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Title: Christian Babbs — Radcliffe Department of Medicine
Description: BSc (Hons) DPhil Christian Babbs - Senior Postdoctoral Researcher
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Texto: Christian Babbs — Radcliffe Department of Medicine Cookies on this website We use cookies to ensure that we give you the best experience on our website. If you click 'Continue' we'll assume that you are happy to receive all cookies and you won't see this message again. Click 'Find out more' for information on how to change your cookie settings. Continue Find out more Skip to main content Site Map Accessibility Cookies Contact us Log in Menu Home About us About us Our Divisions Our Clinical Facilities and MRC Units Working at RDM Athena SWAN News Seminars Locations and contact details Research People Study with us Work with us Current vacancies Novo Nordisk - Oxford Fellowships For Staff Contacts, travel and maps Personnel Finance, Grants and Funding Facilities, IT and Health and Safety Graduate Studies Career Development Athena SWAN Communications and public engagement Search People Christian Babbs Contact information Email christian.babbs@imm.ox.ac.uk Research groups Buckle Group: Nuclear Organisation and Erythropoiesis Christian Babbs BSc (Hons) DPhil Senior Postdoctoral Researcher Researching the genetic basis of anaemia, alpha-globin gene regulation and haemoglobin switching. My research focuses on the genetic causes of anaemia, regulation of the alpha globin locus and haemoglobin switching.   Genetic Causes of Anaemia Anaemia results from the failure of adequate production of red blood cells in the bone marrow or insufficient production of the oxygen carrying metalloprotein haemoglobin. This can be a distressing condition and I am a board member and supporter of the charity The Congenital Anaemia Network . Currently ~60% of patients with congenital anaemia remain without a genetic diagnosis and part of my research utilises next generation sequencing technologies to identify novel causative variants and broaden the diagnostic range for these disorders. As part of this work I have identified a novel gene, C15ORF41, underlying a type of anaemia termed Congenital Dyserythropoietic Anaemia type I (CDA-I) (Babbs et al., 2013).  Only one other gene is known to underlie CDA-I, CDAN1 encoding the protein Codanin-1. Both C15ORF41 and Codanin-1 are widely expressed and highly conserved yet when either is mutated phenotypic abnormalities are present only in red blood cells. We are building on evidence that Codanin-1 and C15ORF41 interact and play a role in a novel pathway affecting DNA replication or chromatin assembly. We are working to identify the other proteins involved in this pathway in normal erythropoiesis and how, when perturbed, it leads to the specific abnormalities seen in CDA-I. This work is funded in part by Action medical Research for Children and the Henry Smith Charity. Haemoglobin Switching: Anaemia can also arise as a result of insufficient production of haemoglobin, a tetrameric protein consisting of two alpha-like and two beta-like globin chains .  At least 340,000 individuals with severe inherited disorders of haemoglobin are born each year. Of these ~70,000 suffer from alpha- or beta-thalassaemia, which are the most common human monogenic disorders known with a carrier rate of >1% among all tropical and subtropical populations studied. The major treatment for severe alpha-thalassemia is symptomatic care and transfusion of red blood cells as clinically necessary. However, the use of regular blood transfusions can give rise to significant problems.  The only potentially curative therapies currently available for severe alpha-thalassemia are bone marrow transplantation and gene therapy, both of which have significant limitations for widespread use. Individuals with the most severe from of  alpha-thalassemia, termed Barts Hydrops Fetalis Syndrome (BHFS), most frequently die during mid-gestation. However, a small number of these patients survive gestation but suffer multiple complications and have life-long transfusion dependence (Songdej et al ., 2017). Both the alpha- and beta-globin loci harbour genes encoding globin chains that are specifically expressed only in the first trimester of gestation (termed embryonic globins) in addition to the genes encoding the adult globin chains that are expressed throughout adult life. The sequential activation and repression of the globin genes throughout development to maturity is termed haemoglobin switching. We are building on our finding that mutations in KLF1 (Viprakasit et al., 2014) derepress zeta-globin to shed light on the regulation of this gene and investigate whether it may be de-repressed in adulthood to ameliorate the symptoms of severe alpha-thalassemia.   Promotor/Enhancer Dynamics  It is known that regions of non-coding DNA at linearly remote locations from the genes they regulate (enhancers) can have a profound effect on gene regulation. It has been shown by chromatin conformation capture techniques that gene promoters and enhancers interact in three-dimensional space to boost transcription. However, one limitation of these techniques is that they are performed on whole cell populations.  I am developing a live-cell model in which chromatin at the alpha globin promoter and enhancer sequences is bound by fluorescently labelled proteins. This system will enable us to visualise promoter/enhancer dynamics throughout erythroid differentiation and correlate chromatin movements with gene transcription. Recent publications ATR-16 syndrome: mechanisms linking monosomy to phenotype. Journal article Babbs C. et al, (2020), J Med Genet Majeed syndrome: description of a novel mutation and therapeutic response to bisphosphonates and IL-1 blockade with anakinra. Journal article Roy NBA. et al, (2019), Rheumatology (Oxford) Modelling Calvarial Development in Mice Using Finite Element Method Conference paper Moazen M. et al, (2019), JOURNAL OF MORPHOLOGY, 280, S24 - S24 Germline selection shapes human mitochondrial DNA diversity. Journal article Wei W. et al, (2019), Science, 364 The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I. Journal article Roy NBA. and Babbs C., (2019), Br J Haematol, 185, 436 - 449 More publications ORCID 0000-0002- 1898-5878 © 2020 Radcliffe Department of Medicine Freedom of Information Privacy Policy Copyright Statement Accessibility Statement About us Our Divisions Investigative Medicine Division Nuffield Division of Clinical Laboratory Sciences Oxford Centre for Diabetes, Endocrinology and Metabolism Division of Cardiovascular Medicine MRC Weatherall Institute of Molecular Medicine MRC Weatherall Institute of Molecular Medicine Our Clinical Facilities and MRC Units Acute Vascular Imaging Centre Cardiovascular Clinical Research Facility Oxford Centre for Clinical Magnetic Resonance Research Working at RDM Equal career opportunities and flexible working Career development and training Athena SWAN News Seminars Locations and contact details Research Cardiovascular Science Haematology and Pathology Diabetes, Metabolism and Endocrinology Cancer Biology Immunology and Infection Stem Cells and Developmental Biology Geratology Experimental Therapeutics Ashrafian Group: Experimental Therapeutics and Clinical Pharmacology Mahmod group Tyler Group Lunter Group: Functional Genomics & Machine Learning Lunter Group People Moustafa Abdalla Ines Abdesselam Adib Abdullah Amanda Adler Satish Adwani Devika Agarwal Olorunsola Agbaje Doaa Ahmed Jila Ajeian Nadia Akawi Naveed Akbar Nasren Akhtar Ioannis Akoumianakis Merve Aksoz Marta Perez Alcantara Yara Alenazi Jack Allen Maryam Alsharqi Sneha Anand Amanda Anderson Agata Antepowicz Charalambos Antoniades Alex Antonopoulos Mahesh Appari Andrew Apps Janhavi Apte Rina Ariga Andrew Armitage Alyssa Armsby Linda Arnold Ritu Arya James Ashford Neil Ashley Nicole Ashman Houman Ashrafian Kate Attfield Christian Babbs Mohsin Badat Ileana Badi Jade Bailey Subita Balaram Abhirup Banerjee Alison Banham Adrian Banning Liliana Barbieri Mike Barnkob Amy Barrett Carole Bataille Matthew Baxter Asha Bayliss Robert Beagrie Daniel Beard John Bell John Bell Elena Benedetto Amanda Bennett Felicity Bennett Nicolas Bery Timothy Betts Ryan Beveridge Shoumo Bhattacharya William Biggs Malenka Bissell Edward Blair Henry Blest Nicholas Blockley Henry Boardman Andrea Borghetto Alessandra Borlotti Jacqueline Boultwood Yavor Bozhilov Adam Braithwaite Robert Brand Matt Brechin Serena Briant Linford Briant Anne Bridgeman Paul Brodersen James Brown Jill Brown Connor Broyles Marella de Bruijn Alastair Buchan Veronica Buckle Paul Buckley Daniel Bulte Martijn van de Bunt Mario Buono Holger Burchert Emma Burke-Smith Oliver Burns Matthew Burrage Shijie Cai David Cain Sarah Califano Ivan Candido-Ferreira Fang Cao Maria Carena Maria Carena Ricardo Carnicer Davide Carone Joana Carrelha Brigid Carter Barbara Casadei Carla Cascone Vincenzo Cerundolo Kuan Cha Hedia Chagraoui Jem Chalk Keith Channon Lise Chauveau Jane Cheeseman Yi-Ling Chen Jili Chen Qian Cheng Amy Chiu Robin Choudhury Constantinos Christodoulides Zoe Christodoulou Sandy Chu Surawee Chuaiphichai Aldo Ciau-Uitz Thomas Clague Sally-Ann Clark Kevin Clark Lynn Clee Liz Cloke Christopher Cole Ruth Coleman Huw Colin-York Michela Colombo Ismael da Conceicao Catriona Conway Daniel Cooke Kerrie Cope Anna Corby Thomas Cornfield Eduardo Calpena Corpas Yvonne Couch Mark Crabtree Fay Croft Heidi Crook Eloise Cross Nicholas Crump Andres Hueso Cuervo Melinda Czéh Liangti Dai Andrea van Dam Rinita Dam Matt Daniels Lorna Daniels Carol Davey James Davies Graham Davies Simon Davis James Dean Rebecca Dean Atanasiu Stefan Demian Niall Dempster Louise Dennis Timothy Dent Geoffrey Denwood Michael Desborough Veronica Alcolea Devesa Matthew Dickinson Marina Diotallevi Tomasz Dobrzycki Cameron Dockerill Michael Dodd Kathleen Dolan Hamid Dolatshad Robert Friedrich Donat Tao Dong Patricia Douglas Gillian Douglas Damien Downes Hal Drakesmith Roy Drissen Edward Drydale Yue Du Claire Duff Sam Dunkley Pamela Dyson James Early James Eaton Carol Eaton Laurienne Edgar Christian Eggeling Mehroz Ehsan Jane Ellis Hanif Esmail Lise Estcourt Rachel Etherington Mark Evans Tracey Evans Martyn Ezra Anne Farmer Martin Farrall Martin Fellermeyer Candida Fenton David Ferguson João Ferreira Fernandes


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243 www.rdm.ox.ac.uk/people/graham-davies
244 www.rdm.ox.ac.uk/people/simon-davis
245 www.rdm.ox.ac.uk/people/james-dean
246 www.rdm.ox.ac.uk/people/rebecca-dean
247 www.rdm.ox.ac.uk/people/atanasiu-stefan-demian
248 www.rdm.ox.ac.uk/people/niall-dempster
249 www.rdm.ox.ac.uk/people/louise-dennis
250 www.rdm.ox.ac.uk/people/timothy-dent
251 www.rdm.ox.ac.uk/people/geoffrey-denwood
252 www.rdm.ox.ac.uk/people/michael-desborough
253 www.rdm.ox.ac.uk/people/veronica-alcolea-devesa
254 www.rdm.ox.ac.uk/people/matthew-dickinson
255 www.rdm.ox.ac.uk/people/marina-diotallevi
256 www.rdm.ox.ac.uk/people/tomasz-dobrzycki
257 www.rdm.ox.ac.uk/people/cameron-dockerill
258 www.rdm.ox.ac.uk/people/michael-dodd
259 www.rdm.ox.ac.uk/people/kathleen-dolan
260 www.rdm.ox.ac.uk/people/hamid-dolatshad
261 www.rdm.ox.ac.uk/people/robert-friedrich-donat
262 www.rdm.ox.ac.uk/people/tao-dong
263 www.rdm.ox.ac.uk/people/patricia-douglas
264 www.rdm.ox.ac.uk/people/gillian-douglas
265 www.rdm.ox.ac.uk/people/damien-downes
266 www.rdm.ox.ac.uk/people/alexander-drakesmith
267 www.rdm.ox.ac.uk/people/roy-drissen
268 www.rdm.ox.ac.uk/people/edward-drydale
269 www.rdm.ox.ac.uk/people/yue-du
270 www.rdm.ox.ac.uk/people/claire-duff
271 www.rdm.ox.ac.uk/people/samuel-dunkley
272 www.rdm.ox.ac.uk/people/pamela-dyson
273 www.rdm.ox.ac.uk/people/james-early
274 www.rdm.ox.ac.uk/people/james-eaton
275 www.rdm.ox.ac.uk/people/carol-eaton
276 www.rdm.ox.ac.uk/people/laurienne-gardner
277 www.rdm.ox.ac.uk/people/christian-eggeling
278 www.rdm.ox.ac.uk/people/mehroz-ehsan
279 www.rdm.ox.ac.uk/people/jane-ellis
280 www.rdm.ox.ac.uk/people/hanif-esmail
281 www.rdm.ox.ac.uk/people/lise-estcourt
282 www.rdm.ox.ac.uk/people/rachel-etherington
283 www.rdm.ox.ac.uk/people/mark-evans
284 www.rdm.ox.ac.uk/people/tracey-evans
285 www.rdm.ox.ac.uk/people/martyn-ezra
286 www.rdm.ox.ac.uk/people/anne-farmer
287 www.rdm.ox.ac.uk/people/martin-farrall
288 www.rdm.ox.ac.uk/people/martin-fellermeyer
289 www.rdm.ox.ac.uk/people/candida-fenton
290 www.rdm.ox.ac.uk/people/david-ferguson
291 www.rdm.ox.ac.uk/people/joao-ferreira-fernandes



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