Dr Sebastian S. Gerety
Principal Staff Scientist
Sebastian is currently co-heading the effort to scale the generation of variant effect maps at Sanger, applying Saturation Genome Editing (SGE) to genes associated with neurodevelopmental disorders (NDD). By comprehensively assessing the functional impact of every possible single nucleotide variant across a gene, SGE generates data at a depth and scale that was previously unattainable. These maps serve a dual purpose: clinically, they enable the resolution of the majority of Variants of Uncertain Significance encountered in diagnostic settings and scientifically, they provide a rich resource for exploring protein structure-function relationships, the mechanistic consequences of pathogenic variants, and the regulatory architecture of disease-relevant genes.
Since joining the Hurles group in 2011, and as part of the Deciphering Developmental Disorders project, Sebastian has applied his knowledge of vertebrate genetics and development to understand the role of novel disease genes underlying developmental disorders. Sebastian spearheaded the application of CRISPR/Cas9 in zebrafish and mouse at the Sanger Institute, generating Sanger’s first mutant animals using this technique. This work, alongside similar approaches in iPSC lines, has provided a broad platform to examine the mechanisms, molecular outcomes, and potential therapeutic targets in neurodevelopmental disorders.
Prior to joining the Sanger Institute, Sebastian worked under the direction of Dr. Eric Lander at the Whitehead/MIT Center for Genome Research in Cambridge, USA, where his involvement in the Human Genome Project first sparked his interest in genomics and large-scale biology. He went on to complete his PhD in Developmental Biology at the California Institute of Technology under HHMI investigator Dr. David Anderson, studying the role of artery and vein specific genes in mouse embryonic angiogenesis and identifying a crucial role for the EphB4/EphrinB2 receptor/ligand pair in blood vessel development. Sebastian then pursued an HFSP post-doctoral fellowship under Dr. David Wilkinson at the National Institute for Medical Research, London, using zebrafish embryos as a model to study the role of Notch modulators and novel genes in the patterning of brain development.
My timeline
Joined the Hurles faculty group at the Wellcome Trust Sanger Institute as Senior Staff scientist in charge of experimental modeling of human rare disease
Joined Dr. David Wilkinson's lab at the National Institute for Medical Research, London for post doctoral work
Graduated from California Institute of Technology with a PhD in Developmental Biology
Joined Dr. David Anderson's Lab at the California Institute of Technology for PhD thesis
Joined Dr Eric Lander at Whitehead/M.I.T. to work on Human Genome Project