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
Advertisement
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.
Full View
Tags:    
Article Source : Stem Cell Reports

Disclaimer: This website is primarily for healthcare professionals. The content here does not replace medical advice and should not be used as medical, diagnostic, endorsement, treatment, or prescription advice. Medical science evolves rapidly, and we strive to keep our information current. If you find any discrepancies, please contact us at corrections@medicaldialogues.in. Read our Correction Policy here. Nothing here should be used as a substitute for medical advice, diagnosis, or treatment. We do not endorse any healthcare advice that contradicts a physician's guidance. Use of this site is subject to our Terms of Use, Privacy Policy, and Advertisement Policy. For more details, read our Full Disclaimer here.

NOTE: Join us in combating medical misinformation. If you encounter a questionable health, medical, or medical education claim, email us at factcheck@medicaldialogues.in for evaluation.

Our comments section is governed by our Comments Policy . By posting comments at Medical Dialogues you automatically agree with our Comments Policy , Terms And Conditions and Privacy Policy .

Similar News