- Home
- Medical news & Guidelines
- Anesthesiology
- Cardiology and CTVS
- Critical Care
- Dentistry
- Dermatology
- Diabetes and Endocrinology
- ENT
- Gastroenterology
- Medicine
- Nephrology
- Neurology
- Obstretics-Gynaecology
- Oncology
- Ophthalmology
- Orthopaedics
- Pediatrics-Neonatology
- Psychiatry
- Pulmonology
- Radiology
- Surgery
- Urology
- Laboratory Medicine
- Diet
- Nursing
- Paramedical
- Physiotherapy
- Health news
- Fact Check
- Bone Health Fact Check
- Brain Health Fact Check
- Cancer Related Fact Check
- Child Care Fact Check
- Dental and oral health fact check
- Diabetes and metabolic health fact check
- Diet and Nutrition Fact Check
- Eye and ENT Care Fact Check
- Fitness fact check
- Gut health fact check
- Heart health fact check
- Kidney health fact check
- Medical education fact check
- Men's health fact check
- Respiratory fact check
- Skin and hair care fact check
- Vaccine and Immunization fact check
- Women's health fact check
- AYUSH
- State News
- Andaman and Nicobar Islands
- Andhra Pradesh
- Arunachal Pradesh
- Assam
- Bihar
- Chandigarh
- Chattisgarh
- Dadra and Nagar Haveli
- Daman and Diu
- Delhi
- Goa
- Gujarat
- Haryana
- Himachal Pradesh
- Jammu & Kashmir
- Jharkhand
- Karnataka
- Kerala
- Ladakh
- Lakshadweep
- Madhya Pradesh
- Maharashtra
- Manipur
- Meghalaya
- Mizoram
- Nagaland
- Odisha
- Puducherry
- Punjab
- Rajasthan
- Sikkim
- Tamil Nadu
- Telangana
- Tripura
- Uttar Pradesh
- Uttrakhand
- West Bengal
- Medical Education
- Industry
Novel gene therapy for rare ciliopathy - Video
|
Overview
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.
Speakers
Isra Zaman
B.Sc Life Sciences, M.Sc Biotechnology, B.Ed
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.
Dr Kamal Kant Kohli-MBBS, DTCD- a chest specialist with more than 30 years of practice and a flair for writing clinical articles, Dr Kamal Kant Kohli joined Medical Dialogues as a Chief Editor of Medical News. Besides writing articles, as an editor, he proofreads and verifies all the medical content published on Medical Dialogues including those coming from journals, studies,medical conferences,guidelines etc. Email: drkohli@medicaldialogues.in. Contact no. 011-43720751