Completed Cells, Biochemistry & Physiology Genetics & Molecular Biology

Understanding Signalling Pathways Mutated in Inherited Disorders

In plain English

AI plain-English summary

Inside cells, a set of enzymes called kinases add chemical tags to proteins to switch their activity on or off—and when those tags go wrong, diseases like Parkinson’s, cancer, and high blood pressure can follow. This research programme aims to map the precise molecular wiring of three specific kinase pathways that are known to malfunction in these conditions: LRRK2 in Parkinson’s disease, SGK3 in cancer, and WNK in hypertension. While scientists know these pathways are involved, the exact chain of events—which proteins get tagged, in what order, and with what consequences—remains unclear. Filling in those gaps is essential for understanding why a mutation in a single kinase can trigger such different diseases. If the work succeeds, it could provide drug developers with clear molecular targets: a specific kinase to block in a tumour, or a particular protein interaction to stabilise in a neuron. The researchers plan to share their findings with clinicians and pharmaceutical companies, potentially leading to more precise diagnostics and treatments for conditions that affect millions of people. This is fundamental science with a clear translational path—the kind that turns a molecular diagram into a drug candidate.

View original technical description
My laboratory focuses on unravelling the roles played by an important class of enzymes that are implicated in human disease, that control a biological process known as “protein phosphorylation”. Many diseases including Parkinson’s disease, cancer and high blood pressure, are caused by alterations in specific pathways that regulate protein phosphorylation. My research programme will be based on deciphering the molecular details of protein phosphorylation pathways that are associated with Parkinson’s Disease (LRRK2), cancer (SGK3 pathway) and hypertension (WNK pathway). The overarching goal of our research is to discover how disruptions in enzymes that regulate phosphorylation are linked to human disease. We aim to harness this information and work with clinicians as well as pharmaceutical companies to develop improved strategies to better treat and diagnose malady.

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Researchers

Dario Alessi (Principal Investigator)

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Original classification

Intramural

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