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Interpretação de texto | Reading comprehensionFAME · 2025DifícilEntre para guardar nos favoritos
INSTRUCTION: Read the following text to answer the questions.
What is fatal familial insomnia?
In the mid‑1980s, a family with a mysterious problem lived
in a small town in Italy. For many years, members of this
family had trouble sleeping, but no one knew why. One day,
a family member named Silvano decided to find out what
was causing this strange problem. Silvano traveled to the
city of Bologna to meet with the best sleep doctors. He told
them all about his family’s mystery.
The doctors were intrigued by Silvano’s story and
immediately began to study his case. After much research,
the doctors discovered something never seen before:
a tiny change in a special gene passed down from
generation to generation in Silvano’s family, which stopped
them from sleeping. They called this disease fatal familial
insomnia (FFI).
Fatal familial insomnia is an extremely rare disease.
Like many other rare diseases, FFI is passed on through
the DNA from parents to their children. The symptoms
of FFI start slowly and get worse over time. People with
FFI start to have difficulty falling and / or staying asleep,
and then, as it gets worse, they may suddenly fall
asleep without warning. People with FFI also tend to
develop other problems like a fast heartbeat; high blood
pressure; hormonal, mood and behavior swings; anxiety;
excessive sweating; and trouble thinking clearly and
moving their bodies. The symptoms usually start between
the ages of 51 and 60, although rarely they can start as
early as 18 – 20 years old. FFI affects both men and
women equally. To date, more than 70 families around the
world have been found to have FFI.
[...]
Although there is still no cure for FFI, research is
happening all over the world. Researchers are working to
find new pieces to help them solve the complex puzzle of
FFI and to develop treatments that can improve the lives
of those affected. Ongoing research aims to understand
the underlying mechanisms of FFI, especially how genetic
mutations change healthy prion proteins into abnormal
ones and how the buildup of abnormal prions in the brain
causes FFI symptoms. This understanding is essential for
developing effective therapies.
Additionally, researchers are searching for biomarkers of
FFI. Biomarkers are things that can be measured through
blood tests or brain scans, for example, that indicate
the presence of a disease or the risk of developing it.
Biomarkers could help doctors to diagnose FFI earlier and
to track how it changes over time.
In terms of developing therapies for FFI, gene therapy is
a promising approach that aims to fix or replace defective
genes. Gene therapy could eventually improve patients’
quality of life. Researchers are also studying drugs that
might stop or slow down the buildup of PrPSc in the brain.
New drugs are first tested on animals to see if they work
and are safe, and drugs that pass these initial tests are
then tested on people. With effective new medicines,
it might be possible to slow down or even stop FFI.
Available at: https://kids.frontiersin.org/articles/10.3389/frym.2025.1523273. Accessed on: Aug 4th, 2025. [Adapted]
According to the text, what is the main goal of the current
research on FFI?