Rate My Professor Hemanth Tummala

Dr. Hemanth Tummala serves as Senior Lecturer in Genetics and Molecular Biology in the Centre for Genomics and Child Health, Blizard Institute, Faculty of Medicine and Dentistry at Queen Mary University of London. He completed his BSc in Biotechnology at Bangalore University, India in 2003. Relocating to Scotland, he pursued a Master's by research leading to PhD studies at The Roslin Institute, Edinburgh from 2003 to 2008, supported by scholarship awards from The Harold Hyam Wingate Foundation and The Carnegie Trust for the Universities of Scotland. Following his PhD, Tummala worked as lead postdoc at the University of Edinburgh's Institute of Genetics and Molecular Medicine and the University of Dundee's Division of Neuroscience at Ninewells Hospital before joining the Blizard Institute. His research group investigates pathogenetic mechanisms underlying inherited bone marrow failure syndromes and their predisposition to leukaemias, employing next-generation sequencing, patient-derived pluripotent stem cells, biochemical assays, molecular techniques, and genome editing.

Tummala's work centers on discovering and characterizing novel genes and mechanisms contributing to bone marrow failure disorders, particularly those involving telomere maintenance, ribosome biogenesis, and transcription-associated DNA repair. Key findings include germline thymidylate synthase (TYMS) deficiency causing dyskeratosis congenita through disrupted nucleotide metabolism and abnormal telomere shortening, detailed in his senior corresponding author paper 'Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita' published in the American Journal of Human Genetics (2022). Other notable publications comprise invited reviews 'The biology and management of dyskeratosis congenita and related disorders of telomeres' in Expert Review of Hematology (2022) and 'Inherited bone marrow failure in the pediatric patient' in Blood (2022), alongside studies on ERCC6L2 variants, PSIP1/LEDGF in genome integrity, and polygenic modifiers in telomere biology disorders (2024-2025). These contributions advance diagnosis, management, and targeted therapies like PAPD5 inhibitors and thymidine supplementation for dyskeratosis congenita, illuminating stem cell homeostasis and cancer predisposition pathways.