt Rolfs revealed misfolding of mutant α-galactosidase in the endoplasmic reticulum. These findings and their therapeutic implications were published in the International Journal of Molecular Sciences.

Fabry disease is caused by mutations that affect the lysosomal enzyme α-galactosidase, but the pathophysiology of the disease remains to be completely understood. A recent study that was co-authored by CENTOGENE’s CEO Prof. Arndt Rolfs revealed misfolding of mutant α-galactosidase in the endoplasmic reticulum. These findings and their therapeutic implications were published in the International Journal of Molecular Sciences.

CardiovascularMetabolic DisordersNephrologyNeurology

Author(s): Braunstein, Hila

06 Oct, 2020

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Continuum of ‘Distinct’ Neurodegenerative Disorders

A neurodegenerative disorder may affect distinct types of nerve cells in a patient-specific manner, which suggests a continuum of possible pathologies. A recent case report, based on a genetic diagnosis established at CENTOGENE and published in Parkinsonism and Related Disorders, discusses this phenomenon for ATP13A2.

A neurodegenerative disorder may affect distinct types of nerve cells in a patient-specific manner. This suggests that there is actually a continuum of possible pathologies. A recent case report, which was based on a genetic diagnosis established at CENTOGENE, discusses this phenomenon for ATP13A2. It was published in Parkinsonism and Related Disorders.

BiodatabankNeurologyNGSWES

Author(s): Miranda, Marcelo

05 Oct, 2020

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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

04 Oct, 2020

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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

04 Oct, 2020

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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

25 Sep, 2020

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