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Scientific Publications

Curious About the Latest Scientific Discoveries?

Understanding Neurodegeneration in Niemann-Pick Disease

Niemann-Pick (NP) disease is a lysosomal storage disorder that involves the degeneration of certain neurons. A recent study, co-authored by CENTOGENE’s CEO Prof. Arndt Rolfs, investigated this process using an electrophysiological approach. The findings of disturbed synaptic signaling open up novel therapeutic options; they were published in the International Journal of Molecular Sciences.

Niemann-Pick (NP) disease is a lysosomal storage disorder that involves the degeneration of certain neurons. A recent study, co-authored by CENTOGENE’s CEO Prof. Arndt Rolfs, investigated this process using an electrophysiological approach. The findings of disturbed synaptic signaling open up novel therapeutic options; they were published in the International Journal of Molecular Sciences.

Neurology
Author(s): Rolfs, Prof. Arndt, MD, Hermann, Andreas, MD, Frech, Moritz J, PhD, Rabenstein, Michael, Murr, Nico
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Characterization of an Ultra-Rare Disorder

Novel gene-disease associations are continuously being proposed, but the underlying evidence is frequently based on only a few patients from a single family. CENTOGENE’s focus on rare disease diagnostics has enabled us to internally confirm many pertinent observations. For a rare form of intellectual disability, we recently reported our corresponding clinical genetic data in the European Journal of Human Genetics.

Novel gene-disease associations are continuously being proposed, but the underlying evidence is frequently based on only a few patients from a single family. CENTOGENE’s focus on rare disease diagnostics has enabled us to internally confirm many pertinent observations. For a rare form of intellectual disability, we recently reported our corresponding clinical genetic data in the European Journal of Human Genetics.

BiodatabankNeurologyWESWGS
Author(s): Rolfs, Prof. Arndt, MD, Bertoli-Avella, Aida M., MD, Kandaswamy, Krishna Kumar, PhD, Bauer, Dr. Peter, MD, Lourenço, C.M., Beetz, Christian, Rocha, Maria Eugenia, Silveira, Tainá Regina Damaceno, Sasaki, Erina, Sás, D M, Reardon, Dr. Willie
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An Unorthodox Disease Mechanism

Essential proteins are defined as those that are necessary for living. In theory, homozygous loss-of-function variants that only affect certain isoforms may still be found in living individuals. A recent study involving patients that were identified at CENTOGENE presents one of the first examples of a disease-relevance of this rare constellation. It was published in the highly prestigious journal, Acta Neuropathologica.

Essential proteins are defined as those that are necessary for living. In theory, homozygous loss-of-function variants that only affect certain isoforms may still be found in living individuals. A recent study involving patients that were identified at CENTOGENE presents one of the first examples of a disease-relevance of this rare constellation. It was published in the highly prestigious journal, Acta Neuropathologica.

BiodatabankNeurologyWESWGS
Author(s): Bertoli-Avella, Aida M., MD, Kandaswamy, Krishna Kumar, PhD, Bauer, Dr. Peter, MD, van Slegtenhorst, Marjon, Efthymiou, Stephanie, BSc MSc PhD, Zafar, Faisal, Rana, Nuzhat, Houlden, Henry, MD PhD, Maroofian, Reza, PhD, Doosti, Mohammad, PhD, Karimiani, Ehsan Ghayoor, MD MRes PhD, Perenthaler, Elena, MSc, Nikoncuk, Anita, Yousefi, Soheil, Ph.D, Berdowski, Woutje M, Alsagob, Maysoon, MSc, Capo, Ivan, van der Linde, Herma C., van den Berg, Paul, Jacobs, Edwin H., Putar, Darija, Ghazvini, Mehrnaz, PhD, Aronica, Eleonora, MD, PhD, Van IJcken, Wilfred, Dr ir, de Valk, Walter G., Medici-van den Herik, Evita, Brick, Lauren, Kozenko, Mariya, Kohler, Jennefer N., Bernstein, Jonathan, MD, Monaghan, Kristin G, Begtrup, Amber, Torene, Rebecca I., Al Futaisi, Amna, MD, FRCPC, FRCPCH, Al Murshedi, Fathiya, Mani, Renjith, Al Azri, Faisal, Kamsteeg, Erik-Jan, Mojarrad, Majid, Eslahi, Atieh, Khazaei, Zaynab, Darmiyan, Fateme Massinaei, Vandrovcova, Jana, Hertecant, Jozef, Salih, Mustafa, MD, Dr Med Sci, FRCPCH, FAAN, Aldosary, Mazhor, Almass, Rawan Mohammedomar, AlMuhaizea, Mohammed A., Al-Quait, Laila, Qubbaj, Wafa, Coskun, Serdar, Alahmadi, Khaled O., Hamad, Muddathir H. A., Alwadaee, Salem, Awartani, Khalid, Dababo, Anas M., Dehghani, Mohammadreza, MD, PhD, Mehrjardi, Mohammad Yahya Vahidi, Colak, Dilek, Almohanna, Futwan, Gunel, Murat, Ercan-Sencicek, Ad Gulhan, PhD, Cheema, Huma Arshad, Passi, Gouri Rao, Brooks, Alice S, Retterer, Kyle, Kaya, Namik, MSc, PhD, Barakat, Tahsin Stefan, PhD, MD, Van Ham, Tjakko J
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Disease relevance of alternative splicing

Alternative splicing of genes usually generates several isoforms. These may code for slightly differing proteins, the disease relevance of which is often not clear. Researchers from CENTOGENE, by reporting a representative example, emphasized the resulting challenges in a recent study. They published their findings in the Journal of Human Genetics.

Alternative splicing of genes usually generates several isoforms. These may code for slightly differing proteins, the disease relevance of which is often not clear. Researchers from CENTOGENE, by reporting a representative example, emphasized the resulting challenges in a recent study. They published their findings in the Journal of Human Genetics.

BiodatabankDysmorphologyWESWGS
Author(s): Yüksel, Zafer, MD, Rolfs, Prof. Arndt, MD, Brandau, Oliver, MD, Bauer, Dr. Peter, MD, Westenberger, Ana, PhD, Grüning, Nana-Maria, Abbasi Moheb, Lia, Beetz, Christian, Al-Kindi, Adila, Al-Shehhi, Maryam, Scott, Patrick
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Diagnostic Utility of Biomarkers

Classification of genomic variants in a disease context is a highly formalized process, which benefits from diverse types of information. At CENTOGENE, this routinely involves the quantification of disease-specific biomarkers in a patient sample. The utility of this approach for deriving an unambiguous diagnostic statement was recently demonstrated in the Journal of Biochemical and Clinical Genetics.

Classification of genomic variants in a disease context is a highly formalized process, which benefits from diverse types of information. At CENTOGENE, this routinely involves the quantification of disease-specific biomarkers in a patient sample. The utility of this approach for deriving an unambiguous diagnostic statement was recently demonstrated in the Journal of Biochemical and Clinical Genetics.

BiodatabankBiomarkerMetabolic Disorders
Author(s): Rolfs, Prof. Arndt, MD, Cozma, Dr. rer. nat. Claudia, MD, Schröder, Sabine, Beetz, Christian, Miyanawala, Vindhya Lakmali, Waidyanatha, Samantha, Jasinge, Eresha, Karageorgou, Vasiliki
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Novel Insights into a Rare Disorder

A profound understanding of rare genetic disorders relies on the description of large numbers of patients. Based on its unique positioning in the rare disease field, CENTOGENE can significantly contribute on multiple levels. This is exemplified by a recent corresponding study in the Journal of Neurology.

A profound understanding of rare genetic disorders relies on the description of large numbers of patients. Based on its unique positioning in the rare disease field, CENTOGENE can significantly contribute on multiple levels. This is exemplified by a recent corresponding study in the Journal of Neurology.

BiodatabankMetabolic DisordersNeurologyWESWGS
Author(s): Rolfs, Prof. Arndt, MD, Klein, Prof. Christine, MD, Kandaswamy, Krishna Kumar, PhD, Lohmann, Katja, PhD, Brüggemann, Norbert, MD, Tadic, Vera, MD, Werber, Martin, Münchau, Alexander, MD, Dobricic, Valerija, PhD, Trinh, Joanne, Phd, Dulovic Mahlow, Marija, Nolte, Achim, Schäfer, Jochen, Imhoff, Sophie
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Novel Genetic Cause for Neurodevelopmental Defects

Many proteins are crucial for proper brain development. By showing that certain neurodevelopmental defects are associated with mutations in TMX2, this study adds an enzyme of the redox signaling pathway to the list of vital proteins. These findings, which were partially based on data generated at CENTOGENE, were published in the American Journal of Human Genetics.

Many proteins are crucial for proper brain development. By showing that certain neurodevelopmental defects are associated with mutations in TMX2, this study adds an enzyme of the redox signaling pathway to the list of vital proteins. These findings, which were partially based on data generated at CENTOGENE, were published in the American Journal of Human Genetics.

BiodatabankNeurologyWESWGS
Author(s): Bertoli-Avella, Aida M., MD, Al Hashem, Amal, Keren, Boris, PhD, MD, Tan, Wen-Hann, MD, Vandervore, Laura V., Schot, Rachel, Milanese, Chiara, PHD, Smits, Daphne J., Kasteleijn, Esmee, Fry, Andrew E., Pilz, Daniela T., Brock, Stefanie, Börklü-Yücel, Esra, Post, Marco, Bahi-Buisson, Nadia, MD PhD, Sánchez-Soler, María José, van Slegtenhorst, Marjon, Afenjar, Alexandra, Coury, Stephanie A., Oegema, Renske, MD, de Vries, Linda S., Fawcett, Katherine A., Nikkels, Peter G J, Dr., Alwabel, Abdulmalik A., Tlili-Graiess, Kalthoum, Efthymiou, Stephanie, BSc MSc PhD, Zafar, Faisal, Rana, Nuzhat, Bibi, Farah, Houlden, Henry, MD PhD, Maroofian, Reza, PhD, Person, Richard, Crunk, Amy, Savatt, Juliann M., Turner, Lisbeth, Doosti, Mohammad, PhD, Karimiani, Ehsan Ghayoor, MD MRes PhD, Saadi, Nebal Waill, Akhondian, Javad, Lequin, Maarten H., Kayserili, Hülya, Van der Spek, Peter J., Prof. Dr. Ing., Jansen, Anna C., Kros, Johan M., Verdijk, Robert, MD PhD, Jovanov-Milošević, Nataša, PhD Associate Professor, Fornerod, Maarten, Mastroberardino, Pier Giorgio, Mancini, Grazia M. S.
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A controversy in Parkinsonism research

Parkinson disease (PD) can be associated with mutations that are usually found in patients with Gaucher disease (GD). Treatment options for GD are therefore considered also for PD, but there are reasons to question this approach. A pertinent commentary by experts in the field, which included the CEO and the CSO of CENTOGENE, was recently published in the journal Movement Disorders.

Parkinson disease (PD) can be associated with mutations that are usually found in patients with Gaucher disease (GD). Treatment options for GD are therefore considered also for PD, but there are reasons to question this approach. A pertinent commentary by experts in the field, which included the CEO and the CSO of CENTOGENE, was recently published in the journal Movement Disorders.

Metabolic DisordersNeurology
Author(s): Rolfs, Prof. Arndt, MD, Bauer, Dr. Peter, MD, Dinur, Tama, PhD, Zimran, Ari, MD, Arkadir, David, Dr., Sidransky, Ellen, Lopez, Grisel
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A new biomarker function for a long-known hormone

Adiponectin is a hormone with well-known relevance to cardiac and renal function. As Fabry disease (FD), a rare metabolic disorder, often manifests with cardiac and/or renal symptoms, researchers at CENTOGENE examined a potential link to adiponectin. Their finding of plasma adiponectin levels to correlate with heart and kidney damage in FD patients were published in the journal Blood Cells, Molecules, and Diseases.

Adiponectin is a hormone with well-known relevance to cardiac and renal function. As Fabry disease (FD), a rare metabolic disorder, often manifests with cardiac and/or renal symptoms, researchers at CENTOGENE examined a potential link to adiponectin. Their finding of plasma adiponectin levels to correlate with heart and kidney damage in FD patients were published in the journal Blood Cells, Molecules, and Diseases.

BiomarkerCardiovascularEndocrinologyMetabolic DisordersNephrologyNeurology
Author(s): Rolfs, Prof. Arndt, MD, Elstein, Deborah, Cozma, Dr. rer. nat. Claudia, MD, Hovakimyan, Marina, PhD, Beetz, Christian, Talabattula, VAN
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An unusual Gaucher family

Comprehensive clinical, biochemical and genetic screening reveals four distinct GBA genotypes as underlying variable manifestation of Gaucher disease in a single family

A family in which all individuals over two generations suffer from an unexplained phenotype was recently referred to CENTOGENE for diagnostic workup. Comprehensive biochemical and genomic screening revealed the presence of four distinct GBA gene genotypes, each leading to Gaucher disease. This highly unusual constellation was published in the journal Molecular Genetics and Metabolism Reports.

BiodatabankBiomarkerMetabolic DisordersMultiomics
Author(s): Rolfs, Prof. Arndt, MD, Bauer, Dr. Peter, MD, Beetz, Christian, Cullufi, Paskal, Tabaku, Mirela, Tomori, S, Velmishi, Virtut, MD, Gjikopulli, A, Wirth, S
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Extended application of an old medication

Pharmacologic properties of high-dose ambroxol in four patients with Gaucher disease and myoclonic epilepsy

While ambroxol has been in medical use for respiratory diseases for over 40 years, its recently understood mode of action suggests a wider applicability. For Gaucher disease (GD), a metabolic disorder, ambroxol has now been shown to improve neurological symptoms, and to reduce the levels of CENTOGENE’s GD-specific biomarker Lyso-Gb1. The study was published in Journal of Medical Genetics.

BiomarkerMetabolic Disorders
Author(s): Rolfs, Prof. Arndt, MD, Zimran, Ari, MD, Cozma, Dr. rer. nat. Claudia, MD, Yum, Mi-Sun, Heo, Sun Hee, Kim, Taeho, Jin, Hee Kyung, Bae, Jae-sung, Seo, Go Hun, Oh, Arum, Yoon, Hee Mang, PhD, Lim, Hyun Taek, Kim, Hyo-Won, MD, PhD, Ko, Tatiana, Lim, Hyeong-Seok, Osborn, Mark, PhD, Kim, Yoon-Myung, Tolar, Jakub, Lee, Pr. Beom Hee, Yoo, Han-Wook, MD, PhD
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New genetic cause of severe heart disease

Heart disease is a clinically and genetically diverse condition. In two siblings with a fatal outcome, compound heterozygosity for variants in the ASNA1 gene was identified as the only plausible cause upon exome sequencing at CENTOGENE.

Heart disease is a clinically and genetically diverse condition. In two siblings with a fatal outcome, compound heterozygosity for variants in the ASNA1 gene was identified as the only plausible cause upon exome sequencing at CENTOGENE. Functional data that were contributed by academic collaborators further supported causality of the variants. The new gene-disease association was published in Circulation – Genomic Precision Medicine.

BiodatabankCardiovascularWES
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Disturbed lipid metabolism causes congenital disease

Lipid metabolism is crucially involved in embryonic development, and recent research uncovered yet another link.

Lipid metabolism is crucially involved in embryonic development, and recent research uncovered yet another link. Genetic screening revealed that inactivation of the enzyme sphingomyealinase-3 results in prenatal abnormalities, and in vitro studies defined the underlying pathophysiology. The study, to which CENTOGENE contributed significant genetic data, was published in the highly prestigious American Journal of Human Genetics.

BiodatabankNeurologyWESWGS
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Informing therapeutic decisions in a rare disorder

Therapy for Gaucher disease, a rare metabolic disorder, has been available for almost 30 years, but whether all patients should receive the costly treatment has remained controversial.

Therapy for Gaucher disease, a rare metabolic disorder, has been available for almost 30 years, but whether all patients should receive the costly treatment has remained controversial. Upon longitudinal analysis of untreated patients, those with mild disease have now been shown to remain clinically stable over a long time. This important finding, which is also reflected by CENTOGENE’s Gaucher-specific biomarker LysoGb1, was published in Journal of Clinical Medicine.

BiomarkerMetabolic Disorders
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Optimizing genetic diagnostics in childhood neurological disease

Costs for genetic testing correlate with comprehensiveness of the tests applied. Clinical exome sequencing (CES) represents an intermediate-cost and intermediate-comprehensiveness option.

Costs for genetic testing correlate with comprehensiveness of the tests applied. Clinical exome sequencing (CES) represents an intermediate-cost and intermediate-comprehensiveness option. In a recent study on 88 children that had been referred to CENTOGENE because of severe neurological phenotypes, CES was found to yield positive or potential diagnoses in >50% of cases. The finding was published in Journal of Child Neurology.

BiodatabankNeurologyWES
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