Breaking Boundaries: ‘Window of Hope’ for North American Anabaptist communities
A landmark translational research project called Windows of Hope, led by Professor Andrew Crosby and Dr Emma Baple from the University of Exeter, has defined more than 150 different genetic disorders in North American Anabaptist (Amish/Mennonite) communities, 25 of which were new to medical science.
Established in 2000, Windows of Hope has been working closely with Amish and Mennonite communities and their clinical care providers, to deliver the immense clinical, social and scientific benefits of undertaking translational research into genetic diseases affecting families living with this often devastating disorders. Their approach ensures that patients, families and the wider community benefit directly and in real time from the work taking place with their community.
The Exeter team works closely with the New Leaf Clinic for Special Children in Ohio, the Center for Special Children in La Farge, Wisconsin, and other regional specialist clinics. Before the Exeter project began, <15% of Amish patients with a genetic disorder from the communities in which they work received a much-needed genetic diagnosis. Due to the efforts of the Exeter research team , their clinical and academic colleagues, and the Amish community, the current figure is now closer to 70%.
One example of the benefits of the Exeter teams work relates to a specific genetic disorder that affects brain development of affected children. Many children with this condition have previously undergone many expensive and sometimes invasive and painful clinical tests to try to reach a diagnosis. The team discovered that a common clinical feature of the condition involves an unusually long big toe, meaning a diagnosis can now be made simply by removing the child’s socks.
Another examples entails other conditions in which Amish children have previously been given a diagnosis of ‘autism’. The Exeter team was able to determine that four distinct genetic conditions are in fact responsible for these children’s difficulties. The Exeter team defined the clinical characteristics of each of these four conditions, each of which benefits from an individual clinical management strategy targeted at that disorder. The Exeter team have developed diagnostic testing and also identified new treatment avenues for two of these conditions, which are currently undergoing preclinical trials.
Many aspects of the Exeter teams work has been funded by an unparalleled succession of six consecutive awards from Medical Research Foundation (MRF), a charity who provide funding exclusively for research with direct translational benefits. This includes developing a searchable database of all known inherited disorders affecting the community available through the project website (www.WOHproject.com), a resource which is widely used by affected families as well as clinicians, genetic counsellors, healthcare workers, teachers and academics worldwide to obtain information regarding the causes, nature and management of these disorders. The MRF also funded the teams’ development of a Massive Open Online Course (MOOC), provided through FutureLearn, to teach academics and clinicians about their approach and the extraordinary translational benefits of genomic and clinical research in a community setting. The course includes video and audio recordings of Amish families describing their journey in search for a diagnosis, highlighting how the research undertaken by the Windows of Hope team has helped them and other families like them globally.
The Exeter team have also developed and delivered information days, educational meetings and academic symposia for families affected by the genetic disorders they have identified, as well as healthcare workers and educational providers to inform them about the spectrum and nature of genetic disorders in the community. Together the work of the Exeter team has dramatically improved diagnosis and clinical management of genetic disorders affecting the community. Their work has also substantially reduced the medical costs of tackling these conditions, providing estimated savings of >$100 million for the community. Their research also provides similar benefits to families worldwide affected by the same rare genetic disorders, with the discoveries in this community now being utilised globally.
More information regarding the work of the Exeter team can be found by listening to Professor Crosby / Dr Baple’s Radio 4’s Inside Science interview, the MRF website article describing the Exeter study, and the FutureLearn MOOC.
Breaking boundaries provides a bitesize look into the variety of leading research that has, and still is changing the world from the University of Exeter.
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