As Senior Staff Scientist in the Hurles group in charge of animal and cellular modeling, Sebastian applies his background and expertise in vertebrate genetics and model organisms, to elucidate the links between candidate disease mutations and the phenotypes observed in affected patients. He is currently establishing a larger programme of molecular and cognitive testing of mouse models of intellectual disability.
Before embarking on a PhD, Sebastian worked under the direction of Dr. Eric Lander at the Whitehead/ MIT Center for Genome Research in Cambridge, USA. While working on the Human Genome Project there, he developped his interest in genomics and large scale biology.
Sebastian completed his PhD in Developmental Biology at the California Institute of Technology under the HHMI investigator Dr. David Anderson. While there, he studied the role of artery and vein specific genes in mouse embryonic angiogenesis, identifying a crucial role for the EphB4/EphrinB2 receptor/ligand pair in blood vessel development.
Sebastian pursued a Human Frontiers Science Program funded post-doctoral fellowship under Dr. David Wilkinson at the National Institute for Medical Research, in London. Using Zebrafish embryos as a model, he studied the role of notch modulators and novel genes in the patterning of brain development.
Sebastian joined the Hurles group in 2011. As part of the Deciphering Developmental Disorders project, Sebastian has applied is knowledge of vertebrate genetics and development to understand the role of novel disease genes underlying developmental disorders.
Sebastian has spearheaded the application of CRISPR/CAS9 in zebrafish and mouse at the Sanger Institute, generating our first mutant animals using this technique. He is currently applying CRISPR/CAS9 to accelerate the generation of mouse models of developmental disorders. These will feed into the larger programme of cognitive testing of intellectual disability in animal models at the institute, with an emphasis on therapeutic potential in these disorders.
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.
Nature genetics 2015;47;11;1363-9
Large-scale discovery of novel genetic causes of developmental disorders.
Rare variants in NR2F2 cause congenital heart defects in humans.
American journal of human genetics 2014;94;4;574-85
An inducible transgene expression system for zebrafish and chick.
Development (Cambridge, England) 2013;140;10;2235-43
Morpholino artifacts provide pitfalls and reveal a novel role for pro-apoptotic genes in hindbrain boundary development.
Developmental biology 2011;350;2;279-89
Cardiovascular ephrinB2 function is essential for embryonic angiogenesis.
Development (Cambridge, England) 2002;129;6;1397-410
Symmetrical mutant phenotypes of the receptor EphB4 and its specific transmembrane ligand ephrin-B2 in cardiovascular development.
Molecular cell 1999;4;3;403-14
An STS-based map of the human genome.
Science (New York, N.Y.) 1995;270;5244;1945-54