Mission

 

Establish a patient-led Commission to rapidly tackle scientific and financial resources to develop shared infrastructure and prioritize treatment for those living with neurodevelopmental chromosome disorders.

Vision

 

Advance the field of technological discovery for treatment of neurodevelopmental disorders with a focus on copy number and structural variants

Our Goals

Short-term goals:

  • Foster team science on proposals and accessing funding through collaboration and synergy under the premise that collectively we can make more progress than what can be achieved individually.

  • Create a Neurogenetics Data Platform and Biorepository that is scalable, interoperable and has value for patients, families, clinicians, and researchers.

  • Bridge gaps in knowledge and resources by summarizing latest developments and approaches, and identifying needs, through oral and written presentations (e.g., commission convenings, conferences, research roadmap, and review articles)

 

Long-term goals:

  • Accelerate research by identifying and developing novel methods, tools and technologies

  • Provide strategic direction and support to grow and increase the impact of the CNV/SV scientific community

  • Support the creation and enhancement of active relationships between researchers and the patient/family community on a global basis

  • Serve as a hub for multiple chromosomal disorders and destination for CNV/SV research

  • Maximize political awareness and financial capital through targeted promotion of key stakeholders

Ethos and Guiding Principles

  1. Patients as partners to collectively understand disease and remedies under the commonality of neurodevelopmental large chromosomal variations 

  2. Promote open and creative brainstorming to drive innovative approaches 

  3. Culture of trust and respect 

  4. Pro-Active participation and belief that a community approach gets us to the realization of helping patients 

  5. Commitment to freely sharing and transparency of data, biomaterials, and methods to optimize and expedite impact

  6. Cooperative approach with openness about negative results and trials, experimental shortcomings, and failures

  7. Adapting in a dynamic manner to reassess therapeutic goals and change direction  when necessary 

  8. Overcome boundaries to unfold into borders that can be crossed with regular and effective communication

  9. Be inclusive, equitable, and encourage diversity

  10. Ensure representation of neurodevelopmental chromosomal disorders in funding, advocacy, drug development and other regulatory agencies

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                  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.”