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Lab grown ‘mini eyes’ unlock understanding of blindness in rare genetic condition

Lab grown ‘mini eyes’ unlock understanding of blindness in rare genetic condition

Researchers have created “mini eyes” in the lab that unlock understanding of blindness in a rare genetic condition, according to a new study.

The disorder, called aniridia, is caused by a mutation in a gene called PAX6. People with aniridia have impairments in the development of their iris, the colored part of the eye, and often experience poor vision.

In the new study, published in the journal Nature Genetics, researchers used stem cells to grow mini eyes that mimic the appearance and structure of human eyes. By studying the mini eyes, the researchers were able to identify how the PAX6 mutation leads to the abnormalities seen in aniridia.

The findings could pave the way for new treatments for aniridia and other disorders caused by PAX6 mutations.

Most mutations in the PAX6 gene result in the loss or reduction of PAx6 expression, which references PAX6 proteins present in cells. However, a PAX6 mutation associated with aniridia results in noel or reduced expression of the gene in some cells, while other cells have high levels of PAX6 expression.

The researchers found that the mini eyes carried the same type of mutation that causes aniridia. When they looked at the mini eyes, they found that when there is no PAx6 Protein in cells, the cells in the eye do not develop and biogenesis of the eye does not occur.

The team also found that when there was too much PAX6 protein in cells, it led to the overgrowth of cells in the eye and the formation of abnormal blood vessels.

The researchers also studied eye tissue from people with aniridia. They found that the same PAX6 mutations led to abnormalities in the developing eye. They found that when there was no PAx6 protein in cells, it led to the underdevelopment of cells in the eye.

The study provides insight into the cellular mechanisms that underlie aniridia and other disorders caused by PAX6 mutations. The findings could lead to the development of new treatments for these disorders.

Recently, researchers have created “mini eyes” in the lab that have unlocked new insight into a rare genetic condition that leads to blindness.

This condition, called aniridia, is caused by a mutation in a gene called PAX6. Mutations in this gene can cause a range of eye problems, from mild irregularities to total blindness.

Aniridia affects only about 1 in 50,000 people. However, despite its rarity, aniridia is the most studied genetic eye condition because PAX6 is essential for the development of the eye.

The new mini eyes were created by taking PAX6-mutant cells from an aniridia patient and growing them in a dish. This allowed the researchers to study the cells in a controlled environment and understand how the mutated PAX6 gene affects eye development.

The mini eyes revealed that the PAX6 mutation interferes with the development of the iris, the colored part of the eye. This finding explains why people with aniridia have a missing or partial iris.

The mini eyes also showed that the PAX6 mutation affects the development of other parts of the eye, including the retina. This finding could help explain why people with aniridia often have poor vision.

The new mini eyes have unlocked new insight into the development of aniridia and will help researchers develop better treatments for this condition.

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