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Blizard Institute - Faculty of Medicine and Dentistry

Centre for Genomics and Child Health

The Centre for Genomics and Child Health brings together clinical and non-clinical scientists researching genomics in order to address the biology of health and human disease. This research has strong translational links to many clinical diseases, particularly those prevalent in childhood.

In addition to contributing to basic and translational research, the Centre has an important role in undergraduate and post graduate training and a strong interface with Barts Health. Clinical specialties include paediatrics, diabetes, gastroenterology, haematology and pathology.

For more information on Centre staff please go to the Contact & Staff tab – where you can visit individual staff pages as well as see lists of all Centre staff and honoraries.

The current research areas/groupings are:

i. Bone marrow failure and related disorders

The principal research interest of Professor Inderjeet Dokal and Professor Tom Vulliamy is bone marrow failure (BMF) focusing on the genetics of the inherited BMF syndromes, particularly dyskeratosis congenita (DC). Their research has highlighted the important role of telomeres in humans and the consequences of telomere dysfunction including dysregulated human development, premature ageing, increased risk of BMF and cancer. Current research is focused on elucidating the biology of the many uncharacterized cases of DC, BMF, familial myelodysplasia/leukaemia  (with Professors Jude Fitzgibbon and Jamie Cavenagh) as well as studies aimed at correction of the cell defect with the long term aim of developing new therapies for this group of patients.

ii. Brain tumours and neural stem cells

Professors Silvia Marino and Denise Sheer have developed a systematic strategy to identify critical genetic, epigenetic and gene expression features in brain tumours. Key discoveries include RAF fusions in pilocytic astrocytomas, microhomology at the RAF fusion breakpoints, MYB abnormalities in certain grade II astrocytomas (Sheer) and the identification and elucidation of the role of PcG group genes in medulloblastoma and high grade glial tumours (Marino). Ongoing studies include exome sequencing, DNA methylation and histone mark profiling with a view of understanding the neural stem cell as cell of origin of brain tumours and identifying novel targets for treatment via studying the basic biology of brain tumours.

iii. Children’s environmental health and respiratory disease

Professor Jonathan Grigg’s environmental research is focused on our local population. The “Exhale” study is measuring changes in lung function and biomarkers of exposure to air pollution in primary school children over a 5 year period–coinciding with the introduction of the London low emission zone. Laboratory studies are assessing the mechanisms underlying the increased vulnerability to pneumococcal pneumonia in children exposed to particulate air pollution. In our NHS patients research is focused on treatment of preschool wheeze, difficult asthma and the prevalence of obstructive breathing in patients with sickle cell disease (Dr Paul Telfer).

iv. Colorectal cancer

The major interest of Professor Andrew Silver and Mr Mohamed Thaha is colorectal cancer. This includes the identification of susceptibility genetic variants and modifiers of colorectal cancer (CRC) severity, and use of biomarkers of risk and outcome to facilitate stratified management in the clinic. Current studies are focussed on early onset CRC and the potential mechanistic links between type 2 diabetes and the risk of developing CRC. The genomics approach is also being applied to other types of gastro-intestinal cancers including oesophageal cancer with Professor David Kelsell. In collaboration with Dr James Lindsay the colorectal team have a strong programme of research in inflammatory bowel disease (IBD). This includes the identification of tissue and serum-based biomarkers for early detection of lesions in ulcerative colitis and fibrosis in Crohn’s disease. The group is also investigating the use of specific Histone deacetylase inhibitors for use in IBD control.

v. Developmental alterations in Down syndrome

Identification of molecular pathways altered by trisomy 21, leading to new insights into biology of Down syndrome (DS) is the long term research theme of Professor Dean Nizetic and Dr Jurgen Groet. This team identified the deregulation of embryonic stem cell fate and a new concept explaining how this de-regulation could be responsible for the increased leukaemia risk in DS children .This team generated the first induced-pluripotency-stem-cells (iPSC) within the Blizard Institute, establishing a unique isogenic DS iPSC model.

vi. Diabetes and obesity

Professor Graham Hitman’s and Dr Elena Bochukova principal research is on genomics (genetic and epigenetic) of diabetes and obesity. They are part of the wider Barts diabetes and obesity research group. The Bochukova group’s main work is the identification of variants linked to human obesity and related measures and their functional relevance to metabolic phenotypes; this work interfaces with Hitman, Finer and van Heel. Prof Hitman together with Sarah Finer (Primary Care and Public Health) research interest is directed to people from South Asia focussing on genomics and prevention strategies in high risk populations. For example one current program includes genomic and lifestyle predictors of foetal outcome relevant to diabetes and obesity in South Asians living in Europe or their home countries. This work also has a complementary interface with other investigators in the Centre (Professors Vardhman Rakyan and David van Heel) and that of Primary Care and Public Health (Professors Khan and Thangaratinam). 

vii. Epigenetics

The overall goals of the groups led by Professor Vardhman Rakyan, Doctors Miguel Branco, Ana O'Loghlen and Yung-Yao Lin, are to understand the molecular basis of the non-genetically determined component of mammalian phenotypes and diseases. Within this context the Rakyan group has a particular interest in ‘epialleles'–loci at which the epigenetic state varies as a result of stochastic, genetic and/or environmental influences. Several complementary lines of investigation are pursued to integrate molecular genomics, computational biology, mouse models, and human cohorts to understand the role of epialleles in complex phenotypes and diseases, transgenerational epigenetic inheritance, and environmental epigenomics.

The Branco group is investigating DNA methylation as well as its enzymatic oxidation derivatives (e.g. hydroxymethylation) with a particular interest in the targeting of retrotransposable elements by epigenetic modifiers and how this impacts on the host’s genome. 

The O’Loghlen group is investigating the role of the epigenetic complex PRC1 (Polycomb Repressive Complex 1) in repressing important tumour suppressors such as the INK4a/ARF locus. There is also interest in the function of PRC1 components, in particular the polycomb protein CBX7, in maintaining stem cell pluripotency and inducing cellular differentiation.

The Madapura lab is investigating the role of chromatin proteins and histone modifications in the regulation of gene expression. His lab uses state-of-the-art methodologies to identify regulatory elements (e.g. enhancers), how enhancers function in normal development and how noncoding mutations contribute to disease. 

The Villar lab is investigating the molecular mechanisms underlying transcriptional dynamics in mammals, and how their alterations can lead to disease states in humans. To address these questions, our work takes an integrative approach by combining functional genomics, bioinformatics and genetic perturbations across various models of the mammalian myocardium.

The Cerase Lab is currently working in X Chromosome inactivation (XCI) and XCI reversal using cell and animal models. The lab is also interested in X-linked neurodevelopmental disorders such as Rett and CDKL5 syndromes. The lab long-term plan is to study the epigenetic basis of brain development in health and disease with a particular focus on the role of lncRNAs and chromatin architecture.

viii. Human autoimmune diseases

The principal research interest of Professor David van Heel is human autoimmune diseases (Coeliac disease, type 1 diabetes and Crohn's disease), and the functional consequences of genetic variants on human biology. Significant discoveries have included the identification of 40 new risk variants for Coeliac disease, understanding the overlap between autoimmune diseases, and probing the role of rare variants. Professors David Van Heel and Richard Trembath have been recently awarded a Wellcome Trust Strategic Award to sequence East London populations to identify volunteers carrying homozygous rare loss of function variants (“human knockouts”) and recall them for deep phenotyping, a project that will play a key role in Queen Mary’s proposed new Life Sciences Institute. Professor David van Heel directs the Barts Genome Center; this ensures a comprehensive genomics platform for all investigators in the Centre and Institute wide.

ix. Neonatal medicine

The major emphasis of neonatal research has been the study of determinants of adverse outcomes following extremely preterm birth. This has involved long term collaborations between Professor Kate Costeloe and other institutions: the EPICure studies with Professor Marlow and studies of lung function with Professors Stocks and Dezateux. Other areas include the role of probiotics (Professor Kate Costeloe, Drs Shahid Hussain and Paul Fleming) in prevention of complications of prematurity in collaboration with the Dept of Microbiology in Barts Health, the use of Doppler ultrasound to study the neonatal circulation, particularly in relation to necrotizing enterocolitis (Dr Steve Kempley),  mechanisms of placental transfer of nutrients, retinopathy of prematurity (Drs Shahid Husain, Ajay Sinha) and hypoxic ischaemic encephalopathy (Dr Divyen Shah).

x. Neuromuscular disorders

Professor Marino’s group is interested in the biology of the adult skeletal muscle stem cells and progenitor cells, on the pathways and genes involved in control of their maintenance, proliferation and differentiation, in particular the Polycomb group genes (PcG). We are particularly interested in assessing how fine tuning of the expression of these genes can be exploited to enhance the regenerative function of the skeletal muscle in chronic neuromuscular disorders. Dr Yung-Yao Lin's group is investigating the molecular and cellular mechanisms underlying allelic variants of muscular dystrophies, focusing on the key components of the dystrophin-associated glycoprotein complex (DGC) and genetic modifiers of the DGC. Current research strategies have employed cellular reprogramming and genome editing technologies with the long-term aim of developing new therapeutic interventions. Prof Marino and Dr Lin collaborate on a project aiming at applying PcG gene modulation to Duchenne Muscular Dystrophy.

xi. Paediatric infection and immunology

Dr Andrew Prendergast’s group has a focus on the interaction between infection, immunity and malnutrition, particularly in the context of HIV infection. Specifically, his group is investigating the role of microbial translocation, a pathological process that underlies two conditions of global public health importance: childhood malnutrition and HIV infection. Laboratory investigations of the causal pathway linking poor sanitation/hygiene and impaired growth in infancy and the link between the gut microbiota and growth are being explored.

Active Clinical Trials [PDF 315KB]


i. MBBS course. The Centre is responsible for the design and delivery of the Child Health component of the Human Development Module. This is delivered in years 1, 2 and 4. The Child Health Module lead is Dr Benita Morrissey.

ii. The Centre is also involved in other parts of the MBBS course through the delivery of PBLs, OSCEs and lectures.

iii. Dr Jurgen Groet and Prof Jo Martin are responsible for organising the Experimental Pathology BSc (15—20 students /year).

iv. The Centre contributes to other BSc courses delivered by the Blizard Institute.


i. Dr Paul Allen is SMD Deputy Dean for Postgraduate Reserach for the Blizard Institute (overseeing progress of all PhDs and MDs) and member of committees for PGR students at School and College level.

ii. There are opportunities for PhD and MD research projects within all research areas/groups in the Centre.

iii. The Centre contributes to other postgraduate (MSc) courses delivered by the Blizard Institute. Professor Denise Sheer is module (Neuro-Oncology) lead for MSc in Neuroscience. Dr Jurgen Groet is module (induced pluripotent stem cells and genome engineering) lead for MSc in Regenerative Medicine.

iv. Coordination (Lead, Prof Silvia Marino) of the NIHR Academic Clinical Fellow (ACF) and Clinical Lecturer (CL) programme for QMUL/SMD.

Centre Lead: Professor Inderjeet Dokal,

Centre Manager: Sabrina Skeete, 020 7882 2619

Centre Administrators:           

Shirley Dankyi-Larbi, 020 7882 2615

Julia Moreta Diaz, 020 7882 2618


Centre Staff

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