Dr Cecilia Dominguez Conde is a postdoctoral fellow at the Teichmann Lab, Wellcome Sanger Institute. During her PhD, she discovered DOCK2 and POLD immunodeficiencies, and her current work focuses on studying the human immune system across different body sites and unravelling the clonal distributions of T and B lymphocytes. Cecilia is speaking at this years Festival of Genomics, and we found out what she’s looking forward to the most.
FLG: Can you introduce yourself and your work?
I’m a postdoctoral immunologist at the Wellcome Sanger Institute working in the Human Cell Atlas (HCA) initiative, an international consortium whose mission is to create comprehensive reference maps of all human cells – the fundamental units of life – as a basis for both understanding human health and diagnosing, monitoring, and treating disease. In my project, I’m harnessing single-cell genomics to understand the differences between immune cell types in different tissues across the human body.
FLG: What motivated you to pursue a career in this field?
I’m fascinated by the immune system and how it works, and through single cell genomics, we can discover which genes are active in individual cells and identify what is happening in each immune cell. My main drive is to use this knowledge to better manage disease. Immune cells play a determining role in a number of human conditions and I think that using genomics to unravel their function is a powerful strategy.
FLG: What do you enjoy the most about the work you’re doing?
I’m really enjoying working with outstanding colleagues from various disciplines. The HCA is a massive collaborative effort where more than 1,400 scientists from over 60 countries have come together to work towards a common goal. Also, I find it amazing that we are able to deconstruct tissues into individual cells and, through sequencing, get a comprehensive view of tissue function and differentiation. Being part of this exciting endeavour that promises to transform healthcare is an honour and a great responsibility.
FLG: What are some challenges that you face in your work?
The two challenges I will mention relate to tissue processing and data analysis. From the wet-lab side of things, choosing the optimal approach to dissociate tissues into single-cell suspensions is fundamental. Different protocols will affect the cell types that we extract from the tissues and that we ultimately sequence. Selecting the protocol that better suits your question of interest is therefore of utmost importance. From the data analysis perspective, some of the challenges come from dealing with ever-increasing dataset sizes, resource-intensive computations and integration of multiple datasets.
FLG: Why are we seeing an increase in the demand for genetic data?
When considering genetic data in the context of biomedical research, genetics is providing information for therapeutic interventions, for instance in putting patients into specific groups according to predicted drug responses. Even in conditions where no treatment is available, being able to understand the cause of disease is often rewarding for patients and their families. The incorporation of single-cell genomics into this landscape is leading to insights into the cell-specific molecular mechanisms underlying different pathologies.
FLG: What do you think is the most exciting thing happening in genomics right now?
The development of multimodal and spatial sequencing techniques, and all the data integration methods that come along with them, is really exciting. On the one hand, the multimodal techniques allow the parallel measurement of several molecular entities, such as RNA and accessible chromatin, and this will be key to understand their inter-relationships. On the other hand, the spatial sequencing methods are bringing together histology and genomics enabling the identification of gene expression patterns across specific tissue sub-structures.
FLG: What breakthroughs do you see happening in 12 months or 5 years?
The spatial sequencing methods are increasing in resolution as we speak, with current spatial transcriptomics methods achieving a 50um resolution. In the coming year, we may see these techniques achieving single-cell resolution. In the longer term, I envision that, using the HCA as a gold-standard reference, a number of rare genetic conditions may be diagnosed and their molecular mechanisms illuminated using single-cell genomics approaches.
FLG: Why are you speaking at the Festival of Genomics this year?
My talk at FoG2020 will aim to share the pioneering work of the HCA, a consortium that promises to bring human physiology to a completely new level of breadth and resolution. I think the Festival of Genomics is the perfect platform to reach out to different communities that could contribute to the HCA and also benefit from the outcome of our work. I would be happy to connect and share ideas with potential collaboration partners.