PLATINUM2023

ASXL Rare Research Endowment Foundation

Improving care for those living with Bohring-Opitz, Shashi-Pena and Bainbridge-Ropers Syndromes through research and education

aka ARRE Foundation   |   Portland, ME   |  www.arrefoundation.org

Mission

Our mission is to support research and education that lead to improved quality of life for individuals with ASXL syndromes, which include Bohring-Opitz Syndrome, Shashi-Pena Syndrome, and Bainbridge-Ropers Syndrome. We help families understand best practices for care management through resources and educational programs. We know the family voice is critical in defining the research priorities that will have the biggest impact on the ASXL community. We help researchers and medical professionals connect with each other to exchange ideas and information. We help them get the research samples and data they need to study ASXL syndromes and understand the impact of their work on families.

Ruling year info

2018

Chair

Laura Badmaev

Main address

P.O. Box 4662

Portland, ME 04112 USA

Show more contact info

EIN

82-3890665

NTEE code info

Medical Specialty Research (H90)

IRS filing requirement

This organization is required to file an IRS Form 990 or 990-EZ.

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Communication

Programs and results

What we aim to solve

SOURCE: Self-reported by organization

ASXL syndromes occurs from random genetic changes in ASXL genes that occur at conception. Many children have global developmental delays, and complex medical issues including severe neurological and respiratory issues. Most individuals are completely dependent on caretakers for every aspect of their care. These children have complex clinical issues and often see specialists who do not have the knowledge or experience to properly manage their care due to the rarity and unknowns of their syndrome. There are few evidence-based publications for reference and significant unknowns about the mechanisms behind these congenital ASXL mutations. There are no treatments or therapies in development for ASXL-related disorders. We seek to change that by building the network of scientists and doctors interested in the ASXL genes and ASXL disorders and funding research.

Our programs

SOURCE: Self-reported by organization

What are the organization's current programs, how do they measure success, and who do the programs serve?

ASXL Family Education

The ARRE Foundation provides medical education to families living with ASXL syndromes that empower families with information to be their child's best advocate and get the best care. This includes regular webinars with families sharing their experiences, research updates, and education events by medical professionals. The flagship event of our ASXL Family Education program is the ASXL Family Conference. Starting in 2022, this family meeting is held every other year. This multi-day program includes medical education programming for families from the world's leading clinicians, peer-to-peer learning opportunities for families, and a Research Room for families to enroll in critical research studies. Most of all, the conference is an opportunity for everyone in the ASXL community including families, doctors and researchers, to meet, learn, and celebrate with each other.

Population(s) Served
Families
Caregivers
People with disabilities

The ARRE Foundation supports basic scientific and clinical research grants to study aspects of ASXL-related disorders, the ASXL genes, and their mechanisms.

Population(s) Served
Families
Researchers

The ARRE Foundation plays a catalyzing role in the growth of the global network of doctors and scientists who are studying studying aspects of the ASXL genes and ASXL syndromes. This includes hosting virtual quarterly Research Roundtables for clinical and basic research, providing an email listserv for interested researchers, and hosting the annual ASXL Research Symposium. This meeting is a critical in-person opportunity to grow the research network, share advances in research, and build collaborations between scientists. In even-numbered years, it is held in conjunction with the ASXL Family Conference and provides an opportunity for clinicians, investigators, patients, and families to meet each other. This meeting also provides an opportunity for investigators to collect samples and data from families.

Population(s) Served
Researchers

Where we work

Affiliations & memberships

Top Rated Great Non-Profits 2019

Our results

SOURCE: Self-reported by organization

How does this organization measure their results? It's a hard question but an important one.

Number of conferences held

This metric is no longer tracked.
Totals By Year
Population(s) Served

People with physical disabilities

Related Program

ASXL Family Education

Type of Metric

Output - describing our activities and reach

Direction of Success

Increasing

Context Notes

We hosted in-person conferences in 2018 and 2019. The 2020 conference was canceled due to the pandemic. We held virtual gatherings for the ASXL Family Conference and ASXL Research Symposium in 2021.

Number of Facebook followers

This metric is no longer tracked.
Totals By Year
Type of Metric

Output - describing our activities and reach

Direction of Success

Increasing

Goals & Strategy

SOURCE: Self-reported by organization

Learn about the organization's key goals, strategies, capabilities, and progress.

Charting impact

Four powerful questions that require reflection about what really matters - results.

Invest in and drive ASXL research

Improve the clinical care and management of those with ASXL syndromes

Educate, empower and connect the ASXL community of patients, families, medical professionals and researchers

Pillar 1: Invest in and drive ASXL research

Goals:
Engage and build the ASXL research community
Consistently fund promising research grants
Fund a focused portfolio of basic research and clinical research grants
Facilitate the sharing of data, resources and ideas among the ASXL research community
Encourage family participation in the ASXL Patient Registry and Biobank

Pillar 2: Improve the clinical care and management of those with ASXL syndromes

Goals:
Build the global network of clinicians and other allied health professionals who have experience treating ASXL syndromes
Develop resources with must-know information for newly diagnosed families and their care team
Develop topic-specific resources for common challenges experienced by those with an ASXL syndrome

Pillar 3: Educate, empower and connect the ASXL community of patients, families, medical professionals and researchers

Goals:
Build a diverse, supportive and inclusive community of families, medical professionals and researchers
Host regularly scheduled, topic-specific virtual education sessions for families
Provide meaningful engagement opportunities for those who wish to contribute to advancing the organization’s work

In April 2018, a group of ASXL parents and medical advisors formed the ASXL Rare Research Endowment (AЯRE) Foundation to drive research leading to the understanding and treatment of congenital ASXL syndromes. It is the only organization that supports all three ASXL Syndromes: Bohring-Opitz (ASXL1), Shashi-Pena (ASXL2), and Bainbridge-Ropers (BRS).

AЯRE has already become the voice for the ASXL community and built a strong researcher network in the US that is well positioned for growth.

Successful conferences at UCLA and the University of Michigan have ignited collaborations, professional engagement, and research proposals. Patients enrolled and provided samples for the ASXL Registry and Biobank, which is a multi-site, IRB-approved data repository that is freely accessible for researchers. Collaborations have developed with researchers outside the organization which have included developing mouse models, organoids from induced pluripotent stem cells of ASXL individuals, “omics” studies, and methylation signature patterns that will help with diagnosis and identify potential drug targets.

AЯRE has built a strong community and alliances with all three parent support groups and two other foundations who support these syndromes. Our volunteers are family members and friends of ASXL families. AЯRE has a deep understanding of the spectrum of patient needs, which are highly integrated into our agenda.

AЯRE has also achieved GuideStar Gold Status and become a Top-Rated Great Non-profit. This year AЯRE raised ~$885K for research grants and the ASXL Registry. We have a solid foundation and are in the final round for the CZI Rare as One grant.

2019 Progress:
-Raised ~$885K to support our mission and are currently in the final round for the CZI Rare as One grant
-Hosted successful conference at the University of Michigan with >20+ scientific and clinical speakers and over 30 ASXL families
-Enrolled families in the ASXL Registry and NIH FaceBase, and collected patient samples for the biobank
-Plans to fund $550K+ research grants and expand the ASXL Registry
-Authored numerous advocacy articles such as how to obtain services or a specialized bed
-Accolades: Top Rated Great Non-profit, GuideStar Gold Status, NORD member

FUTURE:
-Expand ASXL Registry abroad and offer sample kits to families
-Host scientific symposium and future conferences with ASXL specialty clinics
-Support international fund for research presentations abroad
-Provide grants for open source publishing for free flow of published information
-Deepen and expand the global research network
-Open ASXL Centers of Excellence at hub hospitals around the US and the world where specialists can see multiple ASXL patients and develop expertise

How we listen

SOURCE: Self-reported by organization

Seeking feedback from people served makes programs more responsive and effective. Here’s how this organization is listening.

done We shared information about our current feedback practices.

  • How is your organization using feedback from the people you serve?

    To make fundamental changes to our programs and/or operations, To inform the development of new programs/projects, To identify where we are less inclusive or equitable across demographic groups, To strengthen relationships with the people we serve, To understand people's needs and how we can help them achieve their goals

  • Which of the following feedback practices does your organization routinely carry out?

    We collect feedback from the people we serve at least annually, We take steps to get feedback from marginalized or under-represented people, We aim to collect feedback from as many people we serve as possible, We take steps to ensure people feel comfortable being honest with us, We look for patterns in feedback based on demographics (e.g., race, age, gender, etc.), We act on the feedback we receive, We tell the people who gave us feedback how we acted on their feedback

  • What challenges does the organization face when collecting feedback?

    It is difficult to get the people we serve to respond to requests for feedback, We don’t have the right technology to collect and aggregate feedback efficiently, The people we serve tell us they find data collection burdensome

Financials

ASXL Rare Research Endowment Foundation
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Operations

The people, governance practices, and partners that make the organization tick.

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Connect with nonprofit leaders

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  • Analyze a variety of pre-calculated financial metrics
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  • Compare nonprofit financials to similar organizations

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ASXL Rare Research Endowment Foundation

Board of directors
as of 02/14/2023
SOURCE: Self-reported by organization
Board chair

Laura Badmaev

Daniel Ordower

Michael Salad

Julie Lopez

Sankar Madhavan

Board leadership practices

SOURCE: Self-reported by organization

GuideStar worked with BoardSource, the national leader in nonprofit board leadership and governance, to create this section.

  • Board orientation and education
    Does the board conduct a formal orientation for new board members and require all board members to sign a written agreement regarding their roles, responsibilities, and expectations? No
  • CEO oversight
    Has the board conducted a formal, written assessment of the chief executive within the past year ? Yes
  • Ethics and transparency
    Have the board and senior staff reviewed the conflict-of-interest policy and completed and signed disclosure statements in the past year? Yes
  • Board composition
    Does the board ensure an inclusive board member recruitment process that results in diversity of thought and leadership? Yes
  • Board performance
    Has the board conducted a formal, written self-assessment of its performance within the past three years? No