The Translational Research Working Group
WG purpose and aims
The overarching goal of the Translational working group is to help translate the success story of the GWAS ventures of the ISGC into molecular mechanistic insight including, but not limited to, molecular signatures, biological pathways, and ultimately drug targets. In particular this research is focused on the molecular analysis of genetic variants using a variety of model systems and approaches to determine how they act to leverage the fundamental insight gained into mechanism-based treatments.
What does the WG do?
We are a group of statistical and molecular geneticists, molecular and cell biologists, model-systems specialists, and neurologists who share the common goal of linking genetic discoveries in stroke and cerebrovascular disease to molecular signatures, biological pathways, and ultimately drug targets. Our work focuses on determining the biological relevance and mechanism of genetic variants, and how they might be harnessed to design therapeutic strategies to improve the lives of individuals and families affected by stroke and its many chronic cerebrovascular manifestations.
Past successes/output
Examples of current projects include fine mapping and annotation of genome-wide loci in intracerebral hemorrhage and cerebral small vessel disease, defining cell-specific signatures in familial and sporadic forms of collagen vascular disease, and developing and utilizing animal models of small vessel disease, microinfarcts and hemorrhage in sickle cell disease.
For instance Chris Anderson and Tom Van Agtmael attracetd NIH and UKMRC funding to investigate genetic mechanisms of collagen IV variants in intracerebral haemorrhage. This identified that in addition to common risk alleles (PMID:31430377) rare variants in collagen IV contribute to sporadic small vessel disease and intracerebral haemorrhage (PMID: 34031201) and mechanistic work in mice and human brain revealed that reduced levels of collagen IV can lead to small vessel disease by altering endothelium mediated vasodilation and vascular hypertrophy (PMID: 39216230) .
WG lead
Tom Van Agtmael (University of Glasgow), Hyacinth Hyacinth (University of Cincinnati), Chris Anderson (Massachusetts General Hospital)
We are always open to discuss and exploit new opportunities, so if you would like to join us or discuss any opportunities for future project please get in touch via this link. While some of us may have a long standing interest in particular proteins and disease, our expertise and experiences lends itself to being applicable across a multitude of gene, proteins and human diseases and we are always keen to discuss future opportunities and exploit these by working with you.