Commission on Novel Technologies
for Neurodevelopment CNVs

In the middle of the Image

Bina shah, Project 8p Foundation

On the right side of the image

Vanessa Vogel Farley, Global Genes and
Dup15Q Alliance

On the left side of the image

Yssa DeWoody,
Ring 14USA

Bina shah, Project 8p Foundation

Vanessa Vogel Farley, Global Genes and
Dup15Q Alliance


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

Shared Infrastructure Goals

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: Shared Stories, Common Challenges

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

Marie, Ring14 USA

Brendan, Dup15q Alliance

Karina, Project 8p


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 [1]) 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

Play Video

Why we launched the Commission? 

Play Video

Rare Disease Day 2023

How to Request Samples

  1. Please submit a Materials Transfer Request:
  2. Your request will be reviewed by the RARE-X Research Team
  3. If the request is approved, you will be sent a Materials Transfer Agreement via DocuSign. This must be signed PRIOR to sample shipment.
  4. The RARE-X Research Team will reach out to coordinate shipping details.

How to Request Phenotypic Data

  1. Please submit a Level 2 Data Request
  2. Your request will be reviewed by the RARE-X Research Team
  3. If your request is approved, you will be asked to sign the following data protection documents, to ensure compliant and responsible data sharing.
      a. Researcher Data Use Agreement (DUA)
      b. Data Access Request (DAR)
      c. Researcher Data Protection Agreement (DPA)
  4. The RARE-X Research Team will reach out to coordinate the secure transfer of de-identified data.

Our Charter


Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact

Long-Term Goals of Commission for NDD CNVs

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

Ethos and Guiding Principles

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

Featured Article

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.

Key Opinion Leaders

Elizabeth Buttermore

Stormy Chamberlain

Jannine Cody

Gregory Costain

Louis Dang

Andrew DeWoody

Yssa DeWoody

Kira Dies

Evan Eichler

Santhosh Girirajan

Vanessa VogelFarley

Marie Gramm

Alycia Halladay

Dennis Lal

Matthew Lalli

Tess Levy

Glennis Logsdon

Daniel Lowenstein

Heather Mefford

Jennifer Mulle

Alysson Muotri

Vanessa VogelFarley

Melissa Murphy

Eduardo Perez Palma

Stefan Pinter

Rebecca Pollak

Ryan Purcell

Rodney Samaco

Bina Shah

Karun Singh

Joyce So

Maria Sundberg

Surabi Veeraragavan

Commission Milestones

DEC 10 2020

Initial working groups kickoff -75 KOLS participating​

JUL 7-9 2021

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)​​

DEC 2020 - MAR 2021

10+ bi-weekly WG meetings

  • Community Engagement
  • Animal Models
  • In Vitro Models
  • Genomics/Bioinformatics

JUL 06 2021

Moving Mountains Science Conference in
Westminster, CO
– 45 researchers (22 in-person and 23 virtual)

Writing session for the Roadmap
Interact with the families ​

Mar 03 2021

Virtual  Collective Impact Conference
 – Reporting out of working groups​

JAN 2022

Illumina Partnership Finalized​


We continue to collect data and biosamples and are preparing to write several grants and an another

JAN 2022

Launched the Neurogenetic Multidisciplinary Clinic at Children’s Hospital of Colorado. 

Clinical Data entered in Clinical Research Data Platform.​

AUG 2022

Published paper in AJHG​

2021 Joint Conference Achievements 

Moving Mountains

Family and Science Conference 
Denver, CO

July 7-9, 2021

319 In-person attendees, 211 Families served, 104 Virtual attendees
65 Professional attendees, 61 Affected individuals, 27 Travel Scholarships

3 Syndromes

CNV Portal - resource created by the Commission and investigator Dennis Lal

Play Video

Project 8p

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.

Ring 14 USA & Ring 14 International

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

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.

The Project 8p Foundation (Project 8p) was created in 2018 to:

  • Accelerate future treatments, not only for 8p, but potentially for other chromosome-wide diseases as well.
  • Lead with knowledge from patients. Currently, there is no cure for 8p disorders, nor is there a standard course of treatment.

The Project 8p Foundation (Project 8p) was created in 2018 to:

  • Raise transformative funding for pioneering scientific research into treatments for a complex, rare disease involving 250+ affected genes on the short arm of the 8 th chromosome (8p). Rearrangements of these genes causes significant abnormalities to the entire neurological system, thus all organs and functions of the body– with variance in cognitive functions, gross motor skills, social development and other challenges during infancy, and throughout life;
  • Empower a unified community of 8p patients and their families so they can have meaningful lives today; and
  • Accelerate future treatments, not only for 8p, but potentially for other chromosome-wide diseases as well.