CENTOGENE Data on Novel Genetic Risk Factor for Parkinson’s Disease in The Lancet Neurology
September 25 2024 - 7:00AM
Centogene N.V., the essential life science partner for data-driven
answers in rare and neurodegenerative diseases, today announced
data from the Company’s Rostock International Parkinson's Disease
(ROPAD), further supporting the association of a RAB32 gene
mutation with Parkinson's disease (PD). The study, published in The
Lancet Neurology, builds on research from Emil K. Gustavsson and
colleagues, who previously identified the RAB32 c.213C>G
(p.Ser71Arg; dbSNP rs200251693) variant as a novel monogenic cause
of PD.
In the ROPAD Study, Whole Genome Sequencing (WGS) data from
3,354 PD patients revealed that nine patients from Germany, Italy,
Spain, and Türkiye carried the RAB32 c.213C>G mutation. This
proportion of variant-positives — 0.3% of the cohort — is
significantly higher than the 0.002% found in general population
databases such as the Genome Aggregation Database.
"Over the past five years, CENTOGENE, alongside over 100 study
sites globally, have partnered to diagnose Parkinson's patients and
advance treatment options," said Prof. Peter Bauer, Chief Medical
and Genomic Officer at CENTOGENE. “Building on the initial insights
from Gustavsson and colleagues, we were able to dive into our ROPAD
cohort to develop a deeper understanding of RAB32 c.213C>G as a
cause for Parkinson’s and shed light on the way to a potential
cure. These types of game-changing insights are what we are
striving for every day.”
Key Findings:
- Nine ROPAD participants (0.3% of the
cohort) were heterozygous for the RAB32 c.213C>G mutation,
supporting the mutation's causal role in Parkinson’s disease
- Age at onset in mutation-positives
and mutation-negatives did not differ, while gender proportions and
certain clinical characteristics did
- The RAB32 Ser71Arg-associated
haplotype was as in the Gustavsson et al. study, supportive of a
single founder mutational event
These findings underscore the importance of RAB32 as an
important cause of Parkinson's disease.
“Our collaborative efforts have highlighted the critical impact
of genetics on Parkinson’s disease and emphasize the importance of
incorporating genetic testing into the standard care of these
patients,” said Christian Beetz, Senior Director Genomic Innovation
at CENTOGENE. “This will not only open doors to potential
treatments, but also expedite and mitigate risks in the development
of gene-targeted therapies – shaping the future of Parkinson’s
care.”
“The study results are a perfect reflection of the significance
of data and collaboration in establishing a deep disease
understanding,” adds Krishna Kumar Kandaswamy, Vice President of
R&D Bioinformatics at CENTOGENE. “By assembling the world's
largest genetic Parkinson’s disease cohort, we have gained
unprecedented insights that will fuel further research, clinical
development, and ultimately, improved patient outcomes.”
The Company recently launched a ROPAD Consortium to continue
driving PD research and treatment through collaborative efforts.
The ROPAD Consortium will build on the vast network of
neurologists, existing partnerships with non-profit organizations,
and the largest genetic testing program for PD patients worldwide
to streamline access to critical data, drive impactful research,
and improve the potential for advancing treatment options. To find
out more, email: contact.pharma@centogene.com
About ROPAD
The Rostock International Parkinson's Disease (ROPAD) Study is a
global epidemiological study focusing on the role of genetics in
Parkinson’s disease (PD). The major goal of the study is to
characterize the genetics of PD to establish a better understanding
of the disease etiology, diagnosis, and severity.
CENTOGENE utilizes CentoCard®, the Company’s proprietary,
CE-marked Dried Blood Spot (DBS) collection kit in combination with
state-of-the-art sequencing technologies to screen for mutations in
all known PD-associated genes. To date, over 18,000 participants
from around the world have been tested over a five-year period.
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
850,000 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 300 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.
Contacts:Melissa HallCENTOGENECorporate
Communications Press@centogene.com
Lennart StreibelCENTOGENEInvestor Relations
IR@centogene.com
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