Bridge the Gap - SYNGAP Education & Research Foundation
Syngap1 Foundation
Programs and results
What we aim to solve
We are working on patient engagement and implementing sound communication strategies to encourage personal involvement in our research programs. We would like to continue to broaden our research scope by building research partnerships and capacity that are patient-centered.
Our programs
What are the organization's current programs, how do they measure success, and who do the programs serve?
International SYNGAP1 Conference
The SYNGAP1 International Conference brings together stakeholders that include Patient Families, Researchers, and Clinicians. One of the primary goals is to maximize scientific resources by building collaborative approaches that are efficient and synergistic. Our scientific conferences will focus on bringing the world experts together to strategize how to move forward with research targeting therapeutic solutions for patients with SYNGAP1 Syndrome.
SYNGAP1 (MRD5) Registry and NHS
The primary aim of the SYNGAP1 (MRD5) Natural History Study Registry is to conduct a prospectively-planned and efficient natural history study that will result in the most comprehensive understanding of the disease and its course and pace over time. This program is made possible with the help and partnership of the National Organization of Rare Disease (NORD) and the US Federal Drug Administration (FDA).
SYNGAP1 Education Family Meet - Ups
The SYNGAP1 Family Meet Ups will bring families impacted by SYNGAP1 mutations together. These meetings provide opportunities for new and familiar faces to come together to share experiences, learn from each other and experts in the disease, and offer one another support and hope. Our aim is to empower the patient families with a strong and knowledgeable community of SYNGAP1 advocates. Clinicians and Scientists will be presenting information on current research and be available to answer questions in an open forum.
SYNGAP1 Centers of Excellence
Our participating Institutes offer a comprehensive set of services: Not just core services, but advanced services and supporting services specifically geared to treating patients with SYNGAP1 Syndrome. The range of services often spans the entire continuum of care, not merely the acute care procedure. We currently are working with Texas Children's Hospital and Johns Hopkins to be our first SYNGAP1 Centers of Excellence.
SYNGAP1 Family Advisory Council
Family Advisory Counsil works to establish a solid line of communication between the foundation and families allowing information sharing that fosters support of patients, families, as well as foundation initiatives.
Goals
Identify and welcome new syngap families.
Provide key tools and resources to families that are easy to understand
Unify families - events, newsletters, webinars, local meetups
Motivate engagement and participation of families in foundation initiatives
Where we work
Awards
Advocacy Award 2015
Global Genes
External reviews
Photos
Videos
Our results
How does this organization measure their results? It's a hard question but an important one.
Number of participants attending course/session/workshop
This metric is no longer tracked.Totals By Year
Population(s) Served
Caregivers, Families, Non-adult children, Parents, Health
Related Program
SYNGAP1 Education Family Meet - Ups
Type of Metric
Input - describing resources we use
Direction of Success
Increasing
Context Notes
Our Syngap1 Registry is composed of our SYNGAP1 caregiver population that is adding valuable data to our registry. We use the number of participants and the surveys they answer for patient engagement
Number of industry standards/practices developed by nonprofit
This metric is no longer tracked.Totals By Year
Population(s) Served
Adults, Family relationships, Ethnic and racial groups, Children and youth, Health
Related Program
SYNGAP1 Centers of Excellence
Type of Metric
Output - describing our activities and reach
Direction of Success
Increasing
Context Notes
We developed policies to engage with industry partners that include pharmaceutical companies, our stance on CBD and FDA engagement. We also implemented a comprehensive conflict of interest policy.
Number of groups/individuals benefiting from tools/resources/education materials provided
This metric is no longer tracked.Totals By Year
Population(s) Served
Adults
Related Program
SYNGAP1 Education Family Meet - Ups
Type of Metric
Output - describing our activities and reach
Direction of Success
Increasing
Context Notes
We provide valuable educational resources to both our patient community and general public. We do this through social media, exhibits, and through our awareness program.
Number of press articles published
This metric is no longer tracked.Totals By Year
Population(s) Served
Adults, Family relationships, Health
Related Program
SYNGAP1 Centers of Excellence
Type of Metric
Outcome - describing the effects on people or issues
Direction of Success
Increasing
Context Notes
The number of our activities that have reached the general public. These include scientific discoveries and large seed grants that announcements awarded to our CEO.
Our Sustainable Development Goals
Learn more about Sustainable Development Goals.
Goals & Strategy
Learn about the organization's key goals, strategies, capabilities, and progress.
Charting impact
Four powerful questions that require reflection about what really matters - results.
What is the organization aiming to accomplish?
Striving for Excellence
Our desired impact is to raise awareness of SYNGAP1 (MRD5), unite patient families while building a robust data registry and providing meaningful information to researchers. Second, our goal is to create a standard of care and SYNGAP1 disease profile. This will educate researchers and medical professionals in hopes of improving time to early diagnosis. It is crucial that early diagnosis is made as we have seen that early therapy can be incredibly valuable to the development of our SYNGAP1 patient community. Lastly, we aim to educate families and clinicians with data collected from our SYNGAP1 (MRD5) Registry and Natural History study to create customized treatment plans that can result in the best outcomes for progress made by each patient. With guidance from our scientific advisory board, it is also our goal to shape our programs that will benefit and accelerate the science to treatments for SYNGAP1.
More specifically, maximizing scientific resources and coordinate efforts to reach communities of SYNGAP1 patients and find ways to reach the undiagnosed, including the Autism and Epilepsy community. Our international outreach for SYNGAP1 children will come from the critical amount of information needed to drive finding more immediate therapeutic solutions for our children. The mission of Bridge the Gap – SYNGAP Education and Research Foundation is to serve, educate and fund research for families coping with the effects of SYNGAP mutations in order to find therapeutic solutions for our children that will enable them to live to their fullest potential. Our goals are to:
• Raise awareness of SYNGAP and unite SYNGAP patient families.
• Educate researchers/medical professionals to improve time to early diagnosis and identification of potential treatments that will help our children now. It has been incredibly important to work closely with our clinicians and scientific researchers, building a bond of trust and openness with a common goal of finding ways to provide quality of life to our children.
• Create a behavior/medical profile to accelerate the identification of other SYNGAP patients. It is crucial that early diagnosis is made as we have seen that early therapy can be incredibly valuable to the development and reaching the maximum potential of our special children.
• Create customized treatment plans that can result in the best outcomes for progress made by each child.
What are the organization's key strategies for making this happen?
One of the primary goals is to maximize scientific resources by building collaborative approaches that are efficient and synergistic. The special opportunity of the scientific community to talk first hand with patient families can bring insights not normally available to guide research efforts. Leveraging access to all communities of SYNGAP1 patients, including the Autism and Epilepsy community can enable identification of other undiagnosed or misdiagnosed children. The presentations will focus on topics related to SYNGAP1 biology and translation to clinical application. Experts will lead discussions on current and future avenues of research, exchanges ideas and available research tools to share. Topics will include natural history studies, clinical trial design and therapeutic targets for identification in model systems. Participants will gain valuable knowledge to find faster pathways to therapies from theory to practice in an environment that fosters and facilitates collaboration and open data sharing.
What are the organization's capabilities for doing this?
We have the largest SYNGAP1 database in the world provided by NORD/FDA to collect and store needed information. Our goal is to capture the diversity of the SYNGAP children and identify relevant clinical endpoints for potential trials..
By uniting the patient community we not only learn from each other but also make connections with clinicians and researchers to help us help our children. Early on we exchanged ideas and let our physicians know what other physicians are trying, what has worked and what hasn't worked
What have they accomplished so far and what's next?
We have been extremely successful in uniting the SYNGAP1 community and have grown the community from 3 to 180+ families in over three years. New individuals are being identified on average 2 per month worldwide as genetic testing becomes more prevalent. Our families include 19 families from the US and International families include; 9- in Australia, 15-Netherlands, 5- England, Germany, Holland, Switzerland, France, Spain, Brazil, Ireland, Canada, and Norway.
We have the goal of registering 200 families before 2020 with completed survey set in our NORD/FDA Natural History Study and Registry.
How we listen
Seeking feedback from people served makes programs more responsive and effective. Here’s how this organization is listening.
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How is your organization using feedback from the people you serve?
To identify and remedy poor client service experiences, To identify bright spots and enhance positive service experiences, 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
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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 look for patterns in feedback based on people’s interactions with us (e.g., site, frequency of service, etc.), We engage the people who provide feedback in looking for ways we can improve in response, We act on the feedback we receive, We tell the people who gave us feedback how we acted on their feedback, We ask the people who gave us feedback how well they think we responded
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What challenges does the organization face when collecting feedback?
It is difficult to get the people we serve to respond to requests for feedback, The people we serve tell us they find data collection burdensome, It is difficult to find the ongoing funding to support feedback collection, Staff find it hard to prioritize feedback collection and review due to lack of time, It is difficult to get honest feedback from the people we serve, It is difficult to identify actionable feedback
Financials
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Operations
The people, governance practices, and partners that make the organization tick.
Connect with nonprofit leaders
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- Analyze a variety of pre-calculated financial metrics
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Connect with nonprofit leaders
SubscribeBuild relationships with key people who manage and lead nonprofit organizations with GuideStar Pro. Try a low commitment monthly plan today.
- Analyze a variety of pre-calculated financial metrics
- Access beautifully interactive analysis and comparison tools
- Compare nonprofit financials to similar organizations
Want to see how you can enhance your nonprofit research and unlock more insights? Learn More about GuideStar Pro.
Bridge the Gap - SYNGAP Education & Research Foundation
Board of directorsas of 08/09/2021
Charles Bergamo, J.D., ChFC®, CLU®, ChSNC®
Northwestern Mutual
Term: 2019 -
Katy Kennedy
Aragon Middle School
Jimmy Holder
Texas Children's Blue Bird Clinic
Jacques Michaud
CHU Sainte-Justine Research Centre
Seth Grant
University of Edinburgh
Micheal Parker
Sheffield Children’s Hospitals Trust
Andrew Stanfield
Patrick Wild Centre
Jaime Robertson
Eaisi
Candice Taylor
Mary Cobb
PatientVue, LLC
Melanie Battye
Lockheed Martin
Victoria Buchanan RN
PULSE + PlusTM
Deborah Walter
GE Health
Nathan Foreman
Rehab Metrics
Dr. Mary Kennedy
Cal Tech
Dr. Ward Walkup
Casma Therapeutics
Monica Dudley Weldon
President/CEO
Board leadership practices
GuideStar worked with BoardSource, the national leader in nonprofit board leadership and governance, to create this section.
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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? Yes -
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? Yes
Organizational demographics
Who works and leads organizations that serve our diverse communities? Candid partnered with CHANGE Philanthropy on this demographic section.
Leadership
The organization's leader identifies as:
Race & ethnicity
Gender identity
Transgender Identity
Sexual orientation
Disability
We do not display disability information for organizations with fewer than 15 staff.
Equity strategies
Last updated: 08/08/2021GuideStar partnered with Equity in the Center - an organization that works to shift mindsets, practices, and systems to increase racial equity - to create this section. Learn more
- We review compensation data across the organization (and by staff levels) to identify disparities by race.
- We ask team members to identify racial disparities in their programs and / or portfolios.
- We analyze disaggregated data and root causes of race disparities that impact the organization's programs, portfolios, and the populations served.
- We disaggregate data to adjust programming goals to keep pace with changing needs of the communities we support.
- We employ non-traditional ways of gathering feedback on programs and trainings, which may include interviews, roundtables, and external reviews with/by community stakeholders.
- We disaggregate data by demographics, including race, in every policy and program measured.
- We have long-term strategic plans and measurable goals for creating a culture such that one’s race identity has no influence on how they fare within the organization.
- We use a vetting process to identify vendors and partners that share our commitment to race equity.
- We have a promotion process that anticipates and mitigates implicit and explicit biases about people of color serving in leadership positions.
- We seek individuals from various race backgrounds for board and executive director/CEO positions within our organization.
- We have community representation at the board level, either on the board itself or through a community advisory board.
- We help senior leadership understand how to be inclusive leaders with learning approaches that emphasize reflection, iteration, and adaptability.
- We measure and then disaggregate job satisfaction and retention data by race, function, level, and/or team.
- We engage everyone, from the board to staff levels of the organization, in race equity work and ensure that individuals understand their roles in creating culture such that one’s race identity has no influence on how they fare within the organization.