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BIOMEDICAL RESEARCH AND

MENTORING PROGRAM:
FRAGILE X SYNDROME RESEARCH
WITH DR. TORI SCHAEFER
MOHAMED ELZARKA

INTRODUCTION
Mohamed Elzarka
1st Year Student

BS, Neurobiology & BA, Liberal Arts (Pre-Medicine)

Dr. Tori Schaefer


Director, Developmental Disabilities Translational Research Lab

Focus on developing new targeted drug treatments in


developmental disabilities
Angelman Syndrome, Fragile X Syndrome, and Autism
Test the effectiveness of new compounds and repurposed drugs
for the treatment of behavior, molecular, and cellular abnormalities
associated with these disorders in the mouse model

FRAGILE X SYNDROME

Prominent features include:


long and narrow face
large ears
prominent jaw and forehead
unusually flexible fingers, flat
feet

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

Lessened neural pruning

Loss of FMRP alters


excitatory/inhibitory
signaling balance in brain

Hyperactivity, seizures

Excitation and Inhibition


Glutamate (Excitatory)
GABA (Inhibitory)

Benzodiazepines can upregulate


binding of GABA to receptor
Causes increased inhibition
Reduces symptoms
Using drug to increase selective
GABA binding to receptor to
counterbalance excitatory activity
(National Library of Medicine, 2015)

WHAT?: What have you learned about the research process?

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

SO WHAT?: Why does what you have learned matter?


Being a clinician and a scientist is not as easy as it sounds
Because research is labor intensive, time is a large constraint on what you
can accomplish
The way the mind of a physician works is a very different than how the
mind of a researcher works

Approach the same problem from different angles

If I am looking towards a combined MD/PhD Program, I must do so with


the knowledge that it will present an exceptional challenge not only in the
amount of work needed, but also in the variability of thinking styles that I
will have to employ
Patience is not a virtue, it is a must
While a physician can pride themselves on doing a little bit of good each
day, a researcher often finds success only after months of hard and
diligent labor

A researcher could theoretically spend their whole life discovering numerous


ways of how not to do something or elucidating many means by which a
process does not occur
Not only is day to day patience in the lab important, but so is long-term
patience

Brings into contention the question of smaller, instant rewards or the


possibility of immense long-term success

SO WHAT?: Why does what you have learned matter?

Studying is good, but so are learning how to think


critically and spontaneously and having the technical
skills to put your learning into action
It is great to know how things workalmost a necessary
step to progressing research forward
It is probably more important to realize that just knowing
how things work wont make them work when you want
them to

You need technical skills, diligence and attention to detail


My involvement in the laboratory has taught me to be
meticulous in my work, to observe and analyze critically at
every moment, and to make sure that what I am doing is
grounded in hard science

The technical skills that I have learned (animal drug


administration, cell slicing, microscopy, etc.) have enabled
me to bring the things I read in the literature into reality

NOW WHAT?: What are the next steps to take?


Technical skills are basic requirement for moving forward
in research career
Provide gateway into learning more advanced skills
Set up success in more accurately generating data to
produce better results better development of
understanding
Find the gap
Read the literature.
Develop and conduct experimentation.
Analyze results and publish findings.
Repeat.
Understanding the different mindsets with which
researchers and physicians approach medicine, where do I
see myself in 20 years?
Continue researching, develop more technical skills, work
on integrating clinical and research interests

MANY THANKS TO THE LAB TEAM AND TO DR.


SCHAEFER FOR PROVIDING AN ENRICHING AND
REWARDING LEARNING EXPERIENCE THIS SEMESTER