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RETT SYNDROME INITIATIVE

JAN-Feb 2023

The Rett Syndrome Initiative is our second official topic of interest for the 2-2022-2023 academic term. Similar to the PANS initiative, ASH aims to spread awareness about Rett Syndrome to th public.

FEBRUARY 2022 - Introduced GBS Initiative

SEPTEMBER 2022 - Info Session and Term 1 Recap

JULY 2021 - Introduced Cystinosis Initiative

MARCH 2022 - ASH Blog Official Launch

JULY 2021 - Introduced Cystinosis Initiative

MARCH 2022 - ASH GBS Series Podcast Official Launch

JULY 2021 - Introduced Cystinosis Initiative

APRIL 2022 - GBS Case Competition 

What is Rett Syndrome?

Rett syndrome is a rare genetic and neurologic condition where the MECP2 gene on the X chromosome is mutated. The mutation impacts brain development, causing affected individuals to lose motor skills, speech ability and other mental and physical abilities. The condition is more prevalent in females than males as the trait is X-linked; affected males usually do not survive as they only have one X chromosome. Some symptoms include worsening in breathing, seizures, irritability, scoliosis, and the weakening of the muscles to a point where one can not walk. Common diagnostic methods include CT scans and MRIs to observe brain development, and blood work for genetic testing to check for any mutations in the MECP2 gene. While currently there are no treatment methods, medications and medical devices can be used to alleviate some symtoms.

Why We chose RETT Syndrome?

AdvoSci Health chose RETT syndrome as there second initiative for this academic year due to its severity in pathology. It follows ASH's theme of exploring neurodegenerative rare diseases, following GBS and PANS.  As mentioned previously, RETT syndrome  primarily occurs in females. In fact 1 in 10000 girls are infected by the disease after 12 years of age in the United States. As males only have one X chromosome and the disease shows great severity, there is no compensation of the mutated trait, which further leads to lower rates of survival.

Some More Readings

Finding a Drug to Cure RETT Syndrome

Does the Brain Shrink with RETT Syndrome?

More About RETT Syndrome

Neuropathology of RETT Syndrome

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