Predisposition and Screening community

The human genome holds three billion base pairs of DNA, uniquely arranged to shape our individual characteristics and health. Alterations in the genetic code can directly cause or predispose individuals and families to rare diseases and cancer, as well as dictate the efficacy and toxicity of treatments, and influence co-morbidities. Genome sequencing provides a powerful tool to identify individuals at higher risk of developing disease and facilitates the accurate early diagnosis and personalized treatment that can radically improve patient life quality and prognosis. The Predisposition and Screening community will analyse genome data from families and individuals in the NGRL, including participants in the Generation Study and Diverse Data initiative, to identify de novo and inherited variants causing or predisposing to disease in diverse ancestries.

• To identify de novo and inherited variants predisposing to disease or impact longitudinal disease progression, research for comorbidities and oligogenic and polygenic risk.
• To understand genetic epidemiology and assessment of effect of ancestry on predisposing variants and risk.
• To appreciate the differences in genomically mediated risk between general population and families affected by rare genetic diseases.
• To generate and refine polygenic risk scores for use in individuals and families as well as the general population.
• To promote development of population/public health screening strategies incorporating clinical and genomic data in novel AI-led models.
• To engage in cross-community collaborations and enhance interactions among Research Network members with complementary research interests.