Discover International’s Post

‘Autosomal recessive deafness 9, caused by mutations of the OTOF gene, is characterised by congenital or prelingual, severe-to-complete, bilateral hearing loss. However, no pharmacological treatment is currently available for congenital deafness. In this Article, we report the safety and efficacy of gene therapy with an adeno-associated virus (AAV) serotype 1 carrying a human OTOF transgene (AAV1-hOTOF) as a treatment for children with autosomal recessive deafness 9.’ https://lnkd.in/d4EY99gV

🔹In a major medical breakthrough, a British baby born with a rare genetic condition that left her completely deaf has regained her ability to hear thanks to an innovative gene therapy. Performed at Addenbrooke's Hospital in Cambridge, the therapy involved administering a harmless virus that carries genetic material necessary for auditory functioning directly into the cochlea. This treatment marks a historic moment, with Opal being the youngest person and the first person in the world to benefit from this technique, opening up new possibilities for the treatment of deafness without relying on external devices. Find out more about this important medical breakthrough here 👉🏼 https://lnkd.in/dbnvMxcQ #techtitute #therapeutics #medicine #deafness

AAV1-hOTOF gene therapy for autosomal recessive deafness 9: a single-arm trial Autosomal recessive deafness 9, caused by mutations of the OTOF gene, is characterised by congenital or prelingual, severe-to-complete, bilateral hearing loss. However, no pharmacological treatment is currently available for congenital deafness. In this Article, we report the safety and efficacy of gene therapy with an adeno-associated virus (AAV) serotype 1 carrying a human OTOF transgene (AAV1-hOTOF) as a treatment for children with autosomal recessive deafness 9. Findings Between Oct 19, 2022, and June 9, 2023, we screened 425 participants for eligibility and enrolled six children for AAV1-hOTOF gene therapy (one received a dose of 9 × 1011 vector genomes [vg] and five received 1·5 × 1012 vg). All participants completed follow-up visits up to week 26. No dose-limiting toxicity or serious adverse events occurred. In total, 48 adverse events were observed; 46 (96%) were grade 1–2 and two (4%) were grade 3 (decreased neutrophil count in one participant). Five children had hearing recovery, shown by a 40–57 dB reduction in the average auditory brainstem response (ABR) thresholds at 0·5–4·0 kHz. https://lnkd.in/eX3d4fZw

Gene therapy restoration of hearing in deaf children - how it works & where it's headed...

Sound On! Major news for the ~1 in 1,000 children born with genetic hearing loss👂 Dr. Chen's team has unlocked hearing for those with congenital deafness by targeting the OTOF gene mutation. Their pioneering therapy corrects the mutated gene that causes deafness. By splitting the large gene and delivering it via vectors into cells, they enabled sound transmission to the brain. This isn't just science; it's hope, sculpted into reality, offering a future where hearing loss is no longer a lifelong sentence. Watch the video here 🔊 : https://lnkd.in/gKeMAiBU #hearingloss #genetherapy #medicalresearch #biotech #healthcare #deafness

Check out this new publication from Drs. Akhter, Bankiewicz, and Lonser: "Real-Time Magnetic Resonance Imaging During Convective Gene Therapy Perfusion of the Brain." Here they describe the critical importance of real-time imaging of convective perfusion of the brain for gene therapy in JAMA Surgery for the treatment of neurological disorders. https://go.osu.edu/CjKa

Norrie disease is a rare but devastating genetic disorder that causes blindness and hearing loss, and it primarily affects boys. They are born blind and from about 12 years of age develop progressive hearing loss. While cochlear implants can help, they are only partially effective against norrie disease, leaving may young people without viable solutions. However, gene therapy has the potential to correct this: a recent mouse-based study found that it can prevent the death of the vitally important hair cells in the cochlea, preventing the hearing loss associated with the disease. This could offer a valuable alternative for patients, allowing them to live fuller lives. #NorrieDisease #GeneTherapy

Traumatic Brain Injury is a leading cause of chronic brain impairment and the impact to the head results in immediate death to neuronal and glial cells, as well as injury to axons and the microvasculature. This initial primary brain injury is then substantially exacerbated by a poorly understood and progressive cascade of secondary events that may ultimately result in severe long-term consequences. Clinical evidence found that TBI resulted in a unique transcriptional response in several cell types in the injured human brain tissue, including the activation of cell-cycle-related genes in microglia as well as alterations in synaptic gene expression in excitatory neurons. These results not only provide insights into the initiating events of a neuroinflammatory response following severe TBI but also open therapeutic avenues! Learn more: https://lnkd.in/gvRbKVSW One love #braininjury #awareness #invisibledisability

On this week's podcast episodes, I'm joined by Dr. Khan, M.D., a cell and gene therapy specialist with a visionary approach that is changing the way we perceive healthcare worldwide. Khan has cemented his reputation as a regenerative medicine expert and a driven entrepreneur. In this episode, we discuss: ✔ What is stem cell therapy? ✔ Why the standard treatment for orthopedic injuries is wrong. ✔ How to heal faster with cutting-edge medicine. ✔ Can you use gene therapy to reverse aging? Tune in today through the link in the comments!

Explore adherent cell culture research through our article: “Adherent Cell Culture Research: From Start-Up to Scale-Up.” Discover how this research has propelled advances in modern medicine and supported the development of interventions in regenerative medicine, immuno-oncology, gene therapy, and tissue engineering. Learn about the challenges and solutions in scaling up cell production, from establishing efficient protocols to transitioning to larger vessels. Don’t miss out on this insightful read! https://lnkd.in/gHtW2GEe #CellCulture #Research #ScaleUp #RegenerativeMedicine #ImmunoOncology #GeneTherapy #TissueEngineering