Alex Martin-Geary Research Group

Research in a Nutshell

Genome evolution has shaped life on earth. From rare, large-scale genetic events such as whole-genome duplications, to more common single nucleotide substitutions, the diversity of life on earth has been facilitated by genetic variation. 

Through comparative genomics we can trace the origins of important changes, identify critical regions essential to life, and pinpoint new variants that contribute to disease. Comparative genomics resources have therefore become commonplace in contemporary variant interpretation guidelines and diagnostic pipelines.

While this information has been invaluable in the interpretation of many genetic variants, most methods only work well on regions of DNA that make proteins and assume that important genetic elements will be shared across large evolutionary timeframes. Although this is true in many cases, non-protein-coding genes and regulatory elements are emerging as important untapped areas to find new genetic diagnoses and more recently evolved features critical to human-specific processes such as brain development, skeletal structure, and importantly - reproductive biology.

In collaboration with Prof. Joris Veltman, and Dr Margot Wyrwoll we draw together an understanding of evolution and gene-regulation, to identify genes and regions associated with male infertility and other genetic disorders and improve our ability to predict disease-causing variants. 

• Professor Joris Veltman, The University of Edinburgh, UK
• Dr Margot Wyrwoll, The University of Edinburgh, UK
• Dr Ruebena Dawes, Garvan Institute/Oxford, AUS/UK
• Associate Professor Nicola Whiffin, University of Oxford, UK
• Dr Giulio Formenti, Rockefeller University, USA
• Associate Professor Andreas Pfenning, Carnegie Mellon, USA