SCIENCE CLUBS INTERNATIONAL

SCI2022-1 RNA sequencing: A new diagnostic tool in the era of high throughput sequencing.

ABSTRACT MATERIALS & METHODS RESULTS CONCLUSIONS

Science Clubs International (SCI) is a network of
passionate science educators and a non-profit organization
founded in 2016. During the last few weeks, the club 1,
SCI2022-01 RNA sequencing: A new diagnostic tool in
the era of high throughput sequencing, has been reviewing
methods for the analysis of different diseases using RNA
sequencing. At the end, the students performed an analysis
of a group of data using computational strategies to solve a
clinical case.
INTRODUCTION
RNA sequencing is a technique used to analyze a great
amount information that would not be available only using
DNA sequencing. RNA sequencing was developed more
than a decade ago and since then has become a ubiquitous
tool in molecular biology that is shaping many aspects of
our understanding of genomic function. Some of the
information that can be obtained thourgh the use of RNA
sequencing is related to the expression levels of different
genes and the alternative splicing. In this work a group of
data will be analyzed to determine the gene causing a
early-onset rare disease.
The lectures were taught using Zoom app, which allows
people from all over the world to communicate. During
the lectures different strategies were used such as Excel or
documents in Google. For the development of the final
project the students were taught to use IGV which is a
software that enable the scientific community to analyze
different sources of data related to sequencing. Finally, the
language and environment for statistical computing and
graphics R was used to analyze a set of data that was given
by the instructor in order to apply the knowledge to a
clinical case. The patient with the ID “NA20505” had
developed a rare disease, so in order to determine what is
causing the disease, a sequencing was done to analyze the
genetic information. The patient suffers from myopathic
facies and cardiac arrhythmias.
The data was represented in a list and different algorithms
in R were used to sort and analyze the information.
Through teamwork we were able to decide which
variables were the most important to solve this problem.
The data was sorted taking into consideration the sample
ID of the patient because this is the information that needs
to be analyzed. With this organization only three genes
were selected to be the candidates for the gene causing the
disease. The next step was to check databases to determine
which diseases are associated to the rare disease our
patient has. With our search information about the gene
TAFAZZIN was found. This gene encodes a protein that is
expressed at high levels in cardiac and skeletal muscle.
Mutations in this gene have been associated with several
clinical disorders related to the heart. This information is
associated with the symptoms the patient had, so it is
possible to say that the gene causing the disease of the
patient “NA20505” is the gene that encodes for the protein
TAFAZZIN.
RNA sequencing is a technology that has brought a lot of
information in the recent times. There are many
applications to this technology such as the diagnosis of
several diseases. RNA gives a different type of
information that cannot be obtained through DNA
sequencing. For example, it is known that there are many
diseases caused by a wrong splicing and with the
information obtained from the RNA sequencing, the
different splicing processes can be analyzed. For this
edition of Science Clubs International the information
from RNA was analyzed to give a diagnosis of an early-
onset rare disease. With the help of many computational
tools, it was concluded that the gene causing the disease
was a gene related to cardiac and skeletal muscle,
TAFAZZIN. With this result, we can conclude that RNA
sequencing is a helpful tool to analyze new information
for several clinical cases.
REFERENCES

OBJECTIVES
• Understand the implications of RNA sequencing in the AKNOWLEDGEMENTS
diagnosis of new diseases.
• Review the different methods used to analyze the
sequences of RNA.
• Learn the context behind RNA and how it works.
• Apply the learned methods to a real clinical case.

RESEARCH POSTER PRESENTATION DESIGN ©

www.PosterPresentations.com