SYNGAP1 (MRD5) Natural History Study Registry
● 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
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
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.
SYNGAP 1 Centers of Excellence
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.
● 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
● 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
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
Mike Johnston, MD
S. Ali Fatemi, MD, MBA
Constance Smith-Hicks, MD, PhD
707 N Broadway
Baltimore, MD 21205
Local: +1 (443)923-9400