“Full mutation” forms of Fragile X (FMR1) gene, comprising expansions with more than 200 non-coding CGG repeats, cause Fragile X Syndrome (FXS), the leading heritable form of cognitive impairment.
However, being a FMR1 premutation carrier (55-199 CGG repeats) might be symptomatic and may rise to a family of disorders. Indeed, it is estimated that over 20 million people worldwide carry premutation expansions of the FMR1 gene, and that over half of those individuals will experience some clinical involvement due to their premutation.
The “International conference of FMR1 premutation” has become a major interdisciplinary meeting for clinicians and basic scientists working in the challenging fields of fragile X-associated tremor/ataxia syndrome (FXTAS), fragile X-associated primary ovarian insufficiency (FXOPI), and other clinical phenotypes of the FMR1 premutation.
The 3rd International conference of FMR1 premutation will cover the entire spectrum of FMR1 premutation carriers. It is our pleasure to host this unique meeting in a beautiful and unique boutique hotel in a spectacular historical setting, the Mount Zion Hotel overlooking the biblical landscapes in the heart of Jerusalem. We feel privileged and honored that many of the world’s leading investigators in the field will actively participate in this meeting. Clinicians and researchers will focus on the state of the art in basic science and various clinical aspects as well as the latest research developments on FMR1 premutation carriers.
The concepts of RNA and RAN translation protein toxicity are emerging as possible fey cellular mechanisms for cell toxicity. The 3rd International Conference on FMR1 Premutation: Basic Mechanisms and Clinical Involvement will convene leading investigators and clinicians to present and discuss progress in our collective understanding of premutation disorders. We hope that the beautiful settings of Jerusalem will inspire new collaborations and novel research and treatment initiatives.
As the organizers of this meeting we cordially invite you to share with us days of scientific communication in the beautiful city of Jerusalem.