Bridge the Gap – SYNGAP – Education and Research Foundation

ABOUT US

Bridge the Gap – SYNGAP Education and Research Foundation (501(c) 3) is a non-profit organization whose mission is to serve, educate and fund research for families coping with the effects of SYNGAP1 mutations. The leading organization advocating and raising funds for research and treatments for SYNGAP1. Our international outreach for SYNGAP1 children gathers critical information, which is needed to drive research towards more immediate therapeutic solutions. Bridge the Gap-SYNGAP mission is to improve the quality of life for people affected by SYNGAP1, provide family support, accelerating research and raising awareness so that every family and every child with SYNGAP1 can provide information that can guide us to a cure.

OUR HISTORY

In 2014, Monica Weldon became the Founder, President and Chief Executive Officer of Bridge the Gap – SYNGAP Education and Research Foundation. The foundation was established soon after Monica’s son Beckett was diagnosed with an SYNGAP1 mutation in 2012. He was the first child identified at Texas Children’s Hospital Genetics Clinic and was one of 6 individuals in North America identified at the time. 

Since its inception in September of 2014, the organization has grown rapidly because of the tireless efforts of the volunteer board of trustees and parents. In May of 2015, the foundation and scientific advisory board published the first combined descriptive summary of SYNGAP1 mutations published by the National Organization of Rare Disease.

Bridge the Gap – SYNGAP ERF is also partnering with several on-going research studies across the globe that
are aimed at understanding epilepsies and autism spectrum disorders. We have two current studies focused specifically on epilepsies. The first being The Rare Epilepsy Network (REN) which is a collaboration between the Epilepsy Foundation, RTI International, Columbia University and many other different organizations that represent patients with a rare syndrome or disorder that is associated with epilepsy or seizures. The REN will establish a registry of these patients which includes patient or caregiver-reported data in order to conduct patient-centered research. The second is a study being conducted by the University of Melbourne in Australia directed by Dr. Ingrid Sheffield. This research will assist us to understand the nature of SYNGAP1 disorders and epilepsy and other disorders associated with them. The hope is that the information collected will help families and their doctors to diagnose this condition, identify the seizure types and associated disorders, and select appropriate medication. 

Our patient group is participating in an autism study with Simons VIP Connect. The research study is aimed to better understand the medical, learning and behavioral features of individuals with genetic changes associated with features of autism, developmental delays, and other neurodevelopmental concerns (like seizures). They identify the needs of the families while providing support through education, access to experts, and by connecting with other families.

In April 2016, the foundation was awarded by the National Organization of Rare Disease and the US Food and Drug Administration, the first and largest Natural History Study and Registry for SYNGAP1 (MRD5). This is a five-year project that will produce specific data about SYNGAP1 mutations and shared with researchers who study SYNGAP1 to find better treatments. Monica Weldon is the primary investigator on the project that includes 7 physicians and 3 Bridge the Gap – SYNGAP ERF charter members.

The organization has consistently and specifically worked to further education and research efforts to battle the effects of the Syngap1 gene mutation.

OUR PROGRAMS

SYNGAP1 (MRD5) Natural History Study Registry

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. A critical amount of clinical information is needed to understand what is causing any disease and the purpose of registries are to capture information from each patient that may shed light on understanding how to pursue treatments. Since SYNGAP is rare, there are so few patients, it is critical that every patient is registered. This information will bring together information in order to understand the diversity of the disease. 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). https://syngap1registry.iamrare.org/
Other registry objectives include the following:
● Provide a convenient online platform for participants (or caregivers) to self-report cases of SYNGAP1 (MRD5).
● Develop a communications registry within the SYNGAP1 (MRD5) Natural History Study Registry (e.g., to notify patients of research studies and clinical trials).
● Characterize and describe the SYNGAP1 (MRD5) population as a whole, enhancing the understanding of disease prevalence and spectrum of the phenotype as well as the rate of progression of disease characteristics.
● Assist the SYNGAP1 (MRD5) community with the development of clinical guidelines and standards of care.
● Be a resource for researchers who seek to study the pathophysiology of SYNGAP1 (MRD5), retrospectively collate intervention outcomes, and design prospective trials of novel treatments.

International SYNGAP1 Conference

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.
The SYNGAP1 International Stakeholder Conferences bring together Patient Families, Researchers, and Clinicians.
There are several goals for this meeting:
(1) To bring together internationally-recognized basic scientists and clinicians interested in the function of SYNGAP1
protein, the disease substrates underlying the disorder, and developing novel therapies for rare genetic disorders.
(2) To further the understanding of SYNGAP1 in normal brain function and to develop a consensus on the most effective avenues toward novel treatments.
(3) To expand the SYNGAP1 research and clinical community, including the introduction of junior scientists and clinicians, postdoctoral and clinical fellows and graduate students to the importance of studying this and related rare diseases.
(4) To grow the emerging international SYNGAP1 research and clinical network in an effort to foster fully collaborative multi-laboratory basic research, to enhance participation in the already-existing MRD5 patient registry, and to catalyze a natural history study in order to advance patient care and treatment.

SYNGAP1 Family Meetups

Our primary objective is to empower the patient and stress the importance
of their involvement in driving research. With this goal in mind, we believe
that having all the stakeholders in conversation will communicate the
importance of patient advocacy and their role in accelerating ongoing
research and get to treatments faster.
Our goals are to provide support, education, and resources. Foundation representatives will provide up to date research information and present current findings on data collected from the SYNGAP1 Registry and Natural History Study. This will also afford better communication and patient engagement in the ongoing research driven by the foundation registry charter. Clinicians and scientists will be presenting information on current research and be available to answer questions in an open forum. This will also give families an opportunity to ask questions and get clarification from the experts. The education the families will take away from the meeting is intended to reach treating clinicians of SYNGAP1 patients and give families and caregivers a secure knowledge base of the disease and how to best approach available treatments. SYNGAP1 Family Meet Ups – Our goal is to 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.

SYNGAP 1 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. We will work in the next five years to
obtain two additional Centers of Excellence, one on the West Coast of the United States and another in Europe to serve
and support our International families abroad.
The purpose of the SYNGAP1 COE Program is to:
● Provide superior neurological care to patients in the specific regions of the US and allow better access for patients
with SYNGAP1 mutations to get expert care.
● Encourage multidisciplinary collaboration between departments, including Psychiatry, Neurology, Developmental
Pediatrics, Pediatrics, Occupational Therapy, Physical Therapy, and Physical Medicine.
● Provide opportunities to integrate clinical care with teaching and research.
● Engage in clinical research to determine which treatment modalities yield the best results.
Benefits of the SYNGAP1 COE Program shall produce the following benefits for the Participating Medical Centers:
● An interdisciplinary approach to the diagnosis and treatment of the neurological problems caused by SYNGAP1
mutations.
● An efficient system for the treatment of patients dependent upon their symptoms and conditions
● The provision of both surgical and nonsurgical solutions to patients’ problems
● The objective assessment of different treatment modalities to determine their benefits
● Efficient use of resources
● More convenient to accommodate patients involved in clinical trials or pilot programs

Participating Centers:

Texas Children’s Hospital/Baylor College of Medicine
Jimmy Holder; MD, PhD
Blue Bird Clinic of Neurology
Texas Children’s Hospital – Clinical Care Center
Address: 6701 Fannin St, Houston, TX 77030
Phone: +1 (832) 822-0996
For More information Contact Truzella Benton

John’s Hopkins University/Kennedy Krieger Institute
SYNGAP1 Clinic
Mike Johnston, MD
S. Ali Fatemi, MD, MBA
Constance Smith-Hicks, MD, PhD
707 N Broadway
Baltimore, MD 21205
Local: +1 (443)923-9400

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