Staff Profile

Academic background: PhD in Medical Genetics, Newcastle University

Areas of expertise:

Cell- and molecular biology

Gene therapy

Haematology and Immunology

Cancer research

Muscular dystrophy

Clonal haematopoiesis of indeterminate potential (CHIP) is the presence of clonal molecular genetic or cytogenetic changes in blood or bone marrow cells in the absence of signs of haematological neoplasia and absence of cytopenia. The incidence of a CHIP increases with age. While for individuals under 40 years of age, CHIP was detected only in rare cases, clonal haematopoiesis was detected from the age of 70 years in about 10% and from 80 years even about 30%. Patients with CHIP show an increased risk of the development of haematological neoplasia. However, the risk of other diseases, such as cardiovascular diseases or more serious inflammatory diseases is also increased in the presence of CHIP. In my research, I combine single cell genomics to perform simultaneous mutation profiling and transcriptomics, focusing on somatic mutations in human monocytes to understand the effect of clonal haematopoietic mutations on monocyte biology, relevant to a range of cardiovascular diseases and inflammation.

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Google scholar: Click here.

• Singh P, Heer M, Resteu A, Mikulasova A, Reza M, Largeaud L, Dufrechou S, Prade N, Dickinson RE, Bustamante J, Neven B, Bigley V, Delabesse E, Rico D, Pasquet M, Collin M. GATA2 deficiency phenotype associated with tandem duplication of GATA2 and overexpression of GATA2-AS1. Blood Advances 2021, 5(24), 5631-5635.
• Grinev VV, Barneh F, Ilyushonak IM, Nakjang S, Smink J, van Oort A, Clough R, Seyani M, McNeill H, Reza M, Martinez-Soria N, Assi SA, Ramanouskaya TV, Bonifer C, Heidenreich O. RUNX1/RUNX1T1 mediates alternative splicing and reorganises the transcriptional landscape in leukemia. Nature Communications 2021, 12(1), 520.
• Martinez-Soria N, McKenzie L, Draper J, Ptasinska A, Issa H, Potluri S, Blair HJ, Pickin A, Isa A, Chin PS, Tirtakusuma R, Coleman D, Nakjang S, Assi S, Forster V, Reza M, Law E, Berry P, Mueller D, Elder A, Bomken SN, Pal D, Allan JM, Veal GJ, Cockerill PN, Wichmann C, Vormoor J, Lacaud G, Bonifer C, Heidenreich O. The Oncogenic Transcription Factor RUNX1/ETO Corrupts Cell Cycle Regulation to Drive Leukemic Transformation. Cancer Cell 2018, 34(4), 626-642.e8.
• Lourbakos A, Yau N, De Bruijn P, Hiller M, Kozaczynska K, Jean-Baptiste R, Reza M, Wolterbeek R, Koeks Z, Ayoglu B, De Klerk D, Campion G, Zaharieva I, Nadarajah VD, Nilsson P, Al-Khalili Szigyarto C, Muntoni F, Lochmuller H, Verschuuren JJ, Goemans N, Tulinius M, Niks EH, De Kimpe S, Aartsma-Rus A, T'Hoen PAC, Spitali P. Evaluation of serum MMP-9 as predictive biomarker for antisense therapy in Duchenne. Scientific Reports 2017, 7, 17888.
• Reza M, Cox D, Phillips L, Johnson D, Manoharan V, Grieves M, Davis B, Roos A, Morgan J, Hanna MG, Muntoni F, Lochmuller H. MRC Centre Neuromuscular Biobank (Newcastle and London): Supporting and facilitating rare and neuromuscular disease research worldwide. Neuromuscular Disorders 2017, 27(11), 1054-1064.
• Meng JH, Counsell JR, Reza M, Laval SH, Danos O, Thrasher A, Lochmuller H, Muntoni F, Morgan JE. Autologous skeletal muscle derived cells expressing a novel functional dystrophin provide a potential therapy for Duchenne Muscular Dystrophy. Scientific Reports 2016, 6, 19750.
• Roos A, Cox D, Reza M, Guglieri M, Straub V, Lochmuller H. MRC biobank Newcastle - A five-year review of the John Walton Muscular Dystrophy Research Centre experience. In: 21st International Congress of the World Muscle Society. 2016, Granada, Spain: Elsevier.
• Reza M, Laval SH, Roos A, Carr S, Lochmuller H. Optimization of Internally Deleted Dystrophin Constructs. Human Gene Therapy Methods 2016, 27(5), 174-186.
• Mora M, Angelini C, Bignami F, Bodin AM, Crimi M, Di Donato JH, Felice A, Jaeger C, KarCagi V, LeCam Y, Lynn S, Meznaric M, Moggio M, Monaco L, Politano L, de la Paz MP, Saker S, Schneiderat P, Ensini M, Garavaglia B, Gurwitz D, Johnson D, Muntoni F, Puymirat J, Reza M, Voit T, Baldo C, Bricarelli FD, Goldwurm S, Merla G, Pegoraro E, Renieri A, Zatloukal K, Filocamo M, Lochmuller H. The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases. European Journal of Human Genetics 2015, 23(9), 1116-1123.
• Boczonadi V, Muller JS, Pyle A, Munkley J, Dor T, Quartararo J, Ferrero I, Karcagi V, Giunta M, Polvikoski T, Birchall D, Princzinger A, Cinnamon Y, Lutzkendorf S, Piko H, Reza M, Florez L, Santibanez-Koref M, Griffin H, Schuelke M, Elpeleg O, Kalaydjieva L, Lochmuller H, Elliott DJ, Chinnery PF, Edvardson S, Horvath R. EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia. Nature Communications 2014, 5, 4287.
• Lourbakos A, Hiller M, Kozaczynska K, Baptiste RJ, Reza M, Niks E, Koeks Z, de Klerk D, Wolterbeek R, Campion G, Nadarajah VD, Szigyarto CA, Calissano M, Muntoni F, Lochmuller H, Verschuuren JJGM, Goemans N, Tulinius M, de Kimpe S, Aartsma-Rus A, 't Hoen PAC, Spitali P. MMP-9 serum levels increase over time in Duchenne muscular dystrophy patients and decrease upon treatment with drisapersen. In: ESGCT and NVGCT Collaborative Congress. 2014, The Hauge, The Netherlands: Mary Ann Liebert, Inc. Publishers.
• Almalki A, Alston CL, Parker A, Simonic I, Mehta SG, He LP, Reza M, Oliveira JMA, Lightowlers RN, McFarland R, Taylor RW, Chrzanowska-Lightowlers ZMA. Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency. Biochimica et Biophysica Acta (BBA) Molecular Basis of Disease 2014, 1842(1), 56-64.
• Spendiff S, Reza M, Murphy JL, Gorman G, Blakely EL, Taylor RW, Horvath R, Campbell G, Newman J, Lochmüller H, Turnbull DM. Mitochondrial DNA deletions in muscle satellite cells: implications for therapies. Human Molecular Genetics 2013, 22(23), 4739-4747.
• Reza M, Laval SH, Counsell J, Muntoni F, Morgan J, Lochmuller H. Optimised dystrophin mini-constructs for gene delivery. In: 18th International Congress of the World Muscle Society. 2013, California, USA: Elsevier.
• Reza M, Johnson D, Cox D, Laval S, Chaouch A, Barresi R, Morgan J, Bushby K, Straub V, Muntoni F, Lochmuller H. MRC NMD Centre Biobank: An overview. In: United Kingdom Neuromuscular Translational Research Conference. 2012, Newcastle upon Tyne, UK: Elsevier Ltd.
• Spendiff S, Horvath R, Lochmüller H, Reza M, Murphy JL, Taylor RW, Turnbull DM. Mitochondrial DNA mutations in satellite cells. In: UK Neuromuscular Translational Research Conference. 2011, London: Neuromuscular Disorders: Pergamon.
• Dick E, Matsa E, Bispham J, Reza M, Guglieri M, Staniforth A, Watson S, Kumari R, Lochmuller H, Young L, Darling D, Denning C. Two new protocols to enhance the production and isolation of human induced pluripotent stem cell lines. Stem Cell Research 2011, 6(2), 158-167.
• Spendiff S, Horvath R, Murphy JL, Taylor RW, Reza M, Lochmuller H, Turnbull DM. Finding the missing gap - mitochondrial DNA deletions in muscle stem cells. In: United Kingdom Neuromuscular Translational Research Conference 2010. 2010, Oxford: Neuromuscular Disorders, Elsevier.
• Johnson D, Reza M, Morgan JE, Barresi R, Lochmuller H, Muntoni F. MRC NMD Biobank service: an overview. In: United Kingdom Neuromuscular Translational Research Conference. 2010, Oxford: Neuromuscular Disorders, Elsevier.
• Charlton R, Henderson M, Richards J, Hicks D, Reza M, Straub V, Lochmuller H, Bushby K, Barresi R. Chain-specific antibody testing of collagen VI: An additional pre-screening strategy for the diagnosis of Bethlem myopathy. In: Neuromuscular Disorders: 14th International Congress of the World Muscle Society. 2009, Geneva, Switzerland: Elsevier Ltd.