Our research will provide fundamental insights into the epigenetic mechanisms that underlie ataxia, developmental delay, autism, intellectual disability and executive dysfunction.
Mutations in CHD7 cause CHARGE syndrome, a syndrome that affects the development of multiple organs in the body. We have identified several critical roles for CHD7 in development of the cerebellum and our work has implicated CHD7 in cerebellar hypoplasia and medulloblastoma, the most common paediatric brain tumour.
Mutations in CHD8 cause autism, macrocephaly and intellectual disability. We have identified key, dosage-dependent roles for CHD8 in regulating autism-associated genes and brain growth.
We are taking novel, unbiased approaches to identify cell type-specific distal regulatory elements that control and fine-tune the expression of key neurodevelopmental genes in the cerebellum, in order to identify non-coding substrates for neurodevelopmental disorders.
Our research is funded by the Medical Research Council, Simons Foundation Autism Research Initiative (SFARI), CHARGE syndrome Foundation and the Anatomical Society.
Albert obtained his PhD from the University of Cambridge and underwent post-doctoral training at the National Institute for Medical Research (Mill Hill), Mount Sinai School of Medicine in New York, King’s College London and UCSF. His primary interest is to understand how deregulated cell signalling and gene expression results in congenital disease. His research has provided insights into the causes of developmental defects of the thymus, kidney, cardiovascular system and cerebellum. The current focus of his group is to uncover the function of chromatin remodelling factors in brain development and neurodevelopment disorders like autism.
PhD student (Anatomical Society)
Alex obtained his BSc in Neuroscience from King’s College London and joined the Basson Lab in September 2015 as a research technician. Alex’s interests are in how epigenetic modifications and consequent changes in gene expression can lead to the developmental changes observed in the etiology of neuropsychiatric disorders. He is particularly interested in how changes in cortical development can lead to the deficits in executive function seen in neuropsychiatric disorders such as those in the autistic spectrum.
PhD Student (King’s College London Graduate School)
Kim obtained her BSc Psychology and Cognitive Neuroscience at the University of Nottingham in 2012. She then completed her MSc Neuroscience at King’s College London in 2013. After spending two years in the lab as a
Research Technician, Kim started her PhD in October 2015. Kim is interested in how changes in genome organization can lead to abnormal brain development (and function) and how this impacts on behaviour, particularly as it relates to neurodevelopmental disorders.
PhD student (Crick Institute)
Talia obtained a BSc and MSc in Biochemistry from the University of Oxford. She worked for two years in the UCL Institute of Child Health on translational application of immunotherapy for neuroblastoma. She started her PhD in the Basson Lab in 2015, in a joint project between the Basson Lab and Gitta Stockinger’s Lab at the Crick Institute. She is working on the role of the transcription factor AhR in neural development and is also interested in the role of the immune system in development and disease in the vertebrate brain.
PhD Student (Simons Foundation)
Conor obtained a BSc in Genetics from University College Dublin (UCD) in 2015. Before finishing at UCD, Conor performed research into Peptide Nucleic Acid (PNA) based antisense agents at the University of Copenhagen. Now a PhD student in the Basson Lab, Conor is interested in the function of the chromatin remodelling factor CHD8 in neural development. The primary focus of his work is to identify novel autism associated signalling pathways and genes regulated by CHD8 in the developing mouse brain. To accomplish these objectives, he is using a host of next generation sequencing methodologies, including RNA-seq, ChIP-seq, and ATAC-seq.
PhD student (King’s Bioscience Institute)
Rob obtained his MSci in Natural Sciences from the University of Bath. During his undergraduate study he also completed a one year placement at the Barrow Neurological Institute where his main research focus was the structure and function of nicotinic acetylcholine receptors. Rob entered the 4-year KBI PhD programme for Biomedical and Translational Science at King’s College London in 2015. After completing his MRes year he joined the Basson Lab in 2016 to complete his PhD. Rob will utilise mouse models to investigate how the autism-associated gene CHD8 can contribute to ASD in human patients. Specifically his research will focus upon determining whether disrupting the expression of Chd8 alters the balance of excitatory and inhibitory activity within the cerebral cortex.
PhD Student (King’s Bioscience Institute)
Shaun completed his Biochemistry BSc at Imperial College London before entering into the 4-year KBI PhD Programme for Biomedical and Translational Science at King’s College London. After completing an MRes year, he has now joined the Basson Lab. He is using mouse models to investigate the role of the Chd8 gene in brain development, especially development of the cortex. Overall, Shaun is interested in understanding how mutations in this gene may affect brain development in ASD patients.
John Whittingham (Technician)
Phil Suetterlin (Post-doc)
Nemanja Saric (PhD) - Post-doc at Center for Neuroscience Research, Children's National Health System, Washington D.C. USA.
Sahrunizam Kasah (PhD) - Lecturer, Brunei Darussalam.
Kieran Jones (PhD) - Analyst, KPMG.
Hagen Schmidt (Technician) - Technician, Barts and the London Cancer Centre.
Abigail Jackson (PhD) - Assistant Professor, Danish Stem Cell Institute, Copenhagen.
Subreena Simrick (Post-doc) - British Heart Foundation.
Jennifer Gardiner (PhD) - Editor, News & Views, Nature.
Abhyuday Swami (MSc) - Research assistant, IoPPN, KCL
Rob Bonemei (MSc) - PhD student, Anglia Ruskin University, Cambridge
Roisin Sullivan (MSc) - Research assistant, UCL
Blanca Pijuan Sala (MSc) - PhD student, University of Cambridge
Genevieve Porter (MSc) - Science writer
Eugenia Sanz Smachetti (MSc) - PhD student, Argentina
Karun Sagar (MSc) - Dentist
Currently there are four main research areas in the laboratory:
Functions and mechanisms of CHD7 in cerebellar and frontal cortex development
Neurodevelopmental roles of CHD8 and associated chromatin remodelling factors
Unbiased approaches to identify distal regulatory elements in primary cerebellar granule neuron progenitors
Chromatin regulation in learning and memory
Suetterlin P, Hurley S, Mohan C, Riegman KLH, Pagani M, Caruso A, Ellegood J, Galbusera A, Crespo-Enriquez I, Michetti C, Yee Y, Ellingford R, Brock O, Delogu A, Francis-West P, Lerch JP, Scattoni ML, Gozzi A, Fernandes C, Basson MA (2018) Altered Neocortical Gene Expression, Brain Overgrowth and Functional Over-Connectivity in Chd8 Haploinsufficient Mice. Cereb Cortex 28:2192-2206 https://www.ncbi.nlm.nih.gov/pubmed/29668850.
Whittaker, D.E., Riegman, K.L.H., Kasah, S., Mohan, C., Yu, T., Pijuan Sala, B., Hebaishi, H., Caruos, A., Marques, A.C., Michetti, C., Sanz Smachetti, M.E., Shah, A., Sabbioni, M., Kulhanci, O., Tee, W.W., Reinberg, D., Scattoni, M.L., Volk, H., McGonnell, I., Wardle, F., Fernandes, C. & Basson, M.A. (2017) The chromatin remodeling factor CHD7 controls cerebellar development by regulating reelin expression. J. Clin. Invest. Mar 1;127(3):874-887. https://www.jci.org/articles/view/83408
Basson, M.A. & van Ravenswaaij-Arts, C.M. (2015) Functional insights into chromatin remodelling from studies on CHARGE syndrome. Trends in Genetics 10:600-611. https://doi.org/10.1016/j.tig.2015.05.009
Yu, T., Meiners, L.C., Danielsen, K., Wong, T.Y., Bowler, T., Reinberg, D., Scambler, P.J., van Ravenswaaij, C.M.A. & Basson, M.A. (2013) Deregulated FGF and homeotic gene expression underlies cerebellar vermis hypoplasia in CHARGE syndrome. eLife 2:e01305. https://doi.org/10.7554/eLife.01305
Chakkalakal, J., Jones, K., Basson, M.A. & Brack, A.S. (2012) The aged niche disrupts muscle stem cell quiescence. Nature 490:355-360. F1000 recommended. https://doi.org/10.1038/nature11438
Basson, M.A., Echevarria, D., Peterson Ahn, C, Sudarov, A., Joyner, A.L., Mason, I.J., Martinez, S. & Martin, G.R. (2008) Specific regions within the embryonic midbrain and cerebellum require different levels of FGF signaling during development. Development 135: 889-898. https://doi.org/10.1242/dev.011569