Current projects

 

TranscriptionFunctions and mechanisms of gene regulation

We have developed several technologies to characterise and quantify transcriptome architecture as well as its functional impact. In particular, we are interested in the function and regulation of non-coding RNAs, antisense transcription, transcriptional heterogeneity, and the molecular phenotypes that arise from pervasive transcription. Recently, we discovered that translation and degradation occur in parallel on the same mRNA allowing ribosome movement to be captured.

Systems geneticsQuantitative genetics

We have piloted new technologies to dissect the genetic and environmental interactions that underlie complex, multifactorial phenotypes. We are interested in studying the consequences of genetic variation, learning to predict phenotype from genotype, and integrating multiple layers of molecular data to define intervention points that can be targeted to modulate phenotypes of interest.

 

YeastDisease models

Using multiple model systems, primarily yeast and human cells, we have characterised the genetic and cellular processes affected in certain diseases and assessed potential therapeutic strategies. We apply personalised functional genomics to study diseases in patient-derived cells using systematic and targeted approaches to unravel mechanisms and discover novel treatments (see video). We also develop point-of-care biosensors that monitor an individual’s health and facilitate early disease diagnosis and intervention, even before symptoms set in.

One of the diseases we are working on is familial dilated cardiomyopathy (DCM). Familial DCM is a genetic form of heart disease, which occurs when the heart muscle cannot contract normally, and therefore cannot pump blood efficiently. Over time, this leads to heart failure. Our vision is to develop a cure for DCM which would target the disease early and prevent it from arising or progressing. We seek to understand, monitor, and treat DCM at a molecular level, based on genetic predisposing factors. To achieve this, we are using models of DCM based on patient-derived induced pluripotent stem cells, as well as other mammalian models for molecular analysis and drug testing. If you would like to support this research, please click  here for information on donating to the Steinmetz Cardiomyopathy Fund.

 

Pictures: Copyright EMBL, Credits Petra Riedinger, 1. EMBL Conference Transcription and Chromatin, 2. EMBL Conference Cancer Genomics, 3. EMBL Conference Frontiers in Fungal Systems Biology