Congenital disorders

The Windows of Hope project, led by Professor Crosby and Dr Baple, is a translational research programme that works closely with the Anabaptist (Amish and Mennonite) communities, and local healthcare and special needs providers across North America. The aim of the project is to combine research studies with clinical expertise to improve healthcare outcomes and understanding of inherited disease within these communities.

Since the project was established, the underlying genetic causes of over 30 inherited disorders have been identified. Through clinical and diagnostic laboratory collaborations, these research findings have driven disease-specific management strategies leading to measurable differences in clinical, developmental and social outcomes.

Accredited diagnostic genetic testing for certain mutations present in these communities has been made available at significantly reduced cost, and has helped those affected by newly described conditions avoid needless, expensive, and sometimes painful clinical investigations.

Dr Baple is tackling the lack of awareness of these newly described disorders by disseminating clinically-relevant research findings to affected families, healthcare providers and other special needs workers working within the communities. The challenges faced by workers serving the Amish community are also faced by healthcare and educational providers, and research teams seeking to avoid inequality and enhance and support health and educational outcomes in communities across the globe.

The team has created online resources to educate professionals on the benefits of a community approach to genomic medicine and research. This aimed to reduce the health inequalities faced by families and communities affected by inherited disease, and ultimately improve health and developmental outcomes into the long term.