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Oligogenic pathomechanisms in neurodevelopmental disorders

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Lay summary

For a large fraction of patients with neurodevelopmental disorders (NDD) who are undergoing genome analysis, a gene variant can be identified that is clearly considered to be the reason of the disease. This implies that there is still a relevant fraction of patients for which this cannot be achieved. The health status of these patients is typically unclear for decades, and a final clarification of their disease can bring great relief to the patients themselves and to their families.
It is very likely that the diagnostic failure in these cases is due to a more complex genetic cause than only one single gene variant. Instead, several gene variants inherited from both mother and father in a new combination could be the reason for the disease. While it has been scientifically very challenging to identify a specific disease-causing combination of gene variants in a patient, the Genomics England program provides for the first time a sufficiently large cohort of NDD patients to systematically search for such potential multi-gene signatures in their genomes.
Our research can provide relief to some individual patients by clarifying the genetic causes of their disease. Moreover, it will showcase a fundamentally new data-driven approach for genome analysis in NDD and other rare diseases.

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