Dr Basudha Basu

My research interests encompass stem cell and developmental biology and I have long-standing interest in understanding cilia function in disease and development.

My current work focuses on modelling inherited retinal disease using induced pluripotent stem cells (iPSCs). I use CRISPR- Cas9 to introduce specific patient mutations and then differentiate these cells into retinal cell types.

The primary cell types I am interested in are the retinal pigmented epithelium and the photoreceptors that develop within retinal organoids. I differentiate these from iPSCs using a panel of growth factors over a period of a few months. Once differentiated, they provide an excellent disease model for downstream studies.  I analyse these for morphological abnormalities and then subject them to a battery of functional assays in order to understand the underlying mechanisms of the disease phenotype.

I have most recently published my work on PRPF31 and am currently working on four other genes involved in retinal degeneration including the myophosphorylase, PYGM, which causes McArdle disease and is associated with retinopathy.