Families will contribute their data using on-line family questionnaires, whole-genome sequencing and other approaches, serving as a model for other diseases
Families around the world who have children affected by ataxia-telangiectasia (A-T) today announced the launch of the Global A-T Family Data Platform, through which health, genomic and potentially other types of data about their children with A-T will be responsibly collected and rapidly made accessible to scientists and physicians for analysis. It is expected that, by aggregating and harmonizing data from patients around the world, and by gathering additional data from families over time, this new resource will advance the understanding, diagnosis and treatment of this rare but brutal disease.
Ataxia-telangiectasia (A-T) is an inherited, neurodegenerative disease. A child with A-T begins to suffer from progressive loss of muscle control around the age of two years. By the age of nine or ten, children with A-T usually become dependent on wheelchairs and their speech becomes slurred. Reading and swallowing also become difficult. About 30 percent of A-T children develop cancer, and most of them have some degree of immune system problems.
“We’re confident that this platform will enable researchers to access important patient data from around the world quickly, securely and efficiently, hopefully leading to new discoveries,” said Krissy Roebig, a parent of two children with A-T in Australia.
“A-T is a truly rare disease, probably affecting no more than one thousand patients worldwide,” said Cedric Anchisi from France, who lost a daughter to A-T in 2012. “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.”
“Besides providing experts with a dynamic, unprecedented data set that can continue expanding over time, we wanted to make sure patient privacy was protected and that we adhered to the highest ethical standards,” said Brad Margus, an American with two sons affected by A-T. “In addition, we’re taking numerous steps to make sure the platform will be truly global and inclusive.”
Families Share and Control the Data
Parents participating in this initiative share their child’s medical information and have the option to share a sample of their child’s saliva for whole genome sequencing. The DNA and health data will be analyzed and shared with researchers in a de-identified manner, and participants will be apprised of research progress resulting from their participation.
Data Access Committee
The information on the Global A-T Family Data Platform can only be accessed by qualified investigators who have been granted permission by a data access committee comprised of A-T family representatives who in turn recruit experts for a scientific and medical advisory board, ensuring that each researcher’s project is consistent with the goals of this initiative. The family oversight board oversees the scientific and medical advisory board.
Family Oversight Board
The Family Oversight Board, which currently includes the following family members of A-T patients from 10 different countries, will ensure that the mission and activities are always aligned with what is best for people with A-T around the world:
- Cedric Anchisi (France)
- Orly Dror-Azuriel (Israel)
- Mireille Gervasoni (France)
- 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)
Scientific and Medical Advisory Board
The Family Advisory Board has selected and invited respected scientists and clinicians to provide expert advice to the Family Advisory Board. The members of this advisory board include not only 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. The current Scientific and Medical Advisory Board includes:
- 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
- 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
Financial Support of the Global A-T Family Data Platform
Currently, the development and operation of the Global A-T Family Data Platform is being financially supported by the Ataxia-Telangiectasia Children’s Project, Inc., better known as the A-¬T Children’s Project, a non¬profit organization based in Coconut Creek, Florida, USA. Other A-T organizations, clinicians, and families from around the world are supporting this endeavor by encouraging family participation, helping to oversee access to the data, and perhaps in the future, will also contribute financial support.
The Global A-T Family Data Platform is forming relationships with strategic partners for various aspects of this initiative. One partner is the Broad Institute of MIT and Harvard, who is providing the whole genome sequencing as well as advice related to computational and regulatory aspects of the platform. In the future, the Global A-T Family Data Platform will partner with additional organizations for assistance with various components, including collecting other types of biological and lifestyle data, such as using wearable technologies to capture information about how a person with A-T moves.
To learn more about this initiative and to stay posted on the latest findings, please visit www.atfamilies.org.