Monogenic Network
About the Monogenic Network
The Monogenic Network aims to identify novel genetic causes of apparently monogenic Parkinson’s disease (PD) – forms of PD where pathogenic variants in a single PD-linked gene are considered causative of the disease. The Monogenic Network is comprised of the groups Sample Prioritization, Data Analysis, and Portal Development.
Leveraging GP2’s global network of researchers contributing patient samples, the Monogenic Network will collect thousands of patients and relatives from families in whom a monogenic cause is suspected. Emphasis will be placed on families from underrepresented populations. All currently known PD genes have been found in various populations around the globe, however, some occur at highly variable and population-specific frequencies. The most striking example being the G2019S mutation in the LRRK2 gene. In addition, it is conceivable that population-specific hereditary forms of PD may exist, as exemplified by X-linked dystonia-parkinsonism, a condition exclusively present in patients of Filipino ancestry.
The Monogenic Network will collect families and single cases, as well as parent-offspring trios, through the Monogenic Portal. These will be prioritized by Sample Prioritization for whole-genome sequencing or long-read sequencing based on a number of different criteria, such as family history, availability of samples from several affected family members, age at onset and ethnicity. The Data Analysis group will analyze genome data for the presence of potentially novel pathogenic variants.
The Monogenic Network invites collaborators to participate in the Network's open meetings once a month.
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Active
- Monogenic Network website and Monogenic Portal developed and online
- Collected ~4,000 samples eligible for inclusion into the Monogenic Network
- Recruited over 70 centers to participate
- Developed and established genetic analysis pipeline
- Welcomed over 15 visitors and trainees at different research institutions of members of the Monogenic Network
- Established the Return of results working group within the Monogenic Network
Es wurden ca. 4.000 Proben gesammelt, die in das monogene Netzwerk aufgenommen werden können.
Aktiv