Centogene, University College London & Global Team of Researchers Discover Gene Associated With New Neurodevelopmental Disease Linked to Early Onset Dystonia & Parkinsonism

Centogene N.V. recently announced the discovery of a new form of early onset dystonia and parkinsonism in the context of neurodevelopmental abnormalities associated to the gene called ACBD6 (Acyl-CoA Binding Domain Containing 6) as part of an international team of researchers. The landmark study’s findings have been published in Brain, a leading, peer-reviewed scientific journal of neurology.

The study reports on 45 patients from 29 families and provides evidence that bi-allelic pathogenic variants in the ACBD6 gene lead to a distinct neurodevelopmental syndrome accompanied by complex and progressive cognitive and movement disorders. The clinical features were similar across all patients, and the study identified a recognizable clinical pattern that will help clinicians diagnose this disease.

“Over the last years, CENTOGENE played a key role in identifying relevant patients using Whole Exome Sequencing (WES) and providing genomic and phenotypic analysis as well as overall mapping of clinical data,” said one of the paper’s lead authors, Dr. Aida Bertoli-Avella, Head of Research Data Analysis at Centogene. “The findings have helped us gain a deeper understanding of neurological disorders – offering a next step towards advancing treatments and life-changing answers for these patients, their families, and the greater neurological disease community.”

To enhance their understanding of the disease’s mechanism, the research team has embarked on generating models that might help identify potential therapeutic targets. As the disease is associated with parkinsonism, a better understanding of the function of the ACBD6 gene through further studies could also shed light on genetic causes and pathways leading to Parkinson’s disease.

Dr. Reza Maroofian from the University College London Queen Square Institute of Neurology who led the project said “This study reinforces the value of close collaboration between research labs and accredited diagnostic laboratories, like Centogene, in finding precise molecular diagnosis for families affected by undiagnosed ultra-rare disorders. These collaborations are fundamental in advancing our understanding of genetic disorders and their underlying mechanisms.”

Prof. Peter Bauer, Chief Genomic Officer at CENTOGENE, added “Up until now, the genetic causes of neurological disorders have remained greatly unknown. This groundbreaking study has now not only helped us to understand a driving factor for 45 patients but has shed light on the way to a potential cure for a larger group of neurological disorders, and that is game changing. That is what we are striving for every day.”

To read the full study, visit https://link.centogene.com/Brain-Publication

Centogene’s mission is to provide data-driven, life-changing answers to patients, physicians, and pharma companies for rare and neurodegenerative diseases. We integrate multiomic technologies with the Centogene Biodatabank – providing dimensional analysis to guide the next generation of precision medicine. Our unique approach enables rapid and reliable diagnosis for patients, supports a more precise physician understanding of disease states, and accelerates and de-risks targeted pharma drug discovery, development, and commercialization.

Since our founding in 2006, Centogene has been offering rapid and reliable diagnosis – building a network of approximately 30,000 active physicians. Our ISO, CAP, and CLIA certified multiomic reference laboratories in Germany utilize Phenomic, Genomic, Transcriptomic, Epigenomic, Proteomic, and Metabolomic datasets. This data is captured in our CENTOGENE Biodatabank, with over 800,000 patients represented from over 120 highly diverse countries, over 70% of whom are of non-European descent. To date, the CENTOGENE Biodatabank has contributed to generating novel insights for more than 285 peer-reviewed publications.

By translating our data and expertise into tangible insights, we have supported over 50 collaborations with pharma partners. Together, we accelerate and de-risk drug discovery, development, and commercialization in target and drug screening, clinical development, market access and expansion, as well as offering CENTOGENE Biodata Licenses and Insight Reports to enable a world healed of all rare and neurodegenerative diseases. For more information, visit www.centogene.com.