Establish a patient-led Commission to rapidly tackle scientific and financial resources collectively to prioritize treatment for those living with neurodevelopmental chromosome disorders.
Advance the field of technological discovery for treatment of neurodevelopmental disorders with a focus on copy number variants
Create a Neurogenetics Data Platform and Biorepository with a shared infrastructure that is scalable, interoperable and has value for patients, families, clinicians, and researchers.
CNVs are a major cause for NDD and birth defects ~10%
CNVs are under investigated group with shared phenotypes
Modeling and potential therapeutics are likely common to many if not all CNV’s
– Anthony Wynshaw-Boris
What defines a copy number variant?
“ deletion and duplication polymorphisms larger than 1 kb. These so-called copy number variations (CNVs) cause many segments (collectively spanning as much as 0.78% of base pairs ) to differ in copy number between any two individuals’ genomes and can impact phenotypes by causing gene dosage and structure…. “
Inclusion of structural variants like rings or large deletions, duplications or translocations
Accelerate research by identifying and developing novel methods, tools and technologies
Enhance the active relationship between researchers and the patient/family community on a global basis
Maximize political awareness and financial capital through targeted promotion of key stakeholders
Provide strategic direction and support in order to grow and increase the impact of the CNV scientific community
Serve as an umbrella for multiple chromosomal disorders and destination for large CNV research
1. Patients as partners to collectively understand disease and remedies under the commonality of neurodevelopmental large chromosomal variations
2. 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
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.
Initial working groups kickoff -75 KOLS participating
Moving Mountains SHARED Family Conference in Westminster, CO
-Dup15q, 8p, and Ring14 families and professionals represented.
Start of data collection into the Clinical Research Platform (powered by RARE-X)
10+ bi-weekly WG meetings
Moving Mountains Science Conference in
– 45 researchers (22 in-person and 23 virtual)
Writing session for the Roadmap
Interact with the families
Illumina Partnership Finalized
Published paper in AJHG
Family and Science Conference
July 7-9, 2021
319 In-person attendees, 211 Families served, 104 Virtual attendees
65 Professional attendees, 61 Affected individuals, 27 Travel Scholarships
Project 8p is a patient-led nonprofit organization that is researching 8p disorders to find treatment options and give meaningful answers to those affected and their families.
Ring14 USA & Ring 14 International are patient-led nonprofit organizations that are researching ring 14 disorders to find treatment options and give meaningful answers to those affected and their families.
Dup15q Alliance empowers individuals living with dup15q syndrome and other related rare diseases to reach their full potential by advancing breakthrough research and life-changing therapeutic treatments, promoting advocacy and supporting families affected by dup15q syndrome.