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Researchers use patients' cells to test gene therapy for rare eye disease | National Institutes of Health (NIH)


Approach could provide new path for difficult-to-treat forms of Leber congenital amaurosis.
Fluorescently labeled organoid showing columnal cells in outer ring. Anand Swaroop, Ph.D., NEI
Scientists at the National Eye Institute (NEI) have developed a promising gene therapy strategy for a rare disease that causes severe vision loss in childhood. A form of Leber congenital amaurosis, the disease is caused by autosomal-dominant mutations in the
CRX gene, which are challenging to treat with gene therapy
. The scientists tested their approach using lab-made retinal tissues built from patient cells, called retinal organoids. This approach, which involved adding copies of the normal gene under its native control mechanism, partially restored ....

Colin Chu , Mugdha Samant , Zacahry Batz , Anand Swaroop , Linn Gieser , Benjamin Fadl , Suja Hiriyanna , Zhijian Wu , Laura Campello , Ananya Samanta , Kamil Kruczek , Office Of Translational Research , Us Department Of Health , Human Services , National Institute Of Allergy , National Institutes Of Health , Drug Administration , Discovery Into Health , National Eye Institute , Retinopathies Office Of Technology , Clinical Center , Stem Cell , National Institutes , Repair Laboratory , Brian Brooks , National Institute ,