Bridge the Gap – SYNGAP – Education and Research Foundation

SYNGAP1 Clinical Experts

Our SYNGAP1 Clinical Research Experts care for our SYNGAP1 Patients and perform all levels of work in biomedical research.  The aim of our clinicians is to find the best path forward to improving the quality of life while searching for better treatments.  They work closely with our organization’s SYNGAP1 (MRD5) Registry and Natural History Charter and Board of Trustees.  One of their priorities is to stay up to date on the current research and listen to feedback from families to also determine the best treatment options available.

Our SYNGAP1 Clinicians

Texas Children's Hospital/Baylor College of Medicine SYNGAP1 Center of Excellence

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) 822-1750 Option #2
For More information Contact Truzella Benton

John’s Hopkins University/Kennedy Krieger Institute SYNGAP1 Center of Excellence

Constance Smith-Hicks, MD, PhD
707 N Broadway
Baltimore, MD 21205
Local: +1 (443) 923-9400

Stanford Children's Health

Maura Ruzhnikov, MD
Clinical Assistant Professor
730 Welch Rd
2nd Floor
Palo Alto, CA 94304
Phone: 605-723-0993
Fax: 650-721-6350

Stanford Children's Health

Elli Brimble MSc, MS, CGC
Genetic Counselor
730 Welch Rd
2nd Floor
Palo Alto, CA 94304
Phone: 605-723-0993
Fax: 650-721-6350

University of Melbourne & Florey Institute

Laureate Professor Ingrid Scheffer AO FAA FAHMS

Paediatric neurologist and professor at the University of Melbourn

Austin Health and The Royal Children’s Hospital, Melbourne 
245 Burgundy St, Heidelberg VIC 3084, Australia
Phone: +61 3 9035 73447

CENTRE DE RECHERCHE du CHU Sainte-Justine

Dr. Jacques Michaud
Director of Research
jacques.michaud@recherche-ste-justine.qc.ca
514 345-4931 poste 5777

The Patrick Wild Centre – Edinburgh University

Dr. Andrew Stanfield
Hugh Robson Building, George Square

Edinburgh EH8 9XD, United Kingdom
+44 131 537 6275

Sheffield Children's NHS Foundation Trust

Dr. Michael Parker
Western Bank Sheffield
S10 2TH
United Kingdom
0114 271 7000

SYNGAP1 Treatment Guidelines

Get Involved With The Research, You Are Key To Getting To Treatments Faster

What You Need to Know About Your Appointment

For the clinician to better understand the medical needs of your loved one please bring the following with you to your appointment if available.

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A list of your medicines

Medication history is critical when treating the symptoms related to SYNGAP1.  Especially if the patient presents with epilepsy. 

As many as two out of three patients treated for epilepsy experience refractory seizures, which are either not responsive to therapy or for which the seizures or side effects from treatment are troublesome enough to interfere with their quality of life.

In some cases, an individual’s epilepsy may become resistant to their existing medications, causing seizures to occur despite the proper medication being taken. In other cases, the therapy may be effective at preventing seizures but may cause such disruption or damage to the quality of life that compliance with treatment becomes especially difficult.  For more information on Refractory Epilepsy Click Here.

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Family Medical History

Families have many factors in common, including their genes, environment, and lifestyle. Together, these factors can give clues to medical conditions that may run in a family. By noticing patterns of disorders among relatives, healthcare professionals can determine whether an individual, other family members, or future generations may be at an increased risk of developing a particular condition. To learn more about why family medical history is important Click Here.

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Your Medical History

Your medical history is extremely important when it comes to searching for treatments, especially for rare diseases.  SYNGAP1 is a newly discovered ultra-rare disorder and the more historical information provided the better picture clinicians and researchers have of the disease as it progresses. We call the natural progression of a disease it’s Natural History.  Natural Histories are used to help pinpoint measurable endpoints and biomarkers for clinical trial studies.  

“The clinicians at all our SYNGAP1 clinics are absolutely phenomenal.  They listen and care about finding treatments for our SYNGAP1 Patients!”

Jojo DeBord

SYNGAP1 Parent

Finding Treatments is Our Mission

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