G1D - Glucose transporter type 1 deficiency syndrome

Research is taking place on several fronts:

a. Research on animal models of G1D

Laboratory studies focus on understanding how the brain develops and functions in G1D. This type of research is called mechanistic. Rodent and fish models with G1D were created by several researchers around 2003-2006. While these models do not replace the information that can be obtained from patients, they allow for the study of animals across their entire life cycle, while simultaneously providing a source of brain cells for detailed analysis not allowed in human subjects. Mouse models with G1D are used to characterize the basis of epilepsy in the disease by electrophysiological (electrical) recording of brain neurons by patch-clamp, a highly informative technique that measures brain cell communication, and by analyzing brain metabolism using labeled glucose probes (stable isotopes, used in 13C NMR, or nuclear magnetic resonance). As is always the case with biomedical research, it is expected that laboratory research will result in a more complete understanding of the disease and open new (and probably unexpected) directions for the development of treatments.

b. Research on G1D patients

There is reason to believe that not all forms of G1D are yet known because affected patients with nonclassical symptoms of the disease continue to be identified. New mutations in the Glut1 gene are periodically found in many laboratories around the world. It is not yet clear what happens to patients with G1D across the lifespan or how the human brain is altered by the disease. In comparison with other diseases, for which scientists have had access to numerous patients and to matched brain autopsy specimens, G1D remains a rare and understudied disease. In addition to finding new mutations, new genes and new treatments, clinical research efforts include the performance of high-field brain NMR (nuclear magnetic resonance, a special type of MRI) in patients with G1D and other neurometabolic disorders. The brain contents of several key neurochemicals important for brain cell function and communication can be measured for the first time in select patients with G1D without the use of any substances for research purposes only.

c. Research relevant to genetic brain disorders in general

There is a very significant amount of work being done worldwide on new methods for the treatment of neurometabolic and neurogenetic disorders in general, one of which is G1D. Some involve the use of stem cells, some use viruses to replace abnormal brain genes, and some focus on the discovery of new drugs that may not cure a disease but could ameliorate common and debilitative symptoms. These initiatives, when successful, can often be translated to other diseases like G1D and vice versa, allowing advances in one particular disease to potentially benefit others.

d. How can I contribute to research?

The best way to contribute is to become and remain informed about any new advances and to talk and ask questions to health care professionals. Creating or becoming part of a patient advocacy or support group for families with G1D is another important way to help disseminate information, improve patient access to experts and resources, and facilitate and fund research. Lastly, financial contributions at any level help researchers answer specific questions related to potential treatments for G1D.