Dr. Hywel Williams

My research is focused on improving our understanding of the biological systems that when dysregulated lead to disease phenotypes in humans. Primarily I am working on rare diseases with an emphasis on neuro-related phenotypes. One of my main interests is how gene expression is regulated both spatially and temporally during development and, how DNA variation can influence this. To understand this will require knowledge of how the genome is organised in 3D space, which regions of the genome interact to regulate gene expression and, the full repertoire of variation each individual possesses within both the coding and non-coding genome. My aim is to improve our ability to make a diagnosis in the 50-60 % patients with a rare disease who currently remain undiagnosed and, armed with this knowledge, build a better understanding of the functional biology that leads to disease. In turn, this will improve our ability to develop new therapeutics to treat patients and in the future may even allow us to prevent these diseases form occurring. To achieve our goals will require us to work together as a community to share our data in an open and transparent way.