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MENTORING PROGRAM:
FRAGILE X SYNDROME RESEARCH
WITH DR. TORI SCHAEFER
MOHAMED ELZARKA
INTRODUCTION
Mohamed Elzarka
1st Year Student
FRAGILE X SYNDROME
Genetic Condition
Developmental problems
including learning
disabilities and cognitive
impairment
Occurs in approximately 1
in 4,000 males and 1 in
8,000 females
Delayed development of
speech and language
Mild to moderate intellectual
disability
Anxiety, hyperactive
behavior, attention deficits
Seizures occur in some
patients
(National Library of Medicine, 2015)
FRAGILE X SYNDROME
Pathophysiology:
Mutation on FMR1 gene
Decreased Fragile X mental
retardation 1 protein (FMRP)
Plays a role in the
regulation of the
development of synapses
Hyperactivity, seizures
Research is labor-intensive
Committing time and effort to research endeavors is
paramount to achieving success
To be a good researcher, you need to understand the
underlying principles behind what you do
It is not enough to just do the tasks; you have to know why
you are doing what you are doing in the first place
Protocols do not always work the first time
The concept of trial and error is a focal point of any good
scientists repertoire
Being in a lab is a lot different than being in a classroom
Earning good grades and understanding concepts from
the classroom can only translate so much into the kind of
knowledge and skill that is needed in a fast-paced lab