Novel gene therapy for rare ciliopathy

Written By : Isra Zaman

Medically Reviewed By : Dr. Kamal Kant Kohli

Published On 2022-09-09 04:00 GMT | Update On 2022-09-09 04:00 GMT

Researchers from the National Eye Institute have developed a gene therapy that rescues cilia defects in retinal cells affected by a type of Leber congenital amaurosis (LCA), a disease that causes blindness in early childhood. Using patient-derived retina organoids (also known as retinas-in-a-dish), the researchers discovered that a type of LCA caused by mutations in the NPHP5 (also called IQCB1) gene leads to severe defects in the primary cilium, a structure found in nearly all cells of the body.

The findings not only shed light on the function of NPHP5 protein in the primary cilium but also led to a potential treatment for this blinding condition. NEI is part of the National Institutes of Health.

"It's so sad to see little kids going blind from early onset LCA. NPHP5 deficiency causes early blindness in its milder form, and in more severe forms, many patients also exhibit kidney disease along with retinal degeneration," said the study's lead investigator, Anand Swaroop, Ph.D., senior investigator

Ref:

Kruczek K, Qu Z, Welby E, et al. "In vitro modeling and rescue of ciliopathy associated with IQCB1/NPHP5 mutations using patient-derived cells." Stem Cell Reports. Sept 8, 2022.

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Article Source : Stem Cell Reports

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Isra Zaman

Isra Zaman is a Life Science graduate from Daulat Ram College, Delhi University, and a postgraduate in Biotechnology from Amity University. She has a flair for writing, and her roles at Medicaldialogues include that of a Sr. content writer and a medical correspondent. Her news pieces cover recent discoveries and updates from the health and medicine sector. She can be reached at editorial@medicaldialogues.in.

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Novel gene therapy for rare ciliopathy

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