Developed in collaboration with families, clinicians, researchers, and international patient advocacy organisations, the campaign aims to improve public understanding of the genetic and neurological conditions that affect thousands of children and families worldwide. Through clear, engaging, animated videos, the initiative explains complex topics such as neurodevelopment, genetic diagnoses, and emerging therapeutic approaches, including gene therapy.
The campaign responds to a growing need for trustworthy, accessible information about neurodevelopmental disorders — not only for affected families, but also for educators, healthcare professionals, policymakers, and the wider public.
At the heart of the initiative is a co-created video series of 16 short animations, each inspired by real questions and experiences shared by parents and carers. By combining scientific expertise with lived experience, the campaign seeks to make cutting-edge research understandable, relatable, and relevant to everyday life.
“Families consistently tell us that accessible information and public understanding are among their greatest unmet needs,” said Dr Narjes Rohani, lead researcher behind the animations in the Department. “This campaign is about opening up conversations around neurodevelopmental disorders, reducing stigma, and ensuring that advances in therapeutic genomics are communicated in a way that is meaningful and empowering for families and society as a whole.”
Melody Kisor, Director of Advocacy and Education at the FamilieSCN2A Foundation, said: “I am a rare disease sister, bioethicist, health educator, and board-certified patient advocate. In all of these roles, I have seen how critical it is for families to have access to clear, comprehensive, and accessible resources related to complex medical conditions and cutting-edge treatments.
“Until this project, there was a dearth of trustworthy content for rare disease families to access and share. When the FamilieSCN2A Foundation was asked to participate, I was elated at the opportunity to help fill that critical gap. Under Narjes' expert leadership, Genes, Brains, and Breakthroughs was a masterclass in inclusive, patient-centred collaboration. Narjes patiently and respectfully engaged with families and advocacy leaders at all stages of the project, creating a safe place for all voices to be heard and considered. We are so proud of the work that was done, and are so excited to share these adorable animations with the SCN2A community.
“These brilliant educational and communication tools will help caregivers with their own knowledge, but also in communicating critical information to extended family, teachers, and others in the care team. Genes, Brains, and Breakthroughs takes the burden off of advocacy groups and parents to create educational content, and frees up precious resources for other endeavours.”
Kate Bailey, from Hereford in the UK, is mother to 15-year-old Tilly who has a rare chromosome disorder called Tetrasomy 9p. This is characterised by developmental delay and learning disabilities, delays in gross and fine motor skills, speech delay, hypermobility, and sensory processing disorder. Tilly also experiences extreme anxiety and is reliant on her mother for all personal care needs. Kate was motivated to support the creation of the videos following her family’s “awful” experience at diagnosis.
“I wanted to take part in this project to help support such a valuable resource and contribute to helping ensure other families don’t have to go through the awful experience we had with no support offered at all,” she said.
Kate added: “Tilly was diagnosed at age two and a half, after two years of tests, and the last thing they tested for was rare chromosome disorders. Our experience of her diagnosis was very painful: a newly qualified geneticist was sent to tell us the news but he had absolutely no information for us. He couldn’t answer any questions such as will she walk or talk or will she die as a child? All he seemed interested in was taking photographs and measurements as if she was in a circus freak show. On the hardest day of my life, I felt totally unsupported.
“I think these videos are an invaluable resource for parents and also, importantly, an educational tool for the wider community. It is very lonely when your child has a rare chromosome disorder and others don’t understand what you are dealing with. I have loved watching the videos come to life and, as parents, to feel our comments were always listened to and taken on board. I am so excited to see the final versions out in the world, educating families, friends, teachers and medical professionals.”
The videos have been developed by the MRC CoRE in Therapeutic Genomics – an international team of scientists, doctors, patient groups and industry specialists who work together to improve treatments for rare diseases – which is hosted by the Department of Paediatrics. They were made in partnership with advocacy organisations including FamilieSCN2A USA, GRI-UK, SLC6A1 Connect UK, and UNIQUE, ensuring that the campaign reflects the priorities, challenges, and lived experiences of affected communities. The collaborative approach also highlights the importance of involving families directly in shaping public engagement and health communication initiatives.
Professor Stephan Sanders, the MRC CoRE Director, said, “We have a dual mission, to advance genetic medicines and promote excellent research culture. These innovative educational videos embody both missions, with an outstanding early career scientist working closely with families to help make information about genetic medicines more accessible. Navigating genetic testing, diagnosis, and therapies can be disorientating; I hope these videos help families through these challenges.”
The educational resources will be shared widely across digital platforms, healthcare settings, schools, and community networks to support greater awareness, understanding, and inclusion for individuals living with neurodevelopmental disorders and their families.
Helen Newton, from Tamworth in Staffordshire, also said her family’s experience of seeking a diagnosis and information for her son motivated her to become involved in the project.
“My experience of genetic testing for my son was extremely difficult,” she said. “Five years ago, we requested testing for our now 31-year-old son, but it took more than two years for the results to arrive in a letter through the post stating that he had SLC6A1 and SCN2A gene mutations. The letter simply said that our neurologist would have discussed this with us.
“We were referred for genetic counselling, but then faced another wait of almost a year. One of the biggest challenges with rare genetic conditions is that many healthcare professionals simply do not have enough information about them, so families often have to search elsewhere for support and guidance. We eventually found advice and a sense of community online through Arthur’s Quest UK, a support group for families affected by SLC6A1.
“I did not want other families to go through the same experience we did, which is why I wanted to support the Genes, Brains, and Breakthroughs project. These animations will help families better understand rare genetic conditions and emerging research in a way that is accessible and reassuring. Being involved in developing the videos also gave me the opportunity to advocate for families without a scientific or genetic background. I was able to help identify when explanations became too technical and ensure the information remained clear, understandable, and genuinely useful for parents and carers.”
Genes, Brains and Breakthroughs has been funded by the Public and Community Engagement with Research (PCER) Fund at the University of Oxford and the Medical Research Council (MRC) Centre of Research Excellence (CoRE) in Therapeutic Genomics.