Help transform our understanding of A-T

If you or your child has A-T, you may be able to help researchers make new discoveries and accelerate the development of therapies. Each patient’s genetic information and medical condition are unique and may be the key for the development of treatments. Share this information, send us a saliva sample for genome sequencing and join us on a journey to learn more about A-T.

A-T is a truly rare disease. To make significant discoveries, scientists can’t rely on only one country’s patients but must receive access to as many patients from around the world as possible.

About this initiative

The Global A-T Family Data Platform is a patient-driven effort overseen by A-T families and experts worldwide through which health information, genetic and potentially other types of data about people with A-T can be shared with researchers. This platform will enable researchers to access important patient data from around the world quickly, securely and efficiently, hopefully leading to new discoveries.

We expect that in the future, the Global A-T Family Data Platform will partner with additional organizations to collect other types of biological and lifestyle data, such as using wearable technologies to capture information about how a person with A-T moves.


The platform’s mission is to enable researchers to access important patient data from around the world quickly, securely and efficiently, hopefully leading to new discoveries. To ensure that the mission and activities are always aligned with what is best for people with A-T around the world, we have established an international Family Oversight Board. Currently, the following family members of A-T patients (listed in alphabetical order) have kindly agreed to serve on this board:

  • Cedric Anchisi (France)
  • Orly Dror-Azuriel (Israel)
  • Natalie Elkheir (Australia)
  • Rianne Kranendonk (Netherlands)
  • Maria Angelica Lodovici (Brazil)
  • Brad Margus (United States)
  • Emily Read (England)
  • Krissy Roebig (Australia)
  • Manoj Kumar Srivastwa (India)
  • Conrad Van Hierden (Canada)
  • Paxti Villen (Spain)
  • Lian Yarlett (England)


In addition to ensuring that the platform’s activities promote and enable data sharing while protecting people with A-T, the Family Advisory Board has selected and invited respected scientists and clinicians to join a Scientific and Medical Advisory Board which will provide expert advice to the Family Advisory Board. It is hoped that the members of this advisory board will not only include experts in the clinical presentation and underlying biology of ataxia-telangiectasia but also experts in the analysis of large datasets such as genome sequence data, biostatistics, application programming interfaces, data security, regulatory issues, medical ethics, legal matters, and surveying methodologies. Currently, the following experts (listed alphabetically) have generously offered to serve on this advisory board:

  • Martin Bobrow, MD – Emeritus Professor of Medical Genetics – University of Cambridge, Cambridge, United Kingdom and Honorary Faculty, Wellcome Trust Sanger Institute, Hinxton, UK
  • Luciana Chessa, MD, PhD – Professor of Medical Genetics, Sapienza University, Roma, Italy
  • David Coman, MD – Medical Director of Paediatrics, Wesley Hospital, Queensland, Australia
  • Beatriz Tavares Costa Carvalho, MD – Associate Professor, Federal University, São Paulo, Brazil
  • Thomas Crawford, MD – Associate Professor of Pediatrics and Neurology, Johns Hopkins Children’s Center, Baltimore, MD, USA
  • David Glazer – Director, Google Genomics, Mountain View, CA, USA
  • Setsuko Hasegawa, MD – Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Japan
  • Lutz Krause, PhD – Associate Professor, The University of Queensland, Queensland, Australia
  • Martin Lavin, PhD – Foundation Professor of Molecular Oncology, University of Queensland, Brisbane, Australia
  • Howard Lederman, MD, PhD – Professor of Pediatrics, Johns Hopkins Children’s Center, Baltimore, MD, USA
  • Nizar Mahlaoui, MD, MSc, MPH – Pediatric Immuno-Hematology, Co-coordinator of The French Reference Center for Primary Immunodeficiencies, Necker Hospital, Paris, France
  • Andreea Nissenkorn, MD – Pediatric Neurologist, Sheba Medical Center, Ramat Gan, Israel
  • Anthony Philippakis, MD, PhD – Chief Data Officer, Broad Institute, Cambridge, MA, USA
  • Agata Polizzi, MD, PhD – National Centre for Rare Diseases, Rome, Italy
  • Cynthia Rothblum-Oviatt, PhD – Science Coordinator, A-T Children’s Project, Coconut Creek, FL, USA
  • Yosef Shiloh, PhD – Professor of Human Genetics, Tel Aviv University, Ramat Aviv, Israel
  • Grant Stewart, PhD – Professor of Cancer Genetics, University of Birmingham Medical School, Birmingham, UK
  • Dominique Stoppa-Lyonnet, MD, PhD – Professor of Genetics, Paris Descartes University and Head of the Genetics Department, Institut Curie, Paris, France
  • Masatoshi Takagi, MD, PhD – Associate Professor, Tokyo Medical and Dental University, Tokyo, Japan
  • Anne-Marie Tassé, PhD – Executive Director, Public Population Project in Genomics and Society, Montreal, Canada
  • A. Malcolm Taylor, PhD – Professor of Cancer Genetics, University of Birmingham Medical School, Birmingham, UK
  • William Whitehouse, MD – Clinical Associate Professor, University of Nottingham, Nottingham, UK
  • Stefan Zielen, MD, PhD – Children’s Hospital of Johann Wolfgang Goethe University, Frankfurt, Germany