Project 8P Foundation
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Mission Statement
To empower a unified community for chromosome 8p heroes for a meaningful life today while accelerating treatments for tomorrow.
About This Cause
Project 8p Foundation, is a non-profit organization established to accelerate the discovery of treatments for chromosome 8p disorders with a translational research program and a standard of care to empower meaningful lives in a unified community today. We are patient-led and patient-centered with approximately 350 – 500 patients diagnosed with this neurological/neurodevelopmental and systemic disorder that results in mild to severe disabilities. There are many more that do not have access to genetic testing. The impact of 8p conditions varies between individuals and their abilities. Some people may not learn to talk, may use a wheelchair and need more support services. Others are mobile, can communicate and can achieve greater independence. Specifically, the disorder can also result in: ● Congenital heart disorders ● Intellectual disabilities & Global Developmental Delays ● Seizures (epilepsy) ● Autism ● Apraxia (Speech problems) ● Sensory processing disorder ● Motor planning difficulties ● Visual conditions ● Growth deficiency ● Feeding and digestive challenges ● High (hypertonia) and low (hypotonia) muscle tones ● Musculoskeletal issues such as hypermobility (lax joints) ● Mild craniofacial differences ● Sleep disorders Currently, there is no cure for 8p disorders, nor is there a standard course of treatment. Project 8p is an active member of the rare disease community and in a short amount of time since our inception in Nov 2018, we assembled our 1st Family and Scientific Conference in 6 months with over 250 attendees, including supporting 63 families to attend in NYC. We are funding early science research programs to begin understanding the genetic makeup of the disorder with the goal of finding treatment options. There are many challenges in accomplishing this; however, we are working diligently to define the program goals, build capacity, and find dedicated researchers, clinicians, and organizational partners that support our cause. Importance of our work during COVID-19 and the corona virus pandemic: How are we efficiently adapting to the current corona virus pandemic and our communities’ needs? During these unsettling times, Project 8p is committed to supporting patients and their caregivers. After all, a rare disease doesn’t stop because of COVID-19, and patients do not have time to wait. In fact, they need us now more than ever and our problems will persist long after this pandemic. Please make a difference during this crisis as families face two frightening diagnoses – the coronavirus and a poorly understand rare disease right now. Families struggle with how to utilize remote learning and teletherapy, cover their costs, and manage their sources of income. Program Objectives: Our work is ever so important and we want to assure our patients and their families that we are staying the course with our investment in research and support, so there is no lag or delay in accelerating new and better treatments to our 8p heroes. 1. Operating Support and Organizational Capacity – Working capital is critical to support the infrastructure of the organization for long-term sustainability. This requires recruitment and preservation of essential staff and administrative overhead, ensuring best practices in governance, and never steering from the mission and our charitable purpose. Educational outreach and offering of tools to the community to empower them to share their stories is critical for researchers and clinicians to know how to help. 2. Health Technology Platform – We have been conducting a comprehensive due diligence and vendor selection process for an investment in an Interoperable Technology Platform that incorporates patient reported data, clinical EHR/EMR records, clinician/researcher reported data to support caregivers. This is even more critical given current pandemic as our academic labs are temporarily shut down that house our data. The objectives are to: a. better understand the disorder b. empower patients/caregivers to organize and manage their own health details and care c. observe comparisons of the patient group d. inform research strategies and decisions e. create a standard of care f. assess meaningful outcomes to ensure successful treatment options 3. Consortia of Clinical and Therapeutic Centers of Excellence – Our goal is to establish a working consortium of clinicians and providers that can help us better understand the disorder, establish effective protocols, and publish a meaningful standard of care. This also will support our translational research efforts in gathering relevant data for meaningful outcomes. We can also learn a tremendous amount about the disorder and establish effective protocols and a standard of care that does not exist for chromosome 8p disorders. a. Clinic models can be in collaboration with other related disorders within a hospital university setting. i. Utilizing telehealth practices, have health coaches discuss a variety of approaches to stay healthy and empower and educate caregivers on what symptoms to pay attention and how to address them. b. Therapeutic intervention/education – i. Designing a protocol to reach the international community with distance learning/education practices and interactive structured webinar series with measurable outcomes. Interventions can include pragmatic home-based therapy starting at birth and functional skills for all ages via: 1. Physical therapy 2. Occupational therapy 3. Speech therapy 4. Feeding therapy 5. Behavioral therapy 6. Mobility aids 7. Communication aids 8. Nutritional support 4. Research – The largest program is sponsored research with academic labs, contract research organizations, and partnerships with industry. In our current basic science stage, we are investing in disease-specific: a. Induced Pluripotent Stem Cells and CRISPR Technologies b. 2D and 3D Neuronal Cells (Brain Organoids) and Brain Networks c. Animal Models d. Bioinformatics 5. Family and Scientific Conference – Convening of 8p heroes that are affected by the disorder with all stakeholders. These conferences add substantial value in identifying what is most important and would be beneficial for 8p heroes and families. Our organizational philosophy is built around a strong ethos of stakeholders that are patient-centered supporting collaboration, transparency, and resource sharing to achieve our mission. Project 8p is committed to maximizing every opportunity and resource. The next time a human being is diagnosed with an 8p condition, our goal is that the doctors, families, educators, and truly anyone has free and easy access to a comprehensive toolkit about the diagnosis and what to expect for the future. If we can alleviate some of the uncertainty, and build on this information, we believe we can achieve treatment remedies.