Home » what is the genetic disease of “girls with beautiful eyes” – breaking latest news

what is the genetic disease of “girls with beautiful eyes” – breaking latest news

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what is the genetic disease of “girls with beautiful eyes” – breaking latest news

Rare Neurodevelopmental Disorder Rett Syndrome Sees Promising New Therapies and Discoveries

Rett syndrome (RTT), a rare neurodevelopmental disorder that almost exclusively affects females, is also known as “pretty-eyed girls syndrome” because those affected can only communicate with their gaze. With a prevalence estimated at 1 in 9,000 in 12-year-old girls and affecting approximately 1 in 30,000 in the general population, it is the second cause of mental retardation in girls.

The syndrome is progressive and disabling, with symptoms that include the progressive loss of motor skills, manual skills, and interest in the environment, as well as the appearance of stereotyped hand movements. Neurons do not die, as previously thought, but suffer from communication problems at the synapse level.

After the identification of the MECP2 gene as the cause of the classic form, which involves the majority of girls with Rett Syndrome, two other genes responsible for Rett Syndrome – CDKL5 and FOXG1 – have been discovered.

In terms of new therapies, the first patient in Canada was treated with a new gene therapy in 2023, and there are two ongoing clinical trials. Additionally, the US Food and Drug Administration approved the first drug for Rett syndrome, trofinetide, in March 2023. Promising but early studies are also being conducted relating to genome editing with the CRISPR technique.

In Italy, current therapies include pharmacological approaches that improve sleep and breathing disorders, epileptic seizures, stereotyped hand movements, and the general state of health. Families of girls with Rett Syndrome can rely on associations such as AIRETT Research Team, which is promoted by the Italian Rett Association and includes various research institutions. The associations also help parents to improve the girls’ health and communication options.

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In terms of new technologies, Airett launched an innovative technological platform called Amelie in 2021, which includes eye tracking and a smartphone app designed to facilitate communication, interaction, and learning for young patients. Through the platform, the girls can use eye movement to interact with images sent to a PC.

With new therapies, discoveries, and technological advancements, there is hope for improved treatment and quality of life for those affected by Rett Syndrome.

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