Researchers use patients’ cells to test gene therapy for rare eye disease – National Institutes of Health
By daniellenierenberg
News Release
Thursday, January 28, 2021
Approach could provide new path for difficult-to-treat forms of Leber congenital amaurosis.
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 CRX function. The study report appears today in Stem Cell Reports. NEI is part of the National Institutes of Health.
Our treatment approach, which adds more copies of the normal gene, could potentially treat autosomal-dominant LCA caused by a variety of mutations, said Anand Swaroop, Ph.D., chief of the NEI Neurobiology, Neurodegeneration and Repair Laboratory and senior author of the report.
The U.S. Food and Drug Administration approved Luxturna in 2017 for the treatment of LCA patients with mutations in a gene called RPE65. Although hailed as a major advance in gene therapy, Luxturna is ineffective against other forms of LCA, including those caused by autosomal-dominant mutations in CRX.
The CRX gene encodes a protein (also called CRX) that binds to DNA and instructs the retinas photoreceptors to make light-sensitive pigments called opsins. Without functional CRX protein, photoreceptors lose their ability to detect light and eventually die.
Disorders like autosomal-dominant LCA are tricky to treat with gene therapy, because adding more of the normal gene does not always restore function. People with autosomal-dominant mutations still have one normal copy of the gene, but the mutant version of the protein interferes with the normal protein. Sometimes, instead of restoring normal function, simply adding more of the normal protein can enhance the disease in unpredictable ways.
To explore how gene augmentation adding copies of the normal gene would affect autosomal-dominant LCA, Swaroops team, developed retinal organoids from two volunteers with LCA and from their unaffected family members. Led by Kamil Kruczek, Ph.D., a postdoctoral fellow in Swaroops lab, they built the complex retina-like tissues in several stages, starting with skin cells, inducing the production of mature photoreceptors and other retinal cells with the genetic profile of each volunteer. As expected, patient organoids made far less light-sensing opsin than the organoids made from unaffected family members.
To carefully control how much CRX gene would be expressed by the recipient photoreceptors, the team re-engineered the CRX promoter so it could be delivered with the CRX gene as part of the gene therapy. A promoter is a neighboring sequence of DNA that controls when and how genes are expressed. The researchers packed the gene and their engineered promoter inside a virus that shuttled them into the organoid photoreceptors.
The teams gene augmentation strategy restored some CRX protein function for organoids from both patients, driving expression of opsins in both types of photoreceptors: rods and cones.
The fact that this strategy worked for both CRX mutations was pretty exciting, said Swaroop. Gene augmentation may be a viable therapy for LCA caused by other autosomal-dominant mutations.
This proof-of-concept gene therapy study is the first step toward a potential treatment for a rare form of LCA, said Brian Brooks, M.D., NEI clinical director and co-author on the study. Its a great example of bench-to-bedside science, when researchers in basic and clinical science collaborate.
The current study was funded through the intramural programs of the NEI and the National Institute of Allergy and Infectious Diseases, both part of NIH. Patient samples were collected at the NIH Clinical Center, clinical trial number NCT01432847.
NEI has protected intellectual property around this technology which is available for licensing and or co-development. Details can be found on the NIH OTT Licensing website: Gene Therapy for Treatment of CRX-Autosomal Dominant Retinopathies | Office of Technology Transfer, NIH or by contacting NEI Office of Translational Research mala.dutta@nih.gov
Additional authors include: Zepeng Qu, James Gentry, Benjamin Fadl, Linn Gieser, Suja Hiriyanna, Zacahry Batz, Mugdha Samant, Ananya Samanta, Colin Chu, Laura Campello, and Zhijian Wu.
NEI leads the federal governments research on the visual system and eye diseases. NEI supports basic and clinical science programs to develop sight-saving treatments and address special needs of people with vision loss. For more information, visit https://www.nei.nih.gov.
About the National Institutes of Health (NIH):NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit http://www.nih.gov.
NIHTurning Discovery Into Health
Kruczek K. Qu Z, Gentry J, Fadl BR, Gieser L, Hiriyanna S, Batz Z, Samant M, Samanta A, Chu CJ, Campello L, Brooks BP, Wu Z, and Swaroop A. Gene therapy of dominantCRX-Leber congenital amaurosis using patient stem cell-derived retinal organoids.Stem Cell Reports, January 28, 2020.https://doi.org/10.1016/j.stemcr.2020.12.018
###
The rest is here:
Researchers use patients' cells to test gene therapy for rare eye disease - National Institutes of Health
- Frog skin cells turned themselves into living machines - Science News Magazine - April 4th, 2021
- The Next Generation of Living Machines: Xenobots 2.0 - Freethink - April 4th, 2021
- Fat grafting shows promise for cancer patients with radiation-induced skin injury - Newswise - April 4th, 2021
- Augustinus Bader and the making of a $70m phenomenon - Financial Times - April 4th, 2021
- Augustinus Bader Launches Vegan Formulation of The Rich Cream | Review - Allure - March 8th, 2021
- Seven Innovative Skincare Brands That Deliver Clinical Results - Forbes - March 8th, 2021
- Transform Your Skin Into That Of A Greek Goddess (on A Budget) - GreekCityTimes.com - March 8th, 2021
- How New Yorkers Are Battling the Zoom Effect: 6 Cosmetic Treatments That Are on the Rise - PureWow - March 8th, 2021
- Nvidia, Harvard researchers use AI to find active areas in cell DNA - ZDNet - March 8th, 2021
- Evolution: Lab-Grown 'Mini Brains' Suggest One Mutation Might Have Rewired the Human Mind - Singularity Hub - March 8th, 2021
- Tissue regeneration: Reserve or reverse? - Science Magazine - February 19th, 2021
- Heres why natural ingredients and science-backed formulations are the perfect combination - Vogue India - February 19th, 2021
- The ultimate path to skin rejuvenation - Philstar.com - February 19th, 2021
- Trupure Organics Is First 50-Plus Brand Devoted to That Market's Distinct Needs - PRNewswire - February 19th, 2021
- Mouth Sores from Chemo: Symptoms, Causes, and Treatments - Healthline - February 19th, 2021
- Research Associate in Stem Cells and Regenerative Medicine job with KINGS COLLEGE LONDON | 246711 - Times Higher Education (THE) - February 17th, 2021
- Gergis Explains the Differences Between Acute and Chronic GVHD - Targeted Oncology - February 17th, 2021
- Smart Stem Cells Made From Fat Have the Power to Heal - Freethink - February 14th, 2021
- Manageable Safety Profile Observed in Phase 1 Studies Examining UCART19 for Pediatric and Adult Patients with B-Cell ALL - Cancer Network - February 11th, 2021
- Platelet Rich Plasma Therapy: The answer to a rejuvenated body, skin, hair and sex life! - Longevity LIVE - Longevity LIVE - February 11th, 2021
- Paragon Biosciences Expands Cell And Gene Therapy Platform - Contract Pharma - February 10th, 2021
- [Full text] Successful Use of Nivolumab in a Patient with Head and Neck Cancer Aft | OTT - Dove Medical Press - February 10th, 2021
- Two Studies Shed Light on How and Where the Body Can Add New Fat Cells - Technology Networks - February 4th, 2021
- Heidi Klum loves to pamper her skin with goodies from Drunk Elephant and Glossier - woman&home - February 4th, 2021
- I Tried MAC's Virtual Try-On Tool & Here's What Happened - GLAMOUR UK - February 4th, 2021
- When to take fish oil: Timing, dosages and side effects - Medical News Today - February 4th, 2021
- World Cancer Day 2021: What are Blood Cancers, Types, Symptoms, Treatment and data in India? - Jagran Josh - February 4th, 2021
- Heidi Klum loves to pamper her skin with goodies from Drunk Elephant and Glossier - Woman & Home - February 3rd, 2021
- Paragon Biosciences Launches CiRC Biosciences to Expand Cell and Gene Therapy Platform - PRNewswire - February 3rd, 2021
- The 32 Best Beauty Products That Launched in January - Coveteur - January 31st, 2021
- Unboxing: the Best Beauty Items We Tried in January - Prestige Online - January 31st, 2021
- ToolGen ties up with 3D bioprinting company to apply induced pluripotent stem cells to gene correction - Aju Business Daily - January 29th, 2021
- Opdivo Side Effects: What They Are and How to Manage Them - Healthline - January 29th, 2021
- Protein identified that may help treat Parkinsons disease - Medical News Today - January 29th, 2021
- Why Hair Goes Gray, and How to Cover It If You Want To - NewBeauty Magazine - January 29th, 2021
- Valentina Greco Receives the 2021 ISSCR Momentum Award < Yale School of Medicine - Yale School of Medicine - January 27th, 2021
- Essent Biologics Launches With A Mission To Provide Human-Derived Biomaterials And 3D Biology Data For Cell Therapy And Tissue Engineering - The Grand... - January 27th, 2021
- How to Treat a Wounded Manatee - The New York Times - January 27th, 2021
- We tried The Body Shops new Drops of Youth skincare range heres what we thought - The Independent - January 27th, 2021
- Stem Cell Therapy Market to Witness Increase in Revenues by 2025 NeighborWebSJ - NeighborWebSJ - January 25th, 2021
- Here's Why The Body Shop Is A Cult Brand to Know Plus The Best-Sellers To Buy - GLAMOUR UK - January 23rd, 2021
- 4 Doctors Reveal the Pros and Cons to Microneedling Treatments - NewBeauty Magazine - January 23rd, 2021
- Ohio State establishing national standards for ALS genetic testing, research and patient care | Ohio State Medical Center - Wexner Medical Center -... - January 23rd, 2021
- Global Regenerative Medicine Market Insights, Overview, Analysis and Forecast 2022 NeighborWebSJ - NeighborWebSJ - January 23rd, 2021
- I Tried The Slugging Skincare Trend & Here's What Happened - GLAMOUR UK - January 22nd, 2021
- Industrial Nitrogen Market to Reach Value of USD 29.36 Billion by 2027 | Global Analysis, Statistics, Revenue, Demand and Trend Analysis Research... - January 22nd, 2021
- Research finds new proof about the systems controlling skin repair and regeneration - Microbioz India - January 19th, 2021
- Comprehensive analysis of cell therapy on chronic skin wound healing: a meta-analysis - DocWire News - January 19th, 2021
- COVID self-care tips for skin, hair and overall wellness - Los Angeles Times - January 19th, 2021
- Tess Daly opens up about being "grateful" for her body and not dwelling on the negatives - Allaboutyou - January 19th, 2021
- Eye stem cell transplant to treat blindness bolsters retinal function in monkeys - FierceBiotech - January 14th, 2021
- Seattle researchers find clues for treatments that could eliminate HIV in infected patients - GeekWire - January 14th, 2021
- Reversing The Aging Clock With Epigenetic Reprogramming - Bio-IT World - January 14th, 2021
- Bath And Body Routines That Make You Look And Feel Good From Day To Night - Forbes - January 12th, 2021
- Worldwide Organ and Tissue Transplantation and Alternatives Industry to 2024 - Featuring Mylan, Novartis & Pfizer Among Others -... - January 12th, 2021
- BENEV Announces Investigative Report on Combination Treatment with Human Adipose Tissue Stem Cell- derived Exosomes and Fractional CO2 Laser for Acne... - January 9th, 2021
- Factor Bioscience spins out a new cell therapy player with eyes on the clinic within 2 years - Endpoints News - January 9th, 2021
- Spinogenix Wins Grant to Advance Testing of Potential Oral Therapy - ALS News Today - January 9th, 2021
- Ulta Beautys Love Your Skin Event Is Here | January 2021 - Allure - January 9th, 2021
- Exosome Therapeutic Market Overview By Size, Share, Trends, Growth Factors and Leading Players With Detailed Analysis of Industry Structure - KSU |... - January 9th, 2021
- Global Organ and Tissue Transplantation and Alternatives Market to 2024 - Impact Analysis of COVID-19 - Yahoo Finance - January 9th, 2021
- A celebrity dermat's tips for new moms on how to deal with postpartum hair and skin issues - VOGUE India - January 9th, 2021
- FOREO UFO 2 Review: Is It Worth The Hype? - GLAMOUR UK - January 9th, 2021
- The Amniotic Fluid Stem Cell Therapy Market to be synonymous to vertical growth between 2018 and 2026 - LionLowdown - January 5th, 2021
- 2021: What are the best self-care products to buy in the new year? - The Jerusalem Post - January 3rd, 2021
- The Complete Guide to Laser Treatments for Hair and Skin | The Science of Beauty Podcast | Allure - Allure - December 30th, 2020
- The big scientific breakthroughs of 2020 - The Week - December 30th, 2020
- Nociceptive neurons shown to boost hematopoiesis | 2020-12-28 - BioWorld Online - December 28th, 2020
- Getting to the root of why hair goes gray - messenger-inquirer - December 26th, 2020
- What causes chafing rash? Remedies, treatment, and prevention - Medical News Today - December 24th, 2020
- Rash on black skin: Pictures, symptoms, and treatments - Medical News Today - December 24th, 2020
- Everything You've Ever Wanted to Know About Body Hair - Allure - December 24th, 2020
- 2020 in Neuroscience, Longevity, and AIand What's to Come - Singularity Hub - December 22nd, 2020
- Hair loss, body odor, irregular periods: Covid-19 isolation does weird things to our bodies - Vox.com - December 22nd, 2020
- Scientists have restored youth to aging eyes in mice - Massive Science - December 21st, 2020
- The Adrenomyeloneuropathy Treatment Market to grow on an emphatic note from 2019 to 2029 - PharmiWeb.com - December 21st, 2020
- At 14.6% CAGR, Cell Banking Outsourcing Market 2020 Industry Analysis of Current Trends and Opportun - PharmiWeb.com - December 21st, 2020
- The Definitive Guide to All Things Vegan By Drunk Elephant - LIVEKINDLY - December 21st, 2020
- The facts about the danger of melanoma - The Hudson Reporter - December 17th, 2020
- A Tried And Tested Guide On How To Win The War Against Maskne - Forbes - December 13th, 2020
