Our team
We are a research group based at the MRC Human Genetics Unit interested in understanding how genetic changes in our DNA can impact the way we look, and can cause human disease.
Our environment
The Long lab is based within the vibrant and collaborative MRC Human Genetics Unit, part of the Institute of Genetics and Cancer at the University of Edinburgh.
Our values
As a group, we share values of inclusivity and being part of a diverse team. We are excited to work and collaborate with colleagues regardless of ethnicity, race, religion, gender, sexual orientation, gender identity, disability or background.
Our research
We are interested how complex organisms arise from a single cell during development. This fascinating process relies on the switching on and off genes at appropriate times during embryonic development. Alterations to this process can lead to the variation in appearance between individuals we see in the population, and in some cases can cause human disease.
We focus on investigating mechanisms of gene regulation during the formation of the face – one of the most fascinating and complex anatomical structures that forms during development. Our faces play incredibly important roles in perceiving the world, communicating with others, and contributing to our sense of self. The face forms during a relatively short window of development by complex morphological processes making it highly sensitive to genetic and environmental perturbation. Indeed, many human syndromes are associated with a characteristic facial appearance, with around one third of reported birth defects having a facial component.
Genes are packets of information housed in our chromosomes that encode the information to make proteins that carry out many functions of the cell, and we have around 20,000 genes in our genome. However, only 1% of our genome codes for information to make genes. In the lab, we are fascinated by the remaining 99% of our genetic material that is referred to as non-coding, and that instead of being ’junk’ contains a lot of important regulatory information. As an example, regulatory elements called enhancers reside in the non-coding portion of the genome and act to modulate when genes are turned on and off in a cell-type specific manner. In our previous work, we identified and characterised some extremely long-range enhancers that regulate an important developmental gene called SOX9 and we implicated loss of these elements in a human craniofacial disorder called Pierre Robin sequence.