Centogene N.V. (Nasdaq: CNTG), the essential life science partner
for data-driven answers in rare and neurodegenerative diseases,
today 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
About CENTOGENE
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.
To discover more about our products, pipeline, and
patient-driven purpose, visit www.centogene.com and follow us on
LinkedIn.
Forward-Looking Statements
This press release contains “forward-looking statements” within
the meaning of the U.S. federal securities laws. Statements
contained herein that are not clearly historical in nature are
forward-looking, and the words “anticipate,” “believe,”
“continues,” “expect,” “estimate,” “intend,” “project,” “plan,” “is
designed to,” “potential,” “predict,” “objective” and similar
expressions and future or conditional verbs such as “will,”
“would,” “should,” “could,” “might,” “can,” and “may,” or the
negative of these are generally intended to identify
forward-looking statements. Such forward-looking statements involve
known and unknown risks, uncertainties, and other important factors
that may cause CENTOGENE’s actual results, performance, or
achievements to be materially different from any future results,
performance, or achievements expressed or implied by the forward-
looking statements. Such risks and uncertainties include, among
others, negative economic and geopolitical conditions and
instability and volatility in the worldwide financial markets,
possible changes in current and proposed legislation, regulations
and governmental policies, pressures from increasing competition
and consolidation in our industry, the expense and uncertainty of
regulatory approval, including from the U.S. Food and Drug
Administration, our reliance on third parties and collaboration
partners, including our ability to manage growth, execute our
business strategy and enter into new client relationships, our
dependency on the rare disease industry, our ability to manage
international expansion, our reliance on key personnel, our
reliance on intellectual property protection, fluctuations of our
operating results due to the effect of exchange rates, our ability
to streamline cash usage, our continued ongoing compliance with
covenants linked to financial instruments, our requirement for
additional financing, and our ability to continue as a going
concern, or other factors. For further information on the risks and
uncertainties that could cause actual results to differ from those
expressed in these forward-looking statements, as well as risks
relating to CENTOGENE’s business in general, see CENTOGENE’s risk
factors set forth in CENTOGENE’s Form 20-F filed on May 16, 2023,
with the Securities and Exchange Commission (the “SEC”) and
subsequent filings with the SEC. Any forward-looking statements
contained in this press release speak only as of the date hereof,
and CENTOGENE specifically disclaims any obligation to update any
forward-looking statement, whether as a result of new information,
future events, or otherwise.
CONTACT
CENTOGENE
Melissa HallCorporate Communications Press@centogene.com
Lennart StreibelInvestor Relations IR@centogene.com
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