To establish a Commission that is a patient-driven collaborative group of stakeholders to advance novel technologies to treat people with neurodevelopmental diseases with complex copy number variants/large chromosome anomalies.
*Definition of “Commission: -a group of people officially charged with a particular function.”
“Commission: -bring (something newly produced) into working condition.”
Ethos and Guiding Principles
- Patients as partners to collectively understand disease and remedies under the commonality of neurodevelopmental large chromosomal variations
- Promote open and creative brainstorming to drive innovative approaches
- Culture of trust and respect
- Pro-Active participation and belief that a community approach gets us to the realization of helping patients
- Commitment to freely sharing and transparency of data, biomaterials, and methods to optimize and expedite impact
- Cooperative approach with openness about negative results and trials, experimental shortcomings, and failures
- Adapting in a dynamic manner to reassess therapeutic goals and change direction when necessary
- Overcome boundaries to unfold into borders that can be crossed with regular and effective communication
- Be inclusive, equitable, and encourage diversity
- Ensure representation of neurodevelopmental chromosomal disorders in funding, advocacy, drug development and other regulatory agencies
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.”