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Marking World Fragile X Day: hundreds of monuments illuminated around the world

Fragile X syndrome is the most common inherited cause of autism and intellectual disabilities worldwide

Fragile X

The second World Fragile X Day takes place today, with the celebrations including the illumination of 355 monuments and landmarks across the world.

Launched in 2021 by the FRAXA Research Foundation, the day is intended to celebrate families impacted by fragile X syndrome (FXS) and highlights advances in research to find effective treatments and ultimately a cure.

FXS is the most common inherited cause of autism and intellectual disabilities worldwide and at present there is no cure. It affects one in 4,000 boys and one in 8,000 girls worldwide.

FXS occurs when a single gene on the X chromosome, which makes a protein needed for normal brain development, shuts down. In FXS, the protein is not made and the brain does not develop as it should.

Although both sexes are affected by FXS, females generally have milder symptoms, although there is a lot of variation. While most males have intellectual impairment, only one-third of females have significant intellectual challenges.

In its first year, the organisation lit up approximately 300 landmarks around the world. This year, it plans to reach the same number internationally, as well as lighting up landmarks in 46 US states.

Patients, caregivers, family members and advocates are encouraged to get involved by talking to doctors about their experiences with the disease, helping families navigate a new diagnosis and writing to local and national representatives to increase research funding for FXS.

In November 2021, AI-powered and patient-inspired technology company Healx received Investigational New Drug (IND) approval from the US Food and Drug Administration (FDA) for the phase 2a clinical study of the compound HLX-0201 for FXS.

Bruce Bloom, chief collaboration officer at Healx, said: “FXS has so many implications for sufferers and their families, and with no existing treatments or cures, we need to move as quickly as possible to redress that… HLX-0201 was identified as a potential treatment by Healx’s novel omic-based drug matching methods, and we believe it has strong potential to address the huge unmet needs for FXS patients as part of a combination.

“I also want to recognise the tireless work that FRAXA has done and the vital role they have played in getting us where we are today. We began working with FRAXA a few years ago and we have relied on their knowledge of the disease to shape our research. Combining their knowledge with our AI platform, Healnet, has been a great example of how companies can work with patient groups to achieve better patient outcomes.”

Article by
Emily Kimber

22nd July 2022

From: Research, Healthcare

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