Biochemical Breakthrough - Fragile X Syndrome
Doctor Gul Dolen discusses the significance of finding a potential biochemical treatment for the neurological disorder, Fragile X syndrome.
Itâ€™s really a new thing in neuroscience. Neuroscience is obviously developing and I would say that our discovery is one of the first times that weâ€™ve been able to treat a disease by understanding what causes the disease. Most psychiatric therapies in existence today were discovered somewhat accidentally. Here is a case where we decided to study Fragile X syndrome with a very specific theory in mind. We said we believe plasticity is disrupted, we predict that it will be disrupted and we predict that this abnormality in this one type of receptor is whatâ€™s causing all of the problems. We were able to make correlations between features of the disease, symptoms of the disease and predictions of what metabotropic glutamate receptors do and draw those parallels. By doing that we had a very strong hypothesis about what would happen when we treated the Fragile X knockout mice by reducing their metabotropic glutamate receptor signaling. So, itâ€™s a therapy that is rooted in an understanding of the mechanisms of neuronal plasticity, and thatâ€™s really a first.
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Doctor Gul Dolen discusses how new biochemical treatments for Fragile X Syndrome may be used to treat autism.
Doctor Gul Dolen explains that Fragile X syndrome can be considered a disorder of plasticity, mediated by metabotropic glutamate (mGlu) receptors, and potentially treatable with pharmaceuticals.
Doctor Gul Dolen explains that there are many single-gene disorders on the autism spectrum, which may or may not respond to mGluR-related treatment.
Doctor Gul Dolen defines synapse-opathies as disease where the synapse is the part of the brain that is disrupted. Fragile X and autism are examples.
Mental retardation: struggle, stigma, science.
Doctor Gul Dolen describes the key characteristics of Fragile X syndrome, which can include problems with language, mental retardation, and symptoms of autism.
Doctor Gul Dolen explains that Fragile X syndrome is not a mendelian disorder, because the inheritance pattern in slightly different.
Exploring the possiblities of 'bringing back' the brain of a child with autism.
Research continues to show that stem cells could be harnessed for therapeutic purposes.
The FMR1 gene produces a protein involved in making cellular connections in the brain.