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Scientific Publications

Curious About the Latest Scientific Discoveries?

A new genetic cause of neurological disease

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy

Through genetic, clinical, and functional evidence, we demonstrated that loss-of-function of BLOC1S1 results in an autosomal recessive neurological disorder characterized by prominent leukodystrophy. The findings will be published in collaboration with the Children’s Hospital of Philadelphia and several centers worldwide in the prestigious American Journal of Human Genetics. Four of the seven families studied were identified at CENTOGENE, originating from Portugal, Turkey, and the KSA.

Neurology
Author(s): Bertoli-Avella, Aida M., MD
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RNA-Seq as the Next Step in Genetic Diagnostics

Experience the power of multiomic diagnostics: We have implemented RNA-seq using the same dried blood spot sample provided for genomic testing.

Experience the power of multiomic diagnostics: We have implemented RNA-seq using the same dried blood spot sample provided for genomic testing. This streamlined approach enhances our routine diagnostics by clarifying the splicing effect of relevant noncoding variants and delivering more comprehensive genetic testing.

MultiomicsRNA
Author(s): Bertoli-Avella, Aida M., MD
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Elucidating the Mechanisms That Underlies Genetic Parkinson’s Disease

Parkinson’s Disease Publication: African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1.

The mechanisms by which GBA1 mutations cause Parkinson’s Disease (PD) are incompletely understood. Supported by the Michael J Fox Foundation, CENTOGENE generated corresponding insights for an unusual GBA1 mutation that was only recently discovered. The findings were published in collaboration with NIH researchers in Nature Structural & Molecular Biology, a prestigious journal from the Nature Publishing Group.

NeurologyRNA
Author(s): Radefeldt, Mandy
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Two Distinct Disorders Resulting From Mutations in One Gene

Publication: Upregulation vs. loss of function of NTRK2 in 44 affected individuals leads to two distinct neurodevelopmental disorders

Mutations in a given gene are usually associated with a single genetic disorder. Combined analysis of published case reports and data from CENTOGENE’s uniquely large database revealed that the NTRK2 gene is a rare exception by being associated with two distinct disorders. The finding was published in Genetics in Medicine, a leading journal in the field.

Neurology
Author(s): Zonic, Emir
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Better Understanding of a Novel Form of Monogenic Parkinson’s Disease

Parkinson’s Disease Publication: Genetic and Epidemiological Insights into RAB32-Linked Parkinson’s Disease

The link between the RAB32 gene and Parkinson’s Disease (PD) has been established only recently; it is not yet fully understood. CENTOGENE’s researchers thus analyzed relevant data from the company’s database. The findings, which shed light on important genetic and epidemiological aspects of RAB32-PD, were published in Movement Disorders.

BiodatabankNeurology
Author(s): Radefeldt, Mandy
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Pilot Observations From a Large Genetic Screening Study

Publication: Hereditary Transthyretin-Related Amyloidosis Ongoing Observational Study – A Baseline Report of the First 3167 Participants

Comprehensive understanding of a rare disorder requires the identification of a large number of patients. CENTOGENE has been running a pertinent screening study for Hereditary Transthyretin-Related Amyloidosis (hATTR) since 2018. An analysis of the first ~3,000 study participants revealed numerous novel insights into hATTR; it was published in Journal of Clinical Medicine.

BiodatabankNeurology
Author(s): Rösner, Sabine
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Ultra-Rare Immune Disorder Uncovered

Immune dysregulation caused by homozygous mutations in CBLB

Homeostasis of the immune system is key for human health. Recently, CENTOGENE carried out an analysis of clinical and genetic data from the CENTOGENE Biodatabank, which enabled the identification of patients with an ultra-rare immune dysregulation disorder characterized by autoimmunity and recurrent systemic infections.

BiodatabankImmunologyWES
Author(s): Janssen, Erin
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An Encyclopedia for Mass Spectrometry Lipidomics

Mass spectrometry (MS) is a state-of-the art technique to identify and quantify lipid species. This study analyzed this tool to pave the way to better research and health outcomes for patients around the world.

Mass spectrometry (MS) is a state-of-the art technique to identify and quantify lipid species. This study analyzed this tool to pave the way to better research and health outcomes for patients around the world.

BiodatabankMetabolic DisordersMultiomics
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A Multiomic Approach to Diagnosing Patients and Accelerating Treatments

An approach which integrates genetic and biochemical testing as first-line diagnostic tool for patients with inherited metabolic disorders.

An approach which integrates genetic and biochemical testing as first-line diagnostic tool for patients with inherited metabolic disorders.

BiomarkerMetabolic DisordersMultiomics
Author(s): Bertoli-Avella, Aida M., MD
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Retrospective Diagnosing of Rare Disease Patients

Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease

Despite diagnostic exome/genome sequencing, patients remain without a diagnosis when the relevant gene-disease association is not yet known at the time of analysis. CENTOGENE therefore re-evaluates negative cases regularly, which frequently leads to establishing a diagnosis of several patients. A corresponding case series for a recently described neuromuscular disorder was published in the European Journal of Medical Genetics.

BiodatabankWESWGS
Author(s): Marais, Anett
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Broader Applicability of Rare Disease Biomarker

Quantitation of a Urinary Profile of Biomarkers in Gaucher Disease Type 1 Patients Using Tandem Mass Spectrometry

Biomarkers have the potential to serve numerous purposes (diagnosis, prognosis, monitoring, etc.) when well-characterized in large cohorts of patients and controls. Building on its rich source of rare disease samples, CENTOGENE actively supports pertinent efforts for known and novel biomarkers. A corresponding study addressing Gaucher disease was recently published in Diagnostics.

BiomarkerMetabolic Disorders
Author(s): Curado, Filipa
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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
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In-Depth Characterization of a Novel Disease

Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features

Establishing a novel gene-disease link has immediate diagnostic implications, while therapeutic considerations require functional insights beyond genotype and phenotype. CENTOGENE researchers contributed to a recent study that addressed this challenge. By combining several conceptual approaches, a novel disease was not only identified and explained, but also characterized at the levels of mRNA, protein and sub-cellular morphology. The findings were published in Genetics in Medicine.

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