With hope and perseverance, everything is possible
No one knows a disease better than those who live it every day. Patients’ active involvement is critical for accelerating the development of treatments.
This is what drove Bina Shah to launch Project 8p in 2018 after receiving her daughter’s diagnosis of chromosome 8p disorder. Chromosome 8p is a rare genetic condition with approximately 350 patients around the world. The most common symptoms are cognitive and intellectual impairment, motor planning delays, apraxia (a neurological disorder characterized by the inability to perform familiar movements on command), congenital heart defects, epilepsy, autism, gastrointestinal dysfunction, poor growth, and hypotonia (weak muscle tone). A chromosome 8p disorder can be severely disabling and impairs physical and mental abilities, resulting in a reduced quality of life and preventing the potential for independent living.
The Rare As One grant will support Project 8p’s collaboration with the Dup15q Alliance, another patient-led advocacy group, to develop the Commission on Novel Technologies for Neurodevelopmental Copy Number Variants (CNVs). The Commission, recently founded by the two organizations, aims to investigate the challenges common to neurodevelopmental CNVs in order to accelerate therapeutic developments.
“Patients’ active involvement is critical for accelerating the development of treatments.”