Ataxia Telangiectasia doesn’t discriminate and neither do our discoveries. They benefit people everywhere, regardless of where they were made. By bringing together Universities, Researchers, Clinicians, Patient Groups and Charities, the A-T Global Alliance have established hubs of research in cities all around the globe. Our research network allows the smartest minds to work together, to ensure discoveries are turned into benefits for people with A-T everywhere, sooner.

The table below is categorised using the UK Clinical Research Collaboration Health Research Classification System to assist with the classification and analysis of all types of health research. The categories used to label each study/publication are:

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Research Project	Completed	Institute	Principal Investigator	Country	Cat
Optimizing lung imaging in people with A-T applying improved MRI techniques	In Progress	Radboud University Medical Centre	Dr Peter Merkus		4
IMAGIN-AT – advanced lung imaging and function testing in A-T	In Progress	University of Nottingham	Dr Jayesh Bhatt and Dr Andrew Prayle		4
Further development of CRISPR/Cas Genome Editing as a treatment for A-T	In Progress	Royal Holloway, University of London	Dr Yanez-Munoz		5
ASO Project	In Progress	A-TCP	Dr Timothy Yu		6
The ATeam: Producing healthcare guidance for children with A-T (A-T) including the exploration and design of a home-based exercise package	In Progress	University of Plymouth	Lisa Bunn		7
Does Loss of ATM Suppression of the SMG1 Kinase Contribute to the A-T Phenotype?	In Progress	Duke University, North Carolina	Mike Kastan		2
Investigating Liver Dysfunction in A-T Patient Hepatocytes	In Progress	Australian Institute of Bioengineering and Nonotechnology, University of Queensland	Sarah Withey		2
Investigation of the Role of Oxidative Stress in Pulmonary Disease in A-T	In Progress	Centre for Clinical Research, University of Queensland	Abrey Yeo		2
Mitochondrial dysfunction in A-T can be explained by defective Endoplasmic (ER) mitochondrial interaction: an approach to therapy for children with A-T	In Progress	Centre for Clinical Research, University of Queensland	Martin Lavin		2
Functional and metabolomic analysis of iPSC-derived Purkinje neurons from A-T patients	In Progress	IFOM, The FIRC Institute of Molecular Oncology	Professor Marco Foiani		1 & 2
Modulation of RELB/p52-dependent NF-?B activities to improve neurodegenerative symptoms of A-T	In Progress	University of Cambridge	Dr Svetlana Koronenkova		2
New perspectives in E-Care: Exploring virtual in-home multiple interventions for Ataxia Telangiectasia (Acronym: NEW_EXIT)	In Progress	Department of Educational Science, University of Catania, Catania	Prof. Agata Polizzi		7
Fluoxetine reveres cognitive defects in a mouse model of AT: a preclinical study to elucidate the precise mechanism of action	In Progress	University of Milan	Flavia Antonucci		6
Ataxia Telangiectasia: a new murine model to discover the connection between Purkinje cell calcium homeostasis disruption and disease pathogenesis	In Progress	Department of Neuroscience/ University of Turin	Eriola Hoxha		2
Brain-penetrating ATM gene therapy	In Progress	Nottingham University Hospital	Dr James Dixon		1 & 6
Study of natural killer cells in A-T pathogenesis and their therapeutic implications	In Progress	Bambino Gesù Children's Hospital, Italy	Dr Margherita Doria and Dr. Maria Giovanna Desimio		2
Trial REadiness in Ataxia Telangiectasia (TREAT-AT)	In Progress	University of Cambridge	Dr Rita Horvath and Dr Anke Hensiek		4
Data-driven drug discovery for A-T – interrogation of dysfunctional pathways at single-cell resolution in cerebellar organoids	In Progress	QIMR Berghofer Medical Research Institute, Queensland, Australia	Dr Sam Nayler		1
Understanding and correcting glucose metabolism defects in A-T	In Progress	The FIRC Institute of Molecular Oncology, Milan, Italy	Associate Professor Vincenzo Costanzo		5
Regulation of SIRT1 and SIRT7 in human ATM KD and KO cell lines: exploring new targets for therapy	In Progress	IBCN-CNR, Monterotondo, RM	Sabrina Putti		3
Toward a personalized gene therapy in A-T: the role of 4-53 and synthetic ATM variants	In Progress	University of Urbino	Professor Michele Menotta		3
Preclinical Assessment of Intrathecal rAAV9-Mediated miATM Therapy for Ataxia Telangiectasia in Mouse Models.	In Progress	Oslo University Hospital, Norway	Professor Hilde L. Nilsen		1
Modelling Ataxia Telangiectasia pathogenesis and therapeutics using human pluripotent stem cells and genetic engineering.	In Progress	Institute for Bioengineering of Catalonia	Dr Núria Montserrat		5
Assessing the efficiency of split-inteins mediated protein trans- splicing in correcting the gene defect in ataxia telangiectasia	In Progress	University of Naples “Federico II	Dr. Giuliana Giardino		5
Study on the possible neuro-steroidogenic origin of myelin defects in A-T	In Progress	University of Milan	Flavia Antonucci		2
Identifying existing drugs to repurpose for treating Ataxia-Telangiectasia	In Progress	The University of Birmingham	Dr Richard Tuxworth		3
Exploring Omaveloxolone efficacy in Ataxia-telangiectasia	In Progress	University College London (UCL)	Professor Paola Giunti		3
Functional impact of Nicotinamide Riboside on the immune system of patients with A-T	In Progress	Leiden University Medical Center	Dr Mirjam van der Burg		3
Biomarkers for Babies and Young Children with Ataxia Telangiectasia (BOBCAT)	In Progress	The University of Nottingham	Professor Rob Dineen		3
Development of a Gene Therapy approach to treat A-T	In Progress	University of North Carolina at Chapel Hill	Professor Sam Young		5
Identifying new therapies for blood cancers in patients with A-T	2020	University of Birmingham	Professor Malcolm Taylor		5
Longitudinal brain changes in childhood A-T	2020	University of Nottingham	Dr Rob Dineen		4
A zebrafish model of A-T	2020	Sheffield University	Dr Andrew Grierson		1
The use of patient stem cell-derived mini-brains to study A-T	2020	University of Oxford	Samuel Nayler		1
Unravelling the antibody defciency in A-T	2020	Erasmus University Medical Centre, Rotterdam	Associate Professor Mirjam Van der Burg		2
Development of non-genotoxic conditioning regimens for hematopoietic stem cell transplantation in A-T	2021	Clinica Universidad de Navarra	Felipe Prosper Cardoso, Borja Saez		5
Does irregular repair of DNA damage in Neurons and Lymphocytes cause cellular degenertion in A-T patients	2021	IMAGINE Instititute, Paris	Jean-Pierre De Villartay		2
Exploiting cellular immunotherapy for lymphoid malignancies in patients with A-T	2021	Sheba Medical Centre	Elad Jacoby		5
Development of CRISPR/Cas Genome Editing as a Treatment for Ataxia Telangiectasia	2021	Royal Holloway, University of London	Professor Rafael Yáñez-Muñoz		5
Non-viral gene therapy for A-T	2022	University of Nottingham	Dr James Dixon		5
Natural History of A-T (N-HAT)	2022	University of Nottingham	William Whitehouse & Emily Petley		2
Comparison of immunologic, biochemical, and genomic profile between steroid-responsive and non-steroid-responsive patients with A-T	2022	Maternal-Children's Department of the AOU Policlinico Federico II (Naples)	Dr. Emilia Cirillo, MD, PhD, Pediatrician Level I Program in Pediatric Immunology directed by Prof. Claudio Pignata		5
Modulation of autophagy as a potential therapeutic approach for A-T	2022	Institute of Molecular Biology and Pathology, CNR Via Degli Apuli 4 (Rome)	Dr. Venturina Stagni, PhD		5
Do deficits in cerebellar circuitry precede neurodegeneration in A-T?	2022	Cavalieri Ottolenghi Institute of Neuroscience, Regione Gonzole, 10 - 10043 Orbassano (Torino)	Dr. Eriola Hoxha, PhD		2
A-T cerebellar neurodegeneration and inositol phosphate signalling	2022	The University of Texas at Austin	Tanya Paull		2
Zebrafish disease-model of Ataxia Telangiectasia: a tool to identify potential new therapeutic opportunities	2022	Department of Biology, University of Pisa, Unit of Cellular and Developmental Biology	Dr. Chiara Gabellini		1
p53 Mitotic Centrosome Localization as a functional test to predict pathogenicity of ATM missense variants	2022	IRCCS Regina Elena National Cancer Institute, UOSD of Cellular Networks and Molecular Therapeutic Targets	Dr. Giulia Federici		4
David Peake study to test the feasibility of whole body MRI for cancer surveillance in children and young people with A-T	2023	University of Nottingham	Rob Dineen		4
Deciphering the molecular mechanism linking A-T and Ataxia- Telangiectasia-Like Disorder	2023	University of Birmingham	John Reynolds and Grant Stewart		2
Survey of cancer in A-T patients in the UK	2023	University of Birmingham	Malcolm Taylor		2
Innovative methods for gene therapy in A-T	2024	University of Granada	Ignacio Moilna		5
Recurrent pulmonary infections and their impact on neurologic decline in A-T	2024	University of Rochester, NY	Margot Mayer Proschel		2
STIM A-T Pilot Study	2024	Medicine, Clinical Neuroscience, Nottingham University	Dr Caroline Blanchard		3
Virtual Reality in Ataxia Telangiectasia	2024	Science and Technology Department, Nottingham University	Professor Philip Breedon		3