Global Directory A-T Global Directory


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:

1. Underpinning Research - Developing new tools and techniques for conducting research
2. Aetiology - Understanding the causes of A-T
3. Prevention of Disease and Conditions, and Promotion of Well-Being - Studies to identify new treatments for A-T
4. Detection, Screening and Diagnosis - Tests for diagnosing and monitoring patients with A-T
5. Development of Treatments and Therapeutic Interventions - Creating drugs and therapies to alleviate the symptoms of A-T
6. Evaluation of Treatments and Therapeutic Interventions - Studies to prove how new treatments work and understand how to use them
7. Management of Diseases and Conditions - Managing the symptoms of A-T
8. Health and Social Care Services Research - Evaluating the services provided to A-T patients and cost effectiveness of treatments

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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 netherlands 4
IMAGIN-AT – advanced lung imaging and function testing in A-T In Progress University of Nottingham Dr Jayesh Bhatt and Dr Andrew Prayle uk 4
Further development of CRISPR/Cas Genome Editing as a treatment for A-T In Progress Royal Holloway, University of London Dr Yanez-Munoz uk 5
ASO Project In Progress A-TCP Dr Timothy Yu usa 6
Innovative methods for gene therapy in A-T In Progress University of Granada Ignacio Moilna spain 5
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 uk 7
Recurrent pulmonary infections and their impact on neurologic decline in A-T In Progress University of Rochester, NY Margot Mayer Proschel usa 2
David Peake study to test the feasibility of whole body MRI for cancer surveillance in children and young people with A-T In Progress University of Nottingham Rob Dineen uk 4
Deciphering the molecular mechanism linking A-T and Ataxia- Telangiectasia-Like Disorder In Progress University of Birmingham John Reynolds and Grant Stewart uk 2
Does Loss of ATM Suppression of the SMG1 Kinase Contribute to the A-T Phenotype? In Progress Duke University, North Carolina Mike Kastan usa 2
Survey of cancer in A-T patients in the UK In Progress University of Birmingham Malcolm Taylor uk 2
Investigating Liver Dysfunction in A-T Patient Hepatocytes In Progress Australian Institute of Bioengineering and Nonotechnology, University of Queensland Sarah Withey australia 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 australia 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 australia 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 italy 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 uk 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 italy 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 italy 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 italy 2
Brain-penetrating ATM gene therapy In Progress Nottingham University Hospital Dr James Dixon uk 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 italy 2
Trial REadiness in Ataxia Telangiectasia (TREAT-AT) In Progress University of Cambridge Dr Rita Horvath and Dr Anke Hensiek uk 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 australia 1
Understanding and correcting glucose metabolism defects in A-T In Progress The FIRC Institute of Molecular Oncology, Milan, Italy Associate Professor Vincenzo Costanzo italy 5
A possible new role for ATM in maintaining healthy mitochondria 2017 Duke University, North Carolina Professor Mike Kastan usa 2
Stem cell transplantation for A-T 2017 Goethe-University, Frankfurt Associate Professor Schubert germany 5
Oxidative stress, metabolite insufficiency and mitochondrial dysfunction: A new paradigm in A-T 2018 Centre for Clinical Research, University of Queensland Martin Lavin australia 3
Blocked DNA double-strand breaks in the pathogenesis of A-T (Fellowship) 2018 Consejo Superior de Investigaciones Científicas (CSIC) Almudena Serrano Beníte; Felipe Cortés Ledesma (supervisor) spain 2
Identifying potential mechanisms to suppress A-T pathologies 2019 The Gurdon Institute, University of Cambridge Professor Steve Jackson uk 2
The Stephen Green project for the study and treatment of DNA production defects in A-T 2019 IFOM Fondazione Istituto FIRC di Oncologia Molecolare, Milan Dr Vincenzo Costanzo italy 2
Gene therapy in A-T 2019 IBCN-CNR, Monterotondo, RM Dr. Manuela Pellegrini italy 5
Glutamine metabolism in A-T cells 2019 Dept. of Biomolecular Sciences, University of Urbino Dr. Michele Menotta italy 6
Identifying new therapies for blood cancers in patients with A-T 2020 University of Birmingham Professor Malcolm Taylor uk 5
Longitudinal brain changes in childhood A-T 2020 University of Nottingham Dr Rob Dineen uk 4
A zebrafish model of A-T 2020 Sheffield University Dr Andrew Grierson uk 1
The use of patient stem cell-derived mini-brains to study A-T 2020 University of Oxford Samuel Nayler uk 1
Unravelling the antibody defciency in A-T 2020 Erasmus University Medical Centre, Rotterdam Associate Professor Mirjam Van der Burg netherlands 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 spain 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 france 2
Exploiting cellular immunotherapy for lymphoid malignancies in patients with A-T 2021 Sheba Medical Centre Elad Jacoby israel 5
Development of CRISPR/Cas Genome Editing as a Treatment for Ataxia Telangiectasia 2021 Royal Holloway, University of London Professor Rafael Yáñez-Muñoz uk 5
Non-viral gene therapy for A-T 2022 University of Nottingham Dr James Dixon uk 5
Natural History of A-T (N-HAT) 2022 University of Nottingham William Whitehouse & Emily Petley uk 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 italy 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 italy 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 italy 2
A-T cerebellar neurodegeneration and inositol phosphate signalling 2022 The University of Texas at Austin Tanya Paull usa 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 italy 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 italy 4