A brief summary of my academic career

I have a BSc in Biochemistry and an MSc in Molecular Medicine. My Master’s thesis focused on the effects of polymorphisms in the promoter region of a gene linked to viral replication in patients infected with HIV. I also worked at the Wellcome Trust Sanger Institute in a large team identifying SNPs associated with a number of different diseases, as well as those with an effect on drug treatments.

For my PhD I am combining molecular genetic techniques and computational biology to investigate gene-regulatory networks involved in the development of pancreatic neuroendocrine tumours. At the bench I have performed genome-wide ChIP-seq, ATAC-seq and RNA-seq experiments. I am developing computational methods to integrate these data sets using R and bash.

I wish to pursue a research career answering biological questions using computational approaches.

“The joy of discovery is certainly the liveliest that the mind of man can ever feel”

- Claude Bernard -

Research interests

Regulatory genomics: ever since the first drafts of the human genome sequence were published I've been fascinated by genomics. I was part of a human genetics research group at the Sanger Institute searching for variation in the human genome (both benign and disease causing). I followed the ENCODE project with great intrigue as the consortium strove to functionally characterise the non-protein-coding genome. Now I am excited to be leading my own project aiming to profile gene regulatory elements and gene expression involved in cellular identity and cell proliferation.

Neurogenomics: the human brain is truly a wonder to behold. A supercomputer contained within 1.5 kilos of wrinkly jelly. Aside from our genome, one could argue it's what makes humans human. For me the development of the brain is extraordinary. As many as 2 million new synapses are formed every second in the infant brain. As a child develops some synapses strengthen and others weaken, facilitating adaptation to the local environment, including language skills and finally 50% (of over 100 trillion synapses) remain. I was so intrigued by this process that I decided to write a review article about it during my master's. I want to understand more about the brain during development, and also the aberrant mechanisms that cause neurophsyciatric and neurodegenerative disease.

At postdoc level my plan is to try to combine these two areas of interest and to follow lines of research that aim to elucidate the genomic and epigenomic factors involved in brain development and disease.

CV & Publications

Richard Norris

Address: Carrer de Ribas i Perdigo, 46, apartment 3. 08911, Badalona, Barcelona, Spain

E-mail: rnorris1260@gmail.com Mobile: +34 660366421 Nationality: British

Website: https://maybneuron2something.wixsite.com/helloworld

Education

04/2017 - present: Lab: IGTP (until 07/2020)& University Pompeu Fabra; Doctoral Programme: University of Barcelona

Endocrine Regulatory Genomics lab.

PhD in Biomedicine & Bioinformatics

Gene regulatory networks in pancreatic islets and insulinoma
Combining molecular genetic techniques and computational biology to investigate gene-regulatory networks involved in the development of pancreatic neuroendocrine tumours.

09/2012 – 09/2014: Brunel University London

MSc Molecular Medicine with merit

Thesis title – ‘Investigation of promoter polymorphisms and expression levels of AIP1 in a cohort of patients infected with Human Immunodeficiency Virus’. Supervised by Dr Jamal Nasir, St George’s University of London. Awarded distinction.
Sponsorship awarded – Primerdesign Ltd silver studentship – included training in real-time PCR setup and analysis.

09/2001 – 06/2004: University of Manchester Institute of Science and Technology (UMIST)

Bachelor of Sciences (honours) Biochemistry with Medical Biochemistry – 2:2

Honours project title – ‘Overexpression of a functional Kir2.1 channel in the yeast Pichia pastoris’. Supervised by Dr Steve Prince. Achieved 1st class mark

Publications

The impact of proinflammatory cytokines on the β-cell regulatory landscape provides insights into the genetics of type 1 diabetes. Ramos-Rodríguez, M., Raurell-Vila, H., Colli, M. L., Alvelos, M. I., Subirana-Granés, M., Juan-Mateu, J., Norris, R., Turatsinze, J. V., Nakayasu, E. S., Webb-Robertson, B. M., Inshaw, J., Marchetti, P., Piemonti, L., Esteller, M., Todd, J. A., Metz, T. O., Eizirik, D. L., & Pasquali, L. (2019). Nature genetics, 51(11), 1588–1595. https://doi.org/10.1038/s41588-019-0524-6

Conference posters:

Gene-regulatory networks in pancreatic islets and insulinoma. Norris R, Sordi V, Raurell-Vila H, Pellegrini S, Ramos-Rodríguez M, Falconi M, Piemonti L, Subirana M, Pasquali L. 3rd Joint EASD Islet Study Group and Beta-Cell Workshop, St Catherine's College, University of Oxford, Oxford, UK, April 1st - 3rd, 2019.

Two new cases of double heterozygosity for BRCA1 and BRCA2 gene mutations detected during routine diagnostic screening at the SW Thames Regional Genetics Laboratory. A. Perez-Caballero, L. Kiely, E. Fidanis, L. Collins, H. Gosrani, R. Norris, S. Cottrell, A. Haworth, J. Short, R. Taylor. The European Human Genetics Conference 2015

Evaluation of point mutations and large deletions in the SLC12A3 gene in a large cohort of Gitelman syndrome patients. Sarah Waller, Laura Daboo, Richard Norris, Becky Treacy, Fiona E Karet

British Society for Human Genetics Conference, University of York, UK, Sept 15th-17th, 2008

Conference paper:

A search for genetic factors underlying bleeding complication in Warfarin treatment. Leslie Chen, Jonatan Lindh, Mark Earthrowl, Niclas Eriksson, Richard Norris, Alison Coffey, Mia Wadelius, Ralph McGinnis, Anders Rane, Panos Deloukas. Cold Spring Harbor Laboratory/Wellcome Trust Conference on Pharmacogenomics, Hinxton, UK, Oct 17th -20th, 2007

Computer programming

I use mainly R and Bash in my current research, but I’ve also written scripts in Python
I develop and use:
- pipelines for analysis of ChIP-seq, RNA-seq, ATAC-seq data
- scripts for differential and integrative analyses of NGS data sets

Languages:

English (native speaker), conversational German and basic Spanish

Research experience:

05/2005 – 12/2007: The Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK

Research Assistant in Human Genetics (PI – Dr Alison Coffey)

I was part of the Exon Resequencing team performing targeted medical sequencing to investigate sequence variation within the human genome. The role of the team was to identify variants in control populations and disease cohorts using high-throughput PCR and sequencing techniques.

Information about the ‘Human exon sequencing project’ and the results produced can be found via the following link http://www.sanger.ac.uk/resources/downloads/human/exoseq.html

Clinical experience:

11/2009 – 05/2016: SW Thames Regional Genetics Service,

St George’s University Hospitals NHS Foundation Trust, London, UK

AHCS Registered Genetic Technologist - Molecular Genetics

Analysed patient DNA samples for disease-causing mutations using a wide range of molecular genetic techniques.

Designed and developed diagnostic tests, translating basic research findings into clinical tools for diagnosis and prediction of genetic disorders.

Accepted to the Academy for Healthcare Science (AHCS) register for Genetic Technologists - see www.ahcs.ac.uk

01/2008 – 11/2009: East Anglian Medical Genetics Service,

Cambridge University Hospitals NHS Foundation Trust, Addenbrooke’s Hospital, Cambridge, UK

Genetic Technologist - Molecular Genetics

PhD thesis summary

My doctoral thesis is focused on profiling gene-regulatory elements, chromatin accessibility and gene expression genome-wide in order to decipher the gene-regulatory mechanisms involved in the development of insulinoma, a pancreatic neuroendocrine tumour. I'm a self-taught programmer, currently working mostly in R and bash, but I’ve also written scripts in Python. I have developed pipelines and scripts to process and analyse high-throughput NGS data, for example to identify deferentially active regulatory elements and deferentially expressed genes. I’ve also co-authored a paper on the impact of pro-inflammatory cytokines on cis-regulatory elements in type 1 diabetes that was recently published in Nature Genetics.

MSc thesis summary:

HIV/AIDS is a global epidemic and one of the leading causes of mortality. There is no cure or vaccine, but there exists a group of infected people (estimated at 1:300) who are able to control their HIV without medication. These elite controllers are able to suppress viral replication and maintain high CD4+ T helper cell levels without treatment, and host genetics is believed to play a significant role in this. In addition there are a range of phenotypes seen in HIV infected patients, characterised by varying speed of progression from initial infection to AIDS. AIP1 is known to play a role in HIV budding and directly interacts with the HIV Gag protein (Martin-Serrano & Neil, 2011). Previous work identified five non-synonymous polymorphisms and three novel intronic polymorphisms in AIP1.

I sequenced the regions comprising the two best characterised promoter sequences in AIP1 and identified five polymorphisms (including a 15bp insertion/deletion) in a cohort of 95 HIV infected individuals across a range of progression phenotypes. One SNP showed statistically significant association with HIV controller phenotypes. Haplotype analysis showed a combination of this SNP and the insertion/deletion was also associated with the controller phenotype. I used online databases including TRANSFAC to search for transcription factor binding sites which may be disrupted by each polymorphism. The patients were also genotyped for the well-established CCR5 Δ32 variant in order to exclude its possible contribution to the progression phenotype of the patients. Finally I investigated the link between AIP1 expression levels and viral load and observed an increase in AIP1 expression in patients with low viral load compared with high viral load. This result was the opposite of what I expected, leading me to hypothesise that higher AIP1 expression leads to the protein irreversibly binding to HIV or sequestering the virus, preventing its release. Overall further evidence was found of the link between AIP1 and the variation in HIV progression phenotypes. Variants were identified which could be considered as HIV restriction factors, and if the findings were to be confirmed they could contribute to the list of variants used to assign such phenotypes to HIV patients and be used as novel therapeutic targets.