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Scientific Publications

Curious About the Latest Scientific Discoveries?

Revealing Genetic Causes of Parkinson’s Disease

Certain variants in LRRK2 have been associated with Parkinson’s disease. While much is known about this association for some variants, knowledge is still sparse for others. In the frame of a CENTOGENE-led clinical study, two patients with the ultra-rare p.R1441C variant were identified and extensively characterized. These findings were published in Neurodegenerative Diseases.

Certain variants in LRRK2 have been associated with Parkinson’s disease. While much is known about this association for some variants, knowledge is still sparse for others. In the frame of a CENTOGENE-led clinical study, two patients with the ultra-rare p.R1441C variant were identified and extensively characterized. These findings were published in Neurodegenerative Diseases.

BiodatabankNeurologyNGS
Author(s): Lim, Shen-Yang
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A New Phenotype for a Known Neurological Disorder

Hereditary disorders of the nervous system may present with a wide spectrum of symptoms. Bi-allelic mutations in GBA2, classically associated with abnormal gait, have recently been found to also cause dystonia. This novel observation, to which CENTOGENE contributed the genetic data, was published in the European Journal of Medical Genetics.

Hereditary disorders of the nervous system may present with a wide spectrum of symptoms. Bi-allelic mutations in GBA2, classically associated with abnormal gait, have recently been found to also cause dystonia.

BiodatabankNeurologyNGSWES
Author(s): Kloth, Katja
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Novel Causes for Heart Malformations

An ever-increasing number of genes have been linked to heart malformations. For ADAMTS19, the most recent addition to this list, a querying of CENTOGENE’s well-curated database – CentoMD® – identified three patients that carry three different pathogenic variants. This genetic spectrum, along with a detailed clinical characterization, was described in the European Journal of Human Genetics.

An ever-increasing number of genes have been linked to heart malformations. For ADAMTS19, the most recent addition to this list, a querying of CENTOGENE’s well-curated database – CentoMD® – identified three patients that carry three different pathogenic variants. This genetic spectrum, along with a detailed clinical characterization, was described in the European Journal of Human Genetics.

BiodatabankCardiovascularNGSWESWGS
Author(s): Massadeh, Salam
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Manifestation and Progression of an Ultra-Rare Disorder

Rarity is a major obstacle for comprehensively understanding certain genetic disorders, and thus the availability of case reports is critical. The disease course of a patient, who had been diagnosed at CENTOGENE with an ultra-rare condition termed ‘Congenital Disorder of Deglycosilation,’ was extensively described in the European Journal of Medical Genetics.

Rarity is a major obstacle for comprehensively understanding certain genetic disorders, and thus the availability of case reports is critical. The disease course of a patient, who had been diagnosed at CENTOGENE with an ultra-rare condition termed ‘Congenital Disorder of Deglycosilation,’ was extensively described in the European Journal of Medical Genetics.

BiodatabankHepatologyWESWGS
Author(s): Rios-Flores, Izabel Maryalexandra
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Clinical Expertise in Genetic Disorders

The fact that many lysosomal storage disorders may have a neurological component is incompletely understood. Clinical studies on this topic therefore require clear definitions of eligible patient cohorts.

The fact that many lysosomal storage disorders may have a neurological component is incompletely understood. Clinical studies on this topic therefore require clear definitions of eligible patient cohorts.

Metabolic DisordersNeurology
Author(s): Schiffmann, Raphael
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Consanguinity and Recessive Disorders

High consanguinity is associated with a high prevalence of recessive genetic disorders. CENTOGENE recently contributed to a study which confirmed this notion in Arab communities in Israel. Whole exome sequencing identified causative homozygous variants in >50% of patients with neurological disorders.

High consanguinity is associated with a high prevalence of recessive genetic disorders. CENTOGENE recently contributed to a study which confirmed this notion in Arab communities in Israel. Whole exome sequencing identified causative homozygous variants in >50% of patients with neurological disorders.

BiodatabankNeurologyWESWGS
Author(s): Hengel, Holger, Dr. med.
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Genetics of the Blood-Brain Barrier

Proper function of the blood-brain barrier relies on the so-called tight junctions. In four families, one of which was identified at CENTOGENE, mutations in the tight junction-encoding gene JAM2 were recently shown to result in brain calcification.

Proper function of the blood-brain barrier relies on the so-called tight junctions. In four families, one of which was identified at CENTOGENE, mutations in the tight junction-encoding gene JAM2 were recently shown to result in brain calcification.

BiodatabankNeurologyWESWGS
Author(s): Schottlaender, Lucia V
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Insights Into an Ultra Rare Disease

Rarity of a disease usually correlates with a limited understanding. Case reports about diagnosed patients are thus very important. A recent study based on genetic findings at CENTOGENE exemplifies this notion for Xia-Gibbs Syndrome. It was published in Molecular Syndromology.

Rarity of a disease usually correlates with a limited understanding. Case reports about diagnosed patients are thus very important. A recent study based on genetic findings at CENTOGENE exemplifies this notion for Xia-Gibbs Syndrome. It was published in Molecular Syndromology.

BiodatabankNeurologyWESWGS
Author(s): Cardoso-Dos-Santos, Augusto César
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Personalizing Therapeutic Decisions in Fabry Disease

More than a single treatment option is available for some genetic disorders. For Fabry Disease, the optimal choice requires biochemical characterization of the causative mutation.

More than a single treatment option is available for some genetic disorders. For Fabry Disease, the optimal choice requires biochemical characterization of the causative mutation. Using a novel assay, researchers from Rostock University and CENTOGENE have now re-investigated almost 200 Fabry mutations. Their findings, which have profound therapeutic implications, were published in the International Journal of Molecular Sciences.

BiodatabankBiomarkerCardiovascularMetabolic DisordersNeurology
Author(s): Rolfs, Prof. Arndt, MD, Hermann, Andreas, MD, Lukas, Jan, PhD, Pantoom, Dr. rer. nat. Supansa, Hund, Christina, Iwanov, Katharina, Petters, Janine, Cimmaruta, Chiara, Cubellis, Maria, Liguori, L, Bunschkowski, Maik
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A Novel Neurodevelopmental Disorder

Brain development is a highly complex process involving numerous proteins. The latest addition to this list is YIF1B: its absence due to bi-allelic inactivating mutations results in a severe neurological disorder.

Brain development is a highly complex process involving numerous proteins. The latest addition to this list is YIF1B: its absence due to bi-allelic inactivating mutations results in a severe neurological disorder.

BiodatabankNeurologyWESWGS
Author(s): AlMuhaizea, Mohammed A.
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Frequent Genetic Cause of Seizures Identified

The etiology of seizures is highly heterogeneous and involves an unknown number of distinct genetic disorders. An international team of researchers recently defined recessive mutations in the UGDH gene as a novel and surprisingly frequent cause of seizures and developmental delay.

The etiology of seizures is highly heterogeneous and involves an unknown number of distinct genetic disorders. An international team of researchers recently defined recessive mutations in the UGDH gene as a novel and surprisingly frequent cause of seizures and developmental delay. By querying its data repository of rare diseases ─ CentoMD®, CENTOGENE contributed several cases to the study, which was published in Nature Communications.

BiodatabankNeurologyWESWGS
Author(s): Hengel, Holger, Dr. med.
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Generation of iPSCs for Rare Diseases

Induced pluripotent stem cells (iPSCs) represent excellent in vitro models to study rare diseases and perform high-throughput drug screening.

Induced pluripotent stem cells (iPSCs) represent excellent in vitro models to study rare diseases and perform high-throughput drug screening. CENTOGENE has established iPSC technology for rare monogenetic diseases in its Rostock headquarters based on patient-derived fibroblasts.

Metabolic DisordersNeurologyOphthalmology
Author(s): Rolfs, Prof. Arndt, MD, Hermann, Andreas, MD, Lukas, Jan, PhD, Frech, Moritz J, PhD, Iwanov, Katharina, Petters, Janine, Völkner, Christin, Cimmaruta, Chiara, Chang, ML, Knuebel, G, Escobar, HM
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Moving Towards New Therapies for Fabry Disease

Fabry disease is a multi-system lysosomal storage disorder. As it is caused by an enzyme deficiency, enzyme replacement therapy is the standard treatment option. To overcome some of the issues with this strategy, alternatives are being explored through a collaborative effort involving researchers from CENTOGENE. The recent finding of proteostasis regulators representing a promising therapeutic target was published in the Biochemical Journal.

Fabry disease is a multi-system lysosomal storage disorder. As it is caused by an enzyme deficiency, enzyme replacement therapy is the standard treatment option. To overcome some of the issues with this strategy, alternatives are being explored through a collaborative effort involving researchers from CENTOGENE. The recent finding of proteostasis regulators representing a promising therapeutic target was published in the Biochemical Journal.

BiomarkerCardiovascularEndocrinologyMetabolic DisordersNephrologyNeurology
Author(s): Rolfs, Prof. Arndt, MD, Hermann, Andreas, MD, Giese, Anne Katrin, MD, Lukas, Jan, PhD, Cozma, Dr. rer. nat. Claudia, MD, Bräuer, Anja, PhD, Seemann, Susanne, Knospe, Anne-Marie, Ernst, M, Cimmaruta, Chiara, Struckmann, Stephan, Koczan, Dirk, Haake, LR, Citro, Valentina, Andreotti, Giuseppina, Cubellis, Maria, Fuellen, Georg
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Understanding DNA Alterations in Colorectal Cancer

Germline and somatic DNA alterations may cause inherited diseases and/or cancer. While CENTOGENE’s routine diagnostic focus is on the former, we frequently address oncological questions in research settings. Deep sequencing of colorectal tumors in one such project provided unprecedented insights into the evolution of this type of cancer. The findings were recently published in Modern Pathology.

Germline and somatic DNA alterations may cause inherited diseases and/or cancer. While CENTOGENE’s routine diagnostic focus is on the former, we frequently address oncological questions in research settings. Deep sequencing of colorectal tumors in one such project provided unprecedented insights into the evolution of this type of cancer. The findings were recently published in Modern Pathology.

OncologyWES
Author(s): Kandaswamy, Krishna Kumar, PhD, Bauer, Dr. Peter, MD, Hühns, Maja, Nürnberg, Sylvia, Maletzki, Claudia, Prall, Friedrich
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A Novel Genetic Syndrome

Standard genome-scale diagnostics fail to identify a pathogenic variant in up to 50% of patients. CENTOGENE’s free-of-charge ‘research analysis’ of such cases frequently provides strong evidence for yet undescribed gene-disease associations. As a recent example, bi-allelic loss-of-function variants in the VPS26C gene were identified as the likely cause for a novel neuro-skeletal syndrome. These findings were published in Clinical Genetics.

Standard genome-scale diagnostics fail to identify a pathogenic variant in up to 50% of patients. CENTOGENE’s free-of-charge ‘research analysis’ of such cases frequently provides strong evidence for yet undescribed gene-disease associations. As a recent example, bi-allelic loss-of-function variants in the VPS26C gene were identified as the likely cause for a novel neuro-skeletal syndrome. These findings were published in Clinical Genetics.

BiodatabankDysmorphologyNeurologyWGS
Author(s): Bauer, Dr. Peter, MD, Suleimann, Jehan, PhD, El-Hattab, Ayman, MD, Beetz, Christian, Karageorgou, Vasiliki, Ameziane, Najim, Kdissa, Ameni, Sutton, Vernon R
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