Jim Hughes

  • Professor
  • University of Oxford

Title of the talk: Understanding the “Dark Matter” of the human genome.

Genetics, molecular biology and the biological sciences in general have undergone a technical revolution over the last decade, due to our ability to sequence and reconstruct a human’s complete genetic blueprint at will. Driven by technical advances such as high-throughput sequencing technologies (HTS) we can investigate, on the scale of the whole genome, how and in what situations particular parts of that blueprint are activated. These mechanisms control the activity of genes and are in embedded in the non-coding “Dark Matter” of the genome. This Dark Matter represents 98% of our genomes and contains most of the genetic variance that predisposes us to common diseases such as, heart disease, cancer, autoimmune and infectious diseases. The complexity and highly dynamic nature of this genomic Dark Matter means that a fusion of advanced molecular, genome engineering, computational and machine learning approaches are needed to understand its function in health and disease.




Originally a biochemist I became fascinated early on by genetics and molecular biology and undertook a PhD at Oxford identifying and cloning genes responsible for inherited diseases, in the pre-genome era. My interests shifted from gene structure and function to gene regulation, which underlies a very large proportion of human disease predisposition. After the sequencing of the human genome I realized that computational skills would become essential to understand the human genome and I retrained in the early 2000’s as a bioinformatician.  The group I set up and run in Oxford reflects this and uses molecular, genome engineering and synthetic biology approaches combined with bioinformatics and Machine Learning to investigate gene activity in health and disease.