Valuable organization created to support research and raise awareness and advocacy for SYNGAP1 patients and families opens fourth facility in the Southeast U.S.

WASHINGTON DC – 07-28-2020 ( — Bridge the Gap – SYNGAP Education and Research Foundation is excited to announce the opening of its fourth U.S. Southeast SYNGAP1 Center of Excellence. 

Bridge the Gap — SYNGAP Education and Research Foundation is the world’s leading not-for-profit SYNGAP1 patient advocacy center developed to gather critical research and establish collaborative partnerships to raise global awareness about SYNGAP1.  

SYNGAP1 – related non-syndromic intellectual disability (NSID) in humans — was first reported in 2009. It is considered one of the top single gene mutations being researched worldwide and linked to autism. In addition, a mutation in SYNGAP1 results in intellectual disabilities ranging from mild to severe. Epilepsy and a multitude of other comorbidities may occur from as attention deficit disorder to impulsivity and/or mood disorders. 

According to current research, approximately 85 percent of SYNGAP1 patients have some type of epilepsy.  It also plays an important role in brain plasticity and may represent one of the most common causes of ID worldwide.  The use of genomic sequencing has dramatically increased the capacity of physicians to identify these mutations.

Accelerated research of SYNGAP1 and helping families in need is a top priority for each Center of Excellence, which is made possible by the crucial and essential partnerships with clinical and academic institutions. To make this new partnership a reality, select institutions in Florida and North Carolina will take an integrated basic science and clinical approach to addressing GI distress in SYNGAP1 patients. Each institution will also be working collaboratively on SYNGAP1 research initiatives and will serve the SYNGAP1 patients in the Southeast Coast region of the U.S. 

These institutions include University of Miami in Coral Gables, FL, led by Julia Dallman, Ph.D., a basic scientist using an animal model to study the gut/brain axis in symptoms linked to inherited neurological disorders; Joe DiMaggio’s Children’s Hospital in Hollywood, FL, led by Dr. Andres Jimenez MD, a pediatric neurologist; and Atrium Health in Charlotte, NC, led by Dr. Baharak Moshiree MD, an adult gastroenterologist. 

Bridge the Gap – SYNGAP Education and Research Foundation will be collaborating with the USA SE SYNGAP1 Center of Excellence on the first of its kind SYNGAP1 Neuro-Gut Studies.  These studies will consist of two parts: The first will look into the integrated basic science and clinical approach to GI distress caused by SYNGAP1 mutations, and the second will consist of analysis of the gut-brain-microbiome. 

The USA Southeast SYNGAP1 Center of Excellence will be collaborating with other Centers of Excellences such as, Texas Children’s Hospital in Houston, TX; Kennedy Krieger Institute located in Baltimore, MD, and the SYNGAP1 clinic at Stanford Children’s Health on a future prospective SYNGAP1 Natural History Study.

Bridge the Gap – SYNGAP ERF will be supporting the center through grants and letters of support in preparation for pre-clinical trial design as they move forward towards finding possible treatments for patients with SYNGAP1 mutations.

About Bridge the Gap – SYNGAP Education and Research Foundation

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 priorities include raising public awareness, patient and family advocacy initiatives, educational programs, scientific research conferences and financial support for research. In addition, Bridge the Gap maintains the largest SYNGAP1 (MRD5) Registry and Natural History Study, in coordination with NORD and with grant funding provided by the FDA. The registry helps us provide the data needed to accelerate SYNGAP1 research. We have also formed strategic partnerships and collaborations with a diverse group of SYNGAP1 stakeholders to help accelerate the pace of research and maximize our impact.  

About University of Miami

The University of Miami is a private research university and academic health system with a distinct geographic capacity to connect institutions, individuals, and ideas across the hemisphere and around the world. The University’s vibrant and diverse academic community comprises 11 schools and colleges serving more than 17,000 undergraduate and graduate students in more than 180 majors and programs. Located within one of the most dynamic and multicultural cities in the world, the University is building new bridges across geographic, cultural, and intellectual borders, bringing a passion for scholarly excellence, a spirit of innovation, a respect for including and elevating diverse voices, and a commitment to tackling the challenges facing our world.

About Joe DiMaggio’s Children’s Hospital

Joe DiMaggio Children’s Hospital is one of the region’s leading pediatric hospitals, offering a comprehensive scope of healthcare services and programs in a child-friendly atmosphere. A full-service hospital, we treat minor illnesses, trauma-related accidents and some of the most complex medical conditions. Established in 1992, Joe DiMaggio Children’s Hospital combines advanced technology and the expertise of the largest, most diverse group of board-certified pediatric specialists in the region. With its summer 2011 expansion, Joe DiMaggio Children’s Hospital now has 226 beds and is South Florida’s newest freestanding children’s hospital. Since that time, the hospital has grown to a medical staff of over 600 physicians, including 90 employed pediatric specialists. Through the years, the hospital has enhanced and expanded its services and programs to help meet the growing and diverse needs of the community.

About Atrium Health

Atrium Health (formerly Carolinas HealthCare System) is one of the nation’s leading healthcare organizations, connecting patients with on-demand care, world-class specialists and the region’s largest primary care network. A recognized leader in healthcare delivery, quality and innovation, our foundation rests on providing clinically excellent and compassionate care. We’ve been serving our community since 1940, when we opened our doors as Charlotte Memorial Hospital. Since then, our network has grown to include more than 40 hospitals and 900 care locations ranging from doctors’ offices to behavioral health centers to nursing homes.  Our focus: delivering the highest quality patient care, supporting medical research and education, and joining with partners outside our walls to keep our community healthy.

More specifically, our clinics (adult and pediatric) are focused on behavioral health initiatives and Dr. Baharak Moshiree’s Adult Gastroenterology clinic sees patients with ASD and other variants and incorporates state-of-the-Art testing including various motility testing, testing for gut dysbiosis with breath testing and other research studies to better elucidate the etiology of gastrointestinal symptoms in SyNGAP1 and other such disorders.

Media Contacts:

Company Name: Bridge the Gap – SYNGAP Education and Research Foundation
Full Name: Monica Weldon
Phone: 240-347-0302
Email Address: Send Email

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