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Gene Therapy Eyedrops Bring Hope to a Teen with Rare Genetic Condition

Imagine living with blurry vision, unable to see the world clearly. For 14-year-old Antonio, this was his reality due to a rare genetic condition called dystrophic epidermolysis bullosa. This condition not only caused painful blisters all over his body but also clouded his eyes with scarring, severely impairing his vision. But thanks to a groundbreaking treatment, Antonio’s sight has been restored, bringing hope not only to him but to millions of others with similar eye diseases.

Dr. Alfonoso Sabater, a skilled and compassionate doctor, treated Antonio using innovative gene therapy eyedrops. Before the treatment, Antonio’s eyes were covered in cloudy scars, making it difficult for him to see clearly. Dr. Sabater decided to adapt a gene therapy gel that had shown promising results in treating Antonio’s skin lesions, hoping it could be reformulated to help his eyes.

The treatment, known as Vyjuvek, utilizes an inactivated herpes simplex virus to deliver working copies of a gene that produces a protein called collagen 7. This protein plays a crucial role in maintaining the structure of both the skin and the corneas of the eyes. By delivering the functional gene through eyedrops, the therapy aimed to repair the damage caused by the genetic mutation responsible for Antonio’s condition.

After rigorous testing and obtaining necessary approvals, Antonio underwent surgery on his right eye, followed by regular treatment with the gene therapy eyedrops. Remarkably, his eye recovered from the surgery without scarring, and his vision showed significant improvement each month. Recently, doctors measured his vision at an impressive 20/25 in his right eye.

Buoyed by the success, Dr. Sabater began treating Antonio’s left eye, which had even more scar tissue. Encouragingly, this eye also displayed steady improvement, measuring close to 20/50 – a substantial leap from its previous state. For Antonio, this means a world of difference. He can now engage in activities he had longed for, such as playing video games with his friends, and he feels safer when moving around independently.

Antonio’s journey to restored sight was not an easy one. It took a dedicated team of researchers, doctors, and the support of drugmaker Krystal Biotech to develop and refine the gene therapy eyedrops. The process involved two years of research and testing in mice, followed by approvals from regulatory authorities and hospital review boards.

Dr. Sabater’s unwavering commitment to finding a solution for Antonio and other patients like him drove the team’s efforts. His persistence paid off, not just for Antonio but also for the countless others who may benefit from this groundbreaking treatment in the future.

Antonio’s mother, Yunielkys Carvajal, expressed her gratitude in an emotional interview. She praised Dr. Sabater as not just an exceptional doctor but also a kind and caring human being who provided hope when all seemed lost. When they first arrived from Cuba, Antonio’s condition worsened despite surgery to remove the scars. However, Dr. Sabater reassured the family that he would continue seeking a solution – a promise he ultimately fulfilled.

The successful use of gene therapy eyedrops in restoring Antonio’s sight represents a major breakthrough in the field of medical science. It opens the door to new possibilities for treating other eye diseases, potentially bringing hope and healing to millions of people worldwide.

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Rare Blue Rock Thrush Spotted in Oregon for the First Time

Kelly Taylor

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In an exciting development for birdwatchers, a “mega-rare” blue rock thrush was spotted for the first time in U.S. history at Oregon’s Hug Point State Recreation Site. The sighting occurred on April 21 and has since caused quite a stir in the birding community.

Michael Sanchez, a resident of Vancouver, was at Hug Point photographing the falls at sunrise when he noticed a small bird near the shoreline. Initially appearing as a little black bird in the dim light, it wasn’t until Sanchez reviewed his photos at home that he realized the bird was actually a vivid blue and chestnut-colored. He shared the images on social media, seeking help to identify it, which led to the revelation of its rarity.

Nolan Clements, a PhD student and member of the Oregon Birding Association, confirmed that the bird is a blue rock thrush, native to Europe and Asia and typically not found in North America. This sighting is considered only the second unofficial sighting in North America, with the first being a controversial observation in British Columbia in 1997, which many believed to be an escaped captive bird or one accidentally transported on a cargo ship.

The recent sighting at Hug Point has attracted many birders to the area hoping for a glimpse of the thrush, though no further sightings have been reported. While Sanchez’s discovery is still under review by bird records committees, experts are intrigued about how the thrush may have arrived in the U.S. There is speculation that, like other rare birds, it might have traveled aboard a ship, although the exact means remain uncertain.

Sanchez is collaborating with the Oregon Bird Records Committee to provide detailed information about his sighting. He expressed regret for not taking more photos but remains pleased with the ones he captured, hopeful that his experience will inspire increased interest in birdwatching.

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Opening the Universe to Touch: Portsmouth Project Brings Astronomy to Visually Impaired Kids

Shannon Jackson

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Imagine exploring the cosmos without sight. A project at the University of Portsmouth is making that possible, shattering barriers and igniting a passion for astronomy in visually impaired children. Led by Dr. Nicolas Bonne, a blind astronomer himself, the Tactile Universe team is a finalist for the prestigious Royal National Institute of Blind People’s (RNIB) See Differently Award in the “Design for Everyone” category.

Dr. Bonne’s team uses a revolutionary approach: 3D printed models of galaxies. These models allow students to feel the intricate shapes and structures of these celestial wonders, bringing the universe to life through touch. This innovative method bypasses the limitations of traditional, visually-oriented astronomy education.

Dr. Bonne, driven by his own experience with retinopathy of prematurity, is passionate about inspiring young people with disabilities. He wants them to know that science is an achievable dream, regardless of their limitations.

The project has already garnered recognition, having been featured on the BBC’s Sky at Night program. The Tactile Universe team visits schools, conducting workshops that utilize the 3D models to engage both visually impaired and sighted students, fostering a shared love of astronomy.

Their dedication to inclusivity has earned them a well-deserved spot in the RNIB awards. The winners will be announced at a ceremony in London on May 21st. With their innovative approach, the Tactile Universe project is opening a universe of wonder to a whole new generation of stargazers.

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Secret Rehab Center Opens for Injured Badgers in Derbyshire

Kevin Wells

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A group of dedicated volunteers has set up a new rehabilitation center in a hidden spot in Derbyshire to help injured badgers heal in a safe place. This center, designed just for badgers, has special cameras that let the volunteers watch the animals without bothering them too much.

The Mid Derbyshire Badger Group, which has been helping badgers for over 30 years, created this facility. They’re also planning to raise money to build another unit so they can care for more than one badger at a time.

A spokesperson for the group shared with the BBC that they are now ready to take in injured badgers. When a badger gets hurt, usually from car accidents, the group steps in. Although sometimes they have to make the tough choice to euthanize a badger if it’s too injured, they try to save as many as they can. If a vet thinks a badger can get better, it’s taken to the rehab center for a few days to a few weeks.

At the center, volunteers keep the badger’s living area clean and monitor its recovery through cameras. Badgers, surprisingly clean by nature, quickly learn to use a soil tray as their bathroom. When the badgers show signs of wanting to escape, it usually means they are ready to go back to the wild.

Besides rescuing and treating badgers, the volunteers also help with badger-related problems in the community, give advice on building projects affecting badger homes, check on flooded homes, and deal with reports of dead badgers. They also advocate for badger welfare and against harmful policies like the badger cull, which is meant to stop tuberculosis in cattle but harms badger populations.

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Girl Scouts: Microchip Scanning Project

Shannon Jackson

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Forget the usual badges! A Williamson County Girl Scout troop is earning gold stars for their innovative project reuniting lost dogs with their owners.

These clever young entrepreneurs used their Girl Scout cookie sales proceeds to purchase and install microchip scanners. Now, anyone who finds a lost dog can easily scan for a microchip, significantly increasing the chances of a happy reunion.

“It feels amazing knowing we helped lost animals find their way home,” said Ainslee Wright, a member of the troop.

This project wasn’t just about helping furry friends; it fostered teamwork and community spirit. “We love spending time together while making a positive impact,” added Maddie Marshall.

The scanners are conveniently located at the John P. Holt Brentwood Library and the Williamson County animal shelter. So, next time you find a lost dog, you can quickly check for a microchip and reunite a pet with its worried family.

These Girl Scouts are proving that delicious cookies can lead to heartwarming results!

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Teenager Organizes Stuffed Animal Drive to Comfort Abused Children

Kevin Wells

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A Williamson County teen is making a difference this Child Abuse Prevention Month by collecting stuffed animals for children in need.

17-year-old Kenny Royer launched a Stuffed Toy Drive to benefit Davis House Child Advocacy Center, a Franklin-based non-profit that supports families experiencing abuse.

Kenny’s drive has been a heartwarming success. Since starting in March, he’s collected over 200 stuffed animals and raised more than $3,000 for Davis House.

“Having a stuffed animal can show these children they’re cared for,” Kenny explained. “It gives them a sense of comfort during a difficult time.”

The drive continues throughout April. New stuffed animals can be donated directly to Davis House or dropped off at designated locations: WST Corporation in Franklin and Montgomery Bell Academy in Nashville.sharemore_vert

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