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Description

The purpose of this research project is to compose a comprehensive timeline on the rare disease Rett Syndrome (RTS) in order to better understand its enigmatic development as well as furthering the public’s understanding on this degenerative disease. RTS is a panethnic progressive neurodevelopmental disorder that occurs nearly exclusively in girls. This syndrome is characterized by normal prenatal and neonatal development, followed by an onset of neurological symptoms with a mental stagnation anywhere around 6-18 months of age that involves a rapid loss in speech and acquired motor skills. There is limited knowledge about the molecular cause of Rett Syndrome, however, we do know that this X-linked disease involves a mutation that occurs on one of three domains located in the Methylcytosine-binding protein 2 (MeCP2). This ultimately results in the dysfunction or a loss of function of its gene product. While the MECP2 mutation is the primary focus of this project, its exact function is not completely known, but it is speculated to be responsible for the mediation of transcriptional silencing and epigenetic regulation of genes. Presently, there are no curative treatments for RTS; however, treatment of individuals afflicted with this disorder are encouraged to seek palliative care. Due to limited public understanding on this rare disease, the objective of this project is to help shed light on RTS discovery, development, as well as provide an avenue to raise public awareness.

Publication Date

Spring 2021

Language

English

Keywords

MeCP2; Rett syndrome; X-Linked; Methylcytosine-binding protein 2

Disciplines

Medical Genetics

File Format

pdf

File Size

2732 KB

Comments

Faculty Mentor: Kathryn Rafferty, Ph.D.

Discovering Rett Syndrome (RTS) and Understanding Its Enigmatic Development


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