Reason for Hope
With rapid advances in research on fragile X syndrome and FXTAS, and parallel development of new research tools and new candidate drugs currently undergoing treatment trials, there is every reason to be optimistic about effective treatment for both disorders. In light of these new developments, Dr. Hagerman has shifted his entire research effort to the study of FXTAS and fragile X syndrome, with the principal objective of finding effective treatments based on greater knowledge of the underlying causes.
Moreover, the Hagermans and their colleagues were recently awarded the largest grant to date by the NIH for FXTAS/fragile X research. These funds will help to further accelerate the pace of research. For more on this research effort and funding, go to NTRI.
From the broader perspective of research in neurodevelopmental disorders, fragile X syndrome represents a portal of understanding to the underlying mechanisms that many developmental disorders have in common. In particular, since fragile X syndrome represents the largest known form of autism, an understanding of fragile X syndrome should shed additional light on the mechanisms giving rise to that pervasive and all-too-common behavioral disorder.
With respect to the broader field of neurodegeneration research, FXTAS is a paradigm for the study of neurodegenerative mechanisms that lead to both neurological and neuropsychiatric dysfunction, as occur in Alzheimer and Parkinson diseases. The particular advantage of studying FXTAS, beyond the development of targeted treatments for this disorder, is that the trigger for the disease process in FXTAS (FMR1 mRNA) is known (unlike the case for either AD or PD), thus facilitating the development of accurate animal and cellular models that may have broader applicability for other neurodegenerative disorders.
