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
Stanford Children's Health
University of Melbourne & Florey Institute
Laureate Professor Ingrid Scheffer AO FAA
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
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
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.
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.
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.
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.