The University of Oxford and Boston Children’s Hospital, with collaboration from The Jackson Laboratory and N=1 Collaborative, have been selected to establish a new Genetic Medicines Hub , one of six research hubs within the Aligning Research to Impact Autism (ARIA) ecosystem. The Genetic Medicines Hub is a collaborative research effort led by the University of Oxford and Boston Children’s Hospital, that is developing a scalable platform to design, test, and accelerate genetic medicines, including antisense oligonucleotide (ASO) therapies, for children with specific genetic disorders causing neurodevelopmental disorders (NDDs), including profound autism. The $46M multi-year commitment brings together leading expertise in genomics, neuroscience, and translational medicine.
While advances in genetic sequencing have rapidly increased understanding of the biological basis of many neurodevelopmental conditions, translating these discoveries into scalable therapeutic strategies remains a significant challenge. ARIA is leading the way in an effort to address this critical bottleneck in the field.
At the core of the program is the development of a platform-based approach to genetic medicines, focused initially on antisense oligonucleotides (ASOs), which are short, synthetic molecules that can be designed to interact with RNA and modify gene expression. ASOs have been used to successfully treat disorders of the central nervous system, offering an opportunity for rapid translation.
Rather than pursuing one condition at a time, the Genetic Medicines Hub will establish systematic methods to design, test, and optimise these molecules across multiple genetic targets. This approach is intended to improve efficiency, reduce duplication, and enable progress across a wider range of rare conditions.
The program will initially focus on a set of genes associated with NDDs, including ARID1B , CHD2 , GRIN2B , RNU4-2 , SCN2A , and SLC6A1 , working hand-in-hand with another research hub, the ARIA IMPACT Network and gene-specific Patient Advocacy Groups.
The Genetic Medicines Hub will combine cutting-edge experimental and computational capabilities, including:
Together, these elements are designed to create a reproducible, scalable pipeline for genetic medicine development and to generate a shared resource for the wider research community.
The Hub brings together complementary strengths across Boston Children’s Hospital, the University of Oxford, The Jackson Laboratory and N=1 Collaborative, combining expertise in human genetics, functional genomics, clinical research, and therapeutic development.
Stephan Sanders, Professor of Paediatric Neurogenetics at the Department of Paediatrics in the University of Oxford, said: “This program represents a step change in how we approach developing genetic medicines. By building a platform that can be applied across multiple genes, we can move beyond fragmented efforts and begin to scale our impact. Importantly, this work is grounded in collaboration and open science, ensuring that the knowledge generated benefits the broader community.”
Tim Yu, Associate Professor of Paediatrics at the Boston Children’s Hospital, added: “Genetic neurodevelopmental disorders have long faced a bottleneck between gene discovery and therapeutic development. By uniting world-class teams and building a shared, transparent blueprint for ASO innovation, we aim to make that bottleneck disappear. This Genetic Medicines Hub will allow us to move from scientific insight to actionable therapies with unprecedented speed—and to do so in a way that benefits the entire field.”
Cat Lutz, Vice President of the Rare Disease Translational Center at The Jackson Laboratory, said: "For rare disease patients, the biggest barrier has never been scientific ambition, it's been data. JAX has built its rare disease mission around open, deeply annotated genomic resources, and this collaboration is a direct extension of that commitment, ensuring rare conditions have the depth of evidence needed to drive genetic medicine development forward.”
Nicole Nolen, Executive Director of N=1 Collaborative, said: “Reaching more patients requires more than advancing individual programs—it requires a field that learns together. This collaboration creates an opportunity to turn what is learned into shared approaches that can be adopted and built upon across the community.”
Together, the teams aim to develop safe and effective ASO therapies for several NDDs while establishing a sustainable framework for advancing genetic medicines across a much wider range of conditions.
Media contact:
For more information and for interviews please contact:
Laura Borg, Communications Lead, Department of Paediatrics laura.borg@paediatrics.ox.ac.uk , 07773226017
Alex Hladick Bueno, Associate Director, Public Relations, Boston Children’s Hospital alexandra.hladickbueno@childrens.harvard.edu
Patrick Skahill, Manager, Media Relations, The Jackson Laboratory patrick.skahil@jax.org , 860-839-3309
About the Department of Paediatrics at the University of Oxford
The Department of Paediatrics at the University of Oxford is a global leader in the research, delivery and advancement of the health and care of children and adolescents. It hosts internationally renowned programmes in drug development, immunology, neuroimaging, neuromuscular conditions, oncology and vaccinology to name a few, and its work spans from early proof-of-concept and fundamental science to its application in clinical settings.
The Department of Paediatrics’ pioneering research, policy development and clinical excellence is led by world-class experts in their field and it has a long track record of success in the development and delivery of effective treatments and interventions. Its work is supported by the clinical and educational resources of one of the world’s foremost academic institutions.
About the University of Oxford
Oxford University has been ranked number 1 in the Times Higher Education World University Rankings for the eleventh year running, and number 3 in the QS World Rankings 2024. At the heart of this success are the twin-pillars of our ground-breaking research and innovation and our distinctive educational offer.
Oxford is world-famous for research and teaching excellence and home to some of the most talented people from across the globe. Our work helps the lives of millions, solving real-world problems through a huge network of partnerships and collaborations. The breadth and interdisciplinary nature of our research alongside our personalised approach to teaching sparks imaginative and inventive insights and solutions.
About Boston Children’s Hospital
Boston Children’s Hospital is ranked among the best children’s hospitals in the nation by U.S. News & World Report and is a pediatric teaching affiliate of Harvard Medical School. Home to the world’s largest research enterprise based at a pediatric medical center, Boston Children’s has led the way in life-changing pediatric innovation since its founding in 1869. Today, 3,000 researchers and scientific staff, including 15 members of the National Academy of Sciences, 37 members of the National Academy of Medicine and 13 Howard Hughes Medical Investigators across ~1M square feet of lab space comprise the research community. From bench to bedside, scientists work on preventing, treating, and curing diseases that impact both children and adults, no matter how rare or complex the condition. Founded as a 20-bed hospital for children, Boston Children’s is now a 491-bed comprehensive center for pediatric and adolescent health care.
With nine satellite locations and the Martha Elliot Health Center, Boston Children’s also provides 24/7 paediatric care at five hospitals including Beverly Hospital, Winchester Hospital, St. Luke’s Hospital, South Shore Hospital and Cape Cod Hospital.
Boston Children’s also includes: Affiliation with Franciscan Children’s Hospital, including 112 beds and 700+ employees; Boston Children’s Primary Care Alliance, a robust network of 33 pediatric practices serving patients and families throughout Massachusetts; The Pediatric Physicians’ Organization at Boston Children’s Hospital (PPOC) with more than 400 physicians, nurse practitioners, and physician assistants devoted exclusively to pediatric primary care, in close collaboration with subspecialists at Boston Children’s in more than 90 locations throughout Massachusetts; Boston Children’s Health Physicians (BCHP) which is the largest pediatric multispecialty group in New York’s Metropolitan Area, the Hudson Valley, and Connecticut, including nearly 300 clinicians in more than 60 locations. For more, visit our Answers blog and follow us on Facebook , YouTube , and LinkedIn .
About The Jackson Laboratory
The Jackson Laboratory (JAX) is an independent, nonprofit biomedical research institution with a National Cancer Institute-designated Cancer Center. JAX leverages a unique combination of research, education, and resources to achieve its bold mission: to discover precise genomic solutions for disease and empower the global biomedical community in the shared quest to improve human health. Established in Bar Harbor, Maine, in 1929, JAX is a global organization with nearly 3,000 employees worldwide and campuses and facilities in Maine, Connecticut, California, Florida, New York, and Japan. For more information, visit www.jax.org .
N=1 Collaborative (N1C) is the professional home for Interventional Genetics, bringing together practitioners, developers, patients, families, and other stakeholders advancing individualized genetic medicines. N1C enables the ecosystem by convening and connecting the community to exchange knowledge, collaborate, and develop shared standards, tools, and infrastructure that support the responsible development and delivery of individualized therapies. Founded in 2021 as a 501(c)(3) nonprofit organization, N1C works to build a more connected field where knowledge, data, and approaches can be shared and built upon across institutions, disciplines, and geographies. For more information, please join N1C’s virtual platform, Connections , and follow us on LinkedIn .