Neurodevelopmental disorders

The Neurogenetics Lab at UCL Queen Square Institute of Neurology, led by Professor Henry Houlden, Dr Reza Maroofian, and Dr Rauan Kaiyrzhanov are launching an initiative to enhance awareness, diagnosis, and care for VWA1-related disorders (VWA1-RD).

First identified three years ago, this autosomal recessive hereditary motor neuropathy has a variable onset, from childhood to adulthood, and a slowly progressive course, often mimicking other neuromuscular conditions. Despite its prevalence—approximately 1 in 441 individuals of Western European descent carry the recurrent mutation—VWA1-RD is significantly underdiagnosed.

Prof Houlden's new initiative will establish a digital platform offering accessible resources such as videos, webinars, and information leaflets tailored for patients, families, and healthcare providers. Expert-developed clinical guidelines will be shared widely through journals, conferences, and online platforms to standardise diagnostic and care practices. Healthcare professionals will benefit from accredited online training courses led by neurology specialists, ensuring they remain informed on the latest diagnostic and treatment approaches.

Local and national support groups will be created to connect affected families, fostering community, shared experiences, and access to essential resources. By promoting awareness and equipping clinicians and families with practical tools, this initiative aims to improve diagnosis, enhance care, and elevate the quality of life for those living with VWA1-RD.